113 results on '"Ostrow L"'
Search Results
2. P.174 TRIM32 related muscular dystrophy mimicking inflammatory myopathy: Clinical and histopathological features in two siblings
- Author
-
Orbach, R., primary, Ostrow, L., additional, and Roda, R., additional
- Published
- 2022
- Full Text
- View/download PDF
3. Cell environment shapes TDP-43 function with implications in neuronal and muscle disease.
- Author
-
Šušnjar, Urša, Škrabar, Neva, Brown, Anna-Leigh, Abbassi, Yasmine, Phatnani, Hemali, NYGC ALS Consortium, Phatnani, H., Fratta, P., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Shneider, N. A., Fraenkel, E., Ostrow, L. W., Baas, F., and Berry, J. D.
- Subjects
MUSCLE diseases ,CELL morphology ,INCLUSION body myositis ,AMYOTROPHIC lateral sclerosis ,CENTRAL nervous system ,MYOSITIS - Abstract
TDP-43 (TAR DNA-binding protein 43) aggregation and redistribution are recognised as a hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. As TDP-43 inclusions have recently been described in the muscle of inclusion body myositis patients, this highlights the need to understand the role of TDP-43 beyond the central nervous system. Using RNA-seq, we directly compare TDP-43-mediated RNA processing in muscle (C2C12) and neuronal (NSC34) mouse cells. TDP-43 displays a cell-type-characteristic behaviour targeting unique transcripts in each cell-type, which is due to characteristic expression of RNA-binding proteins, that influence TDP-43's performance and define cell-type specific splicing. Among splicing events commonly dysregulated in both cell lines, we identify some that are TDP-43-dependent also in human cells. Inclusion levels of these alternative exons are altered in tissues of patients suffering from FTLD and IBM. We therefore propose that TDP-43 dysfunction contributes to disease development either in a common or a tissue-specific manner. The aetiology of the TDP-43 aggregation manifest itself in the muscle and neuronal cells. Here authors show cell-type characteristic functions of TDP43, reflected in aberrant splicing, likely contributing to disease development. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
4. Immunohistochemistry of affected tissue may guide cGVHD treatment decisions
- Author
-
Williams, K M, Ostrow, L W, Loeb, D M, Chung, T, Cohn, R D, Corse, A M, Mammen, A L, and Chen, A R
- Published
- 2012
- Full Text
- View/download PDF
5. P.17Xenograft model of sporadic inclusion body myositis
- Author
-
Britson, K., primary, Russell, K., additional, Tsao, W., additional, Montagne, J., additional, Larman, B., additional, Wagner, K., additional, Ostrow, L., additional, and Lloyd, T., additional
- Published
- 2019
- Full Text
- View/download PDF
6. Loss of RAD-23 Protects Against Models of Motor Neuron Disease by Enhancing Mutant Protein Clearance
- Author
-
Jablonski, A. M., primary, Lamitina, T., additional, Liachko, N. F., additional, Sabatella, M., additional, Lu, J., additional, Zhang, L., additional, Ostrow, L. W., additional, Gupta, P., additional, Wu, C.-Y., additional, Doshi, S., additional, Mojsilovic-Petrovic, J., additional, Lans, H., additional, Wang, J., additional, Kraemer, B., additional, and Kalb, R. G., additional
- Published
- 2015
- Full Text
- View/download PDF
7. PML-IRIS in patients with HIV infection: clinical manifestations and treatment with steroids.
- Author
-
Tan K, Roda R, Ostrow L, McArthur J, Nath A, Tan, K, Roda, R, Ostrow, L, McArthur, J, and Nath, A
- Published
- 2009
- Full Text
- View/download PDF
8. Immunohistochemistry of affected tissue may guide cGVHD treatment decisions
- Author
-
Williams, K M, primary, Ostrow, L W, additional, Loeb, D M, additional, Chung, T, additional, Cohn, R D, additional, Corse, A M, additional, Mammen, A L, additional, and Chen, A R, additional
- Published
- 2011
- Full Text
- View/download PDF
9. The varicella zoster virus vasculopathies: Clinical, CSF, imaging, and virologic features
- Author
-
Nagel, M. A., primary, Cohrs, R. J., additional, Mahalingam, R., additional, Wellish, M. C., additional, Forghani, B., additional, Schiller, A., additional, Safdieh, J. E., additional, Kamenkovich, E., additional, Ostrow, L. W., additional, Levy, M., additional, Greenberg, B., additional, Russman, A. N., additional, Katzan, I., additional, Gardner, C. J., additional, Hausler, M., additional, Nau, R., additional, Saraya, T., additional, Wada, H., additional, Goto, H., additional, de Martino, M., additional, Ueno, M., additional, Brown, W. D., additional, Terborg, C., additional, and Gilden, D. H., additional
- Published
- 2008
- Full Text
- View/download PDF
10. Subjectively perceived quality of life after coronary artery bypass surgery
- Author
-
Ross, AC, primary and Ostrow, L, additional
- Published
- 2001
- Full Text
- View/download PDF
11. Hickam's dictum and the rare convergence of antisynthetase syndrome and hemoglobin SC disease.
- Author
-
WILKINSON, S. T., GRUNWALD, M. R., PAIK, J. J., OSTROW, L. W., and GELBER, A. C.
- Subjects
ANTISYNTHETASE syndrome ,HEMOGLOBINOPATHY ,CREATINE kinase ,FAMILY history (Medicine) ,CHEST (Anatomy) ,COMPUTED tomography - Published
- 2015
- Full Text
- View/download PDF
12. Cortisol secretion in relation to age in major depression.
- Author
-
Asnis, Gregory M., Sachar, Edward J., Halbreich, Uriel, Nathan, Swami R., Novacenko, Hana, Ostrow, Lynn C., Asnis, G M, Sachar, E J, Halbreich, U, Nathan, R S, Novacenko, H, and Ostrow, L C
- Published
- 1981
- Full Text
- View/download PDF
13. Revisiting the rationale and evidence for peer support
- Author
-
Davidson, L., Chyrell Bellamy, Chinman, M., Farkas, M., Ostrow, L., Cook, J. A., Jonikas, J. A., Rosenthal, H., Bergeson, S., Daniels, A. S., and Salzer, M.
14. The dexamethasone suppression test in depressive illness: Clinical correlates
- Author
-
ASNIS, G, primary, HALBREICH, U, additional, NATHAN, R, additional, OSTROW, L, additional, NOVACENKO, H, additional, ENDICOTT, J, additional, and SACHAR, E, additional
- Published
- 1982
- Full Text
- View/download PDF
15. Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
- Author
-
Johnson, JO, Chia, R, Miller, DE, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, AE, Topp, SD, Gibbs, JR, Cookson, MR, Sabir, MS, Dalgard, CL, Troakes, C, Jones, AR, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, IP, Dobson-Stone, C, Kwok, JB, Bonkowski, ES, Palvadeau, R, Tienari, PJ, Morrison, KE, Shaw, PJ, Al-Chalabi, A, Brown, RH, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, IJ, Perlman, SJ, Glass, I, Scott, AI, Shaw, CE, Basak, AN, Landers, JE, Chiò, A, Crawford, TO, Smith, BN, Traynor, BJ, Fallini, C, Gkazi, AS, Scotter, EL, Kenna, KP, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, ten Asbroek, ALMA, McKenna-Yasek, D, McLaughlin, RL, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D’Alfonso, S, Mazzini, L, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, KL, Nicholson, GA, Leblond-Manry, C, Rouleau, GA, Hardiman, O, Veldink, JH, van den Berg, LH, Pall, H, Turner, MR, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, JD, Ratti, A, Adeleye, A, Soltis, AR, Alba, C, Viollet, C, Bacikova, D, Hupalo, DN, Sukumar, G, Pollard, HB, Wilkerson, MD, Martinez, EM, Ahmed, S, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, England, BK, Faghri, F, Feldman, E, Floeter, MK, Fratta, P, Geiger, JT, Gerhard, G, Gibson, SB, Hardy, J, Harms, MB, Heiman-Patterson, TD, Hernandez, DG, Jansson, L, Kirby, J, Kowall, NW, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering-Brown, S, Pioro, EP, Pletnikova, O, Pliner, HA, Pulst, SM, Ravits, JM, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Scholz, SW, Sendtner, M, Sidle, KC, Simmons, Z, Singleton, AB, Smith, N, Stone, DJ, Troncoso, JC, Valori, M, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Angelocola, SM, Ausiello, FP, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, TA, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, FL, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D’Errico, E, DeMarco, G, Dubbioso, R, Ferrarese, C, Ferraro, PM, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, FO, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, MG, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, MR, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E, Johnson J.O., Chia R., Miller D.E., Li R., Kumaran R., Abramzon Y., Alahmady N., Renton A.E., Topp S.D., Gibbs J.R., Cookson M.R., Sabir M.S., Dalgard C.L., Troakes C., Jones A.R., Shatunov A., Iacoangeli A., Al Khleifat A., Ticozzi N., Silani V., Gellera C., Blair I.P., Dobson-Stone C., Kwok J.B., Bonkowski E.S., Palvadeau R., Tienari P.J., Morrison K.E., Shaw P.J., Al-Chalabi A., Brown R.H., Calvo A., Mora G., Al-Saif H., Gotkine M., Leigh F., Chang I.J., Perlman S.J., Glass I., Scott A.I., Shaw C.E., Basak A.N., Landers J.E., Chio A., Crawford T.O., Smith B.N., Traynor B.J., Fallini C., Gkazi A.S., Scotter E.L., Kenna K.P., Keagle P., Tiloca C., Vance C., Colombrita C., King A., Pensato V., Castellotti B., Baas F., Ten Asbroek A.L.M.A., McKenna-Yasek D., McLaughlin R.L., Polak M., Asress S., Esteban-Perez J., Stevic Z., D'Alfonso S., Mazzini L., Comi G.P., Del Bo R., Ceroni M., Gagliardi S., Querin G., Bertolin C., Van Rheenen W., Rademakers R., Van Blitterswijk M., Lauria G., Duga S., Corti S., Cereda C., Corrado L., Soraru G., Williams K.L., Nicholson G.A., Leblond-Manry C., Rouleau G.A., Hardiman O., Veldink J.H., Van Den Berg L.H., Pall H., Turner M.R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Glass J.D., Ratti A., Adeleye A., Soltis A.R., Alba C., Viollet C., Bacikova D., Hupalo D.N., Sukumar G., Pollard H.B., Wilkerson M.D., Martinez E.M., Ahmed S., Arepalli S., Baloh R.H., Bowser R., Brady C.B., Brice A., Broach J., Campbell R.H., Camu W., Cooper-Knock J., Ding J., Drepper C., Drory V.E., Dunckley T.L., Eicher J.D., England B.K., Faghri F., Feldman E., Floeter M.K., Fratta P., Geiger J.T., Gerhard G., Gibson S.B., Hardy J., Harms M.B., Heiman-Patterson T.D., Hernandez D.G., Jansson L., Kirby J., Kowall N.W., Laaksovirta H., Landeck N., Landi F., Le Ber I., Lumbroso S., Macgowan D.J.L., Maragakis N.J., Mouzat K., Murphy N.A., Myllykangas L., Nalls M.A., Orrell R.W., Ostrow L.W., Pamphlett R., Pickering-Brown S., Pioro E.P., Pletnikova O., Pliner H.A., Pulst S.M., Ravits J.M., Rivera A., Robberecht W., Rogaeva E., Rollinson S., Rothstein J.D., Scholz S.W., Sendtner M., Sidle K.C., Simmons Z., Singleton A.B., Smith N., Stone D.J., Troncoso J.C., Valori M., Van Damme P., Van Deerlin V.M., Van Den Bosch L., Zinman L., Angelocola S.M., Ausiello F.P., Barberis M., Bartolomei I., Battistini S., Bersano E., Bisogni G., Borghero G., Brunetti M., Cabona C., Canale F., Canosa A., Cantisani T.A., Capasso M., Caponnetto C., Cardinali P., Carrera P., Casale F., Colletti T., Conforti F.L., Conte A., Conti E., Corbo M., Cuccu S., Dalla Bella E., D'Errico E., Demarco G., Dubbioso R., Ferrarese C., Ferraro P.M., Filippi M., Fini N., Floris G., Fuda G., Gallone S., Gianferrari G., Giannini F., Grassano M., Greco L., Iazzolino B., Introna A., La Bella V., Lattante S., Liguori R., Logroscino G., Logullo F.O., Lunetta C., Mandich P., Mandrioli J., Manera U., Manganelli F., Marangi G., Marinou K., Marrosu M.G., Martinelli I., Messina S., Moglia C., Mosca L., Murru M.R., Origone P., Passaniti C., Petrelli C., Petrucci A., Pozzi S., Pugliatti M., Quattrini A., Ricci C., Riolo G., Riva N., Russo M., Sabatelli M., Salamone P., Salivetto M., Salvi F., Santarelli M., Sbaiz L., Sideri R., Simone I., Simonini C., Spataro R., Tanel R., Tedeschi G., Ticca A., Torriello A., Tranquilli S., Tremolizzo L., Trojsi F., Vasta R., Vacchiano V., Vita G., Volanti P., Zollino M., Zucchi E., Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chio, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Fallini, C., Gkazi, A. S., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., Mclaughlin, R. L., Polak, M., Asress, S., Esteban-Perez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Soraru, G., Williams, K. L., Nicholson, G. A., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Veldink, J. H., Van Den Berg, L. H., Pall, H., Turner, M. R., Talbot, K., Taroni, F., Garcia-Redondo, A., Wu, Z., Glass, J. D., Ratti, A., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibson, S. B., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., Demarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M., Zucchi, E., Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Palvadeau, Robin, Johnson, Janel O., Chia, Ruth, Miller, Danny E., Li, Rachel, Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada, Renton, Alan E., Topp, Simon D., Gibbs, J. Raphael, Cookson, Mark R., Sabir, Marya S., Dalgard, Clifton L., Troakes, Claire, Jones, Ashley R., Shatunov, Aleksey, Lacoangeli, Alfredo, Al Khleifat, Ahmad, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P., Dobson-Stone, Carol, Kwok, John B., Bonkowski, Emily S., Tienari, Pentti J., Morrison, Karen E., Shaw, Pamela J., Al-Chalabi, Ammar, Jr, Robert H. Brown, Calvo, Andrea, Mora, Gabriele, Al-Saif, Hind, Gotkine, Marc, Leigh, Fawn, Chang, Irene J., Perlman, Seth J., Glass, Ian, Scott, Anna, I., Landers, John E., Chio, Adriano, Crawford, Thomas O., Smith, Bradley N., Traynor, Bryan J., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Johnson, J, Chia, R, Miller, D, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A, Topp, S, Gibbs, J, Cookson, M, Sabir, M, Dalgard, C, Troakes, C, Jones, A, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I, Dobson-Stone, C, Kwok, J, Bonkowski, E, Palvadeau, R, Tienari, P, Morrison, K, Shaw, P, Al-Chalabi, A, Brown, R, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I, Perlman, S, Glass, I, Scott, A, Shaw, C, Basak, A, Landers, J, Chiò, A, Crawford, T, Smith, B, Traynor, B, Fallini, C, Gkazi, A, Scotter, E, Kenna, K, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A, McKenna-Yasek, D, Mclaughlin, R, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K, Nicholson, G, Leblond-Manry, C, Rouleau, G, Hardiman, O, Veldink, J, van den Berg, L, Pall, H, Turner, M, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J, Ratti, A, Adeleye, A, Soltis, A, Alba, C, Viollet, C, Bacikova, D, Hupalo, D, Sukumar, G, Pollard, H, Wilkerson, M, Martinez, E, Ahmed, S, Arepalli, S, Baloh, R, Bowser, R, Brady, C, Brice, A, Broach, J, Campbell, R, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V, Dunckley, T, Eicher, J, England, B, Faghri, F, Feldman, E, Floeter, M, Fratta, P, Geiger, J, Gerhard, G, Gibson, S, Hardy, J, Harms, M, Heiman-Patterson, T, Hernandez, D, Jansson, L, Kirby, J, Kowall, N, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D, Maragakis, N, Mouzat, K, Murphy, N, Myllykangas, L, Nalls, M, Orrell, R, Ostrow, L, Pamphlett, R, Pickering-Brown, S, Pioro, E, Pletnikova, O, Pliner, H, Pulst, S, Ravits, J, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J, Scholz, S, Sendtner, M, Sidle, K, Simmons, Z, Singleton, A, Smith, N, Stone, D, Troncoso, J, Valori, M, Van Damme, P, Van Deerlin, V, Van Den Bosch, L, Zinman, L, Angelocola, S, Ausiello, F, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, T, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, F, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, F, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, M, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E, HUS Neurocenter, Department of Neurosciences, Clinicum, Neurologian yksikkö, TRIMM - Translational Immunology Research Program, Pentti Tienari / Principal Investigator, Human Genetics, ARD - Amsterdam Reproduction and Development, ANS - Complex Trait Genetics, Johnson, Janel O, Miller, Danny E, Renton, Alan E, Topp, Simon D, Gibbs, J Raphael, Cookson, Mark R, Sabir, Marya S, Dalgard, Clifton L, Jones, Ashley R, Iacoangeli, Alfredo, Blair, Ian P, Kwok, John B, Bonkowski, Emily S, Tienari, Pentti J, Morrison, Karen E, Shaw, Pamela J, Brown, Robert H, Chang, Irene J, Perlman, Seth J, Scott, Anna I, Shaw, Christopher E, Basak, A Nazli, Landers, John E, Chiò, Adriano, Crawford, Thomas O, Smith, Bradley N, Traynor, Bryan J, Fallini, Claudia, Gkazi, Athina Soragia, Scotter, Emma L, Kenna, Kevin P, Keagle, Pamela, Tiloca, Cinzia, Vance, Caroline, Colombrita, Claudia, King, Andrew, Pensato, Viviana, Castellotti, Barbara, Baas, Frank, Ten Asbroek, Anneloor L M A, McKenna-Yasek, Diane, Mclaughlin, Russell L, Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesú, Stevic, Zorica, D'Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P, Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Rademakers, Rosa, van Blitterswijk, Marka, Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L, Nicholson, Garth A, Leblond-Manry, Claire, Rouleau, Guy A, Hardiman, Orla, Veldink, Jan H, van den Berg, Leonard H, Pall, Hardev, Turner, Martin R, Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D, Ratti, Antonia, Adeleye, Adelani, Soltis, Anthony R, Alba, Camille, Viollet, Coralie, Bacikova, Dagmar, Hupalo, Daniel N, Sukumar, Gauthaman, Pollard, Harvey B, Wilkerson, Matthew D, Martinez, Elisa McGrath, Ahmed, Sarah, Arepalli, Sampath, Baloh, Robert H, Bowser, Robert, Brady, Christopher B, Brice, Alexi, Broach, Jame, Campbell, Roy H, Camu, William, Cooper-Knock, John, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E, Dunckley, Travis L, Eicher, John D, England, Bryce K, Faghri, Faraz, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Geiger, Joshua T, Gerhard, Glenn, Gibson, Summer B, Hardy, John, Harms, Matthew B, Heiman-Patterson, Terry D, Hernandez, Dena G, Jansson, Lilja, Kirby, Janine, Kowall, Neil W, Laaksovirta, Hannu, Landeck, Natalie, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Macgowan, Daniel J L, Maragakis, Nicholas J, Mouzat, Kevin, Murphy, Natalie A, Myllykangas, Liisa, Nalls, Mike A, Orrell, Richard W, Ostrow, Lyle W, Pamphlett, Roger, Pickering-Brown, Stuart, Pioro, Erik P, Pletnikova, Olga, Pliner, Hannah A, Pulst, Stefan M, Ravits, John M, Rivera, Alberto, Robberecht, Wim, Rogaeva, Ekaterina, Rollinson, Sara, Rothstein, Jeffrey D, Scholz, Sonja W, Sendtner, Michael, Sidle, Katie C, Simmons, Zachary, Singleton, Andrew B, Smith, Nathan, Stone, David J, Troncoso, Juan C, Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M, Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M, Ausiello, Francesco P, Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A, Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L, Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Dalla Bella, Eleonora, D'Errico, Eustachio, Demarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M, Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O, Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Mosca, Lorena, Murru, Maria R, Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, and Zucchi, Elisabetta
- Subjects
Hereditary sensory neuropathy ,L-serine ,Mutations ,Deoxysphingolipids ,Accumulation ,Enzyme complex ,Juvenile amyotrophic lateral sclerosis ,Serine C-Palmitoyltransferase ,Whole Exome Sequencing ,0302 clinical medicine ,Medicine ,Family history ,Amyotrophic lateral sclerosis ,Child ,Index case ,Exome sequencing ,Original Investigation ,0303 health sciences ,Neurosciences and neurology ,3. Good health ,Child, Preschool ,Failure to thrive ,Female ,medicine.symptom ,Life Sciences & Biomedicine ,L-SERINE ,Comments ,Human ,Adult ,medicine.medical_specialty ,Adolescent ,Amyotrophic Lateral Sclerosis ,Genetic Predisposition to Disease ,Humans ,Mutation ,Young Adult ,Clinical Neurology ,NO ,03 medical and health sciences ,DEOXYSPHINGOLIPIDS ,Internal medicine ,Exome Sequencing ,Online First ,Juvenile ,Preschool ,030304 developmental biology ,ACCUMULATION ,Science & Technology ,SPTLC1 ,business.industry ,MUTATIONS ,Research ,3112 Neurosciences ,medicine.disease ,HEREDITARY SENSORY NEUROPATHY ,juvenile ,3111 Biomedicine ,Neurology (clinical) ,Neurosciences & Neurology ,ALS ,genetic ,business ,030217 neurology & neurosurgery ,Amyotrophic Lateral Sclerosi - Abstract
Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder., This genetic association study identifies genetic variants associated with juvenile amyotrophic lateral sclerosis., Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures De novo variants present only in the index case and not in unaffected family members. Results Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.
- Published
- 2021
16. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- Author
-
Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, null Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Stefan M. Pulst, John M. Ravits, Daniel J.L. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Isabella Simone, Giancarlo Logroscino, Ilaria Bartolomei, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Gianluigi Mancardi, Paola Origone, Paola Mandich, Sebastiano Cavallaro, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Paola Carrera, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Rossella Spataro, Tiziana Colletti, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Neil A. Shneider, Stephen Goutman, Siddharthan Chandran, Suvankar Pal, George Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Andrew S. Allen, Stanley Appel, Richard S. Bedlack, Braden E. Boone, Robert Brown, John P. Carulli, Alessandra Chesi, Wendy K. Chung, Elizabeth T. Cirulli, Gregory M. Cooper, Julien Couthouis, Aaron G. Day-Williams, Patrick A. Dion, Yujun Han, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Slavé Petrovski, Alya R. Raphael, Zhong Ren, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Justin Kwan, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Noah Zaitlen, Gregory A. Cox, Steve Finkbeiner, Efthimios Dardiotis, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Stacia Wyman, Alexander LeNail, Jenny Van Eyk, Stephan Züchner, Rebecca Schule, Jacob McCauley, Sumaira Hussain, Anne Cooley, Marielle Wallace, Christine Clayman, Richard Barohn, Jeffrey Statland, John Ravits, Andrea Swenson, Carlayne Jackson, Jaya Trivedi, Shaida Khan, Jonathan Katz, Liberty Jenkins, Ted Burns, Kelly Gwathmey, James Caress, Corey McMillan, Lauren Elman, Erik Pioro, Jeannine Heckmann, Yuen So, David Walk, Samuel Maiser, Jinghui Zhang, Fabiola De Marchi, Stefania Corti, Mauro Ceroni, Gabriele Siciliano, Massimiliano Filosto, Maurizio Inghilleri, Silvia Peverelli, Claudia Colombrita, Barbara Poletti, Luca Maderna, Roberto Del Bo, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Viviana Pensato, Barbara Castellotti, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, Ahmad Al Kheifat, Peter Andersen, Adriano Chio, Jonathan Cooper-Knock, Annelot Dekker, Vivian Drory, Alberto Garcia Redondo, Marc Gotkine, Winston Hide, Alfredo Iacoangeli, Jonathan Glass, Kevin Kenna, Matthew Kiernan, John Landers, Russell McLaughlin, Jonathan Mill, Miguel Mitne Neto, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Susana Pinto, Sara Pulit, Pamela Shaw, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristel van Eijk, Michael van Es, Joke van Vugt, Jan Veldink, Mayana Zatz, Denis C. Bauer, Natalie A. Twine, Department of Neurosciences, Pentti Tienari / Principal Investigator, Neurologian yksikkö, Research Programs Unit, Clinicum, Research Programme for Molecular Neurology, University of Helsinki, Medicum, Department of Pathology, HUS Neurocenter, Nicolas A., Kenna K.P., Renton A.E., Ticozzi N., Faghri F., Chia R., Dominov J.A., Kenna B.J., Nalls M.A., Keagle P., Rivera A.M., van Rheenen W., Murphy N.A., van Vugt J.J.F.A., Geiger J.T., Van der Spek R.A., Pliner H.A., Shankaracharya, Smith B.N., Marangi G., Topp S.D., Abramzon Y., Gkazi A.S., Eicher J.D., Kenna A., Logullo F.O., Simone I.L., Logroscino G., Salvi F., Bartolomei I., Borghero G., Murru M.R., Costantino E., Pani C., Puddu R., Caredda C., Piras V., Tranquilli S., Cuccu S., Corongiu D., Melis M., Milia A., Marrosu F., Marrosu M.G., Floris G., Cannas A., Capasso M., Caponnetto C., Mancardi G., Origone P., Mandich P., Conforti F.L., Cavallaro S., Mora G., Marinou K., Sideri R., Penco S., Mosca L., Lunetta C., Pinter G.L., Corbo M., Riva N., Carrera P., Volanti P., Mandrioli J., Fini N., Fasano A., Tremolizzo L., Arosio A., Ferrarese C., Trojsi F., Tedeschi G., Monsurro M.R., Piccirillo G., Femiano C., Ticca A., Ortu E., La Bella V., Spataro R., Colletti T., Sabatelli M., Zollino M., Conte A., Luigetti M., Lattante S., Santarelli M., Petrucci A., Pugliatti M., Pirisi A., Parish L.D., Occhineri P., Giannini F., Battistini S., Ricci C., Benigni M., Cau T.B., Loi D., Calvo A., Moglia C., Brunetti M., Barberis M., Restagno G., Casale F., Marrali G., Fuda G., Ossola I., Cammarosano S., Canosa A., Ilardi A., Manera U., Grassano M., Tanel R., Pisano F., Mazzini L., Messina S., D'Alfonso S., Corrado L., Ferrucci L., Harms M.B., Goldstein D.B., Shneider N.A., Goutman S.A., Simmons Z., Miller T.M., Chandran S., Pal S., Manousakis G., Appel S.H., Simpson E., Wang L., Baloh R.H., Gibson S.B., Bedlack R., Lacomis D., Sareen D., Sherman A., Bruijn L., Penny M., Moreno C.D.A.M., Kamalakaran S., Allen A.S., Boone B.E., Brown R.H., Carulli J.P., Chesi A., Chung W.K., Cirulli E.T., Cooper G.M., Couthouis J., Day-Williams A.G., Dion P.A., Gitler A.D., Glass J.D., Han Y., Harris T., Hayes S.D., Jones A.L., Keebler J., Krueger B.J., Lasseigne B.N., Levy S.E., Lu Y.-F., Maniatis T., McKenna-Yasek D., Myers R.M., Petrovski S., Pulst S.M., Raphael A.R., Ravits J.M., Ren Z., Rouleau G.A., Sapp P.C., Sims K.B., Staropoli J.F., Waite L.L., Wang Q., Wimbish J.R., Xin W.W., Phatnani H., Kwan J., Broach J., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Hornstein E., MacGowan D.J.L., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Dubnau J., Nath A., Musunuri R.L., Evani U.S., Abhyankar A., Zody M.C., Kaye J., Wyman S.K., LeNail A., Lima L., Rothstein J.D., Svendsen C.N., Van Eyk J.E., Maragakis N.J., Kolb S.J., Cudkowicz M., Baxi E., Benatar M., Taylor J.P., Wu G., Rampersaud E., Wuu J., Rademakers R., Zuchner S., Schule R., McCauley J., Hussain S., Cooley A., Wallace M., Clayman C., Barohn R., Statland J., Swenson A., Jackson C., Trivedi J., Khan S., Katz J., Jenkins L., Burns T., Gwathmey K., Caress J., McMillan C., Elman L., Pioro E.P., Heckmann J., So Y., Walk D., Maiser S., Zhang J., Silani V., Gellera C., Ratti A., Taroni F., Lauria G., Verde F., Fogh I., Tiloca C., Comi G.P., Soraru G., Cereda C., De Marchi F., Corti S., Ceroni M., Siciliano G., Filosto M., Inghilleri M., Peverelli S., Colombrita C., Poletti B., Maderna L., Del Bo R., Gagliardi S., Querin G., Bertolin C., Pensato V., Castellotti B., Camu W., Mouzat K., Lumbroso S., Corcia P., Meininger V., Besson G., Lagrange E., Clavelou P., Guy N., Couratier P., Vourch P., Danel V., Bernard E., Lemasson G., Laaksovirta H., Myllykangas L., Jansson L., Valori M., Ealing J., Hamdalla H., Rollinson S., Pickering-Brown S., Orrell R.W., Sidle K.C., Hardy J., Singleton A.B., Johnson J.O., Arepalli S., Polak M., Asress S., Al-Sarraj S., King A., Troakes C., Vance C., de Belleroche J., ten Asbroek A.L.M.A., Munoz-Blanco J.L., Hernandez D.G., Ding J., Gibbs J.R., Scholz S.W., Floeter M.K., Campbell R.H., Landi F., Bowser R., Kirby J., Pamphlett R., Gerhard G., Dunckley T.L., Brady C.B., Kowall N.W., Troncoso J.C., Le Ber I., Heiman-Patterson T.D., Kamel F., Van Den Bosch L., Strom T.M., Meitinger T., Shatunov A., Van Eijk K.R., de Carvalho M., Kooyman M., Middelkoop B., Moisse M., McLaughlin R.L., Van Es M.A., Weber M., Boylan K.B., Van Blitterswijk M., Morrison K.E., Basak A.N., Mora J.S., Drory V.E., Shaw P.J., Turner M.R., Talbot K., Hardiman O., Williams K.L., Fifita J.A., Nicholson G.A., Blair I.P., Esteban-Perez J., Garcia-Redondo A., Al-Chalabi A., Al Kheifat A., Andersen P.M., Chio A., Cooper-Knock J., Dekker A., Redondo A.G., Gotkine M., Hide W., Iacoangeli A., Kiernan M., Landers J.E., Mill J., Neto M.M., Pardina J.M., Newhouse S., Pinto S., Pulit S., Robberecht W., Shaw C., Sproviero W., Tazelaar G., Van Damme P., van den Berg L.H., van Vugt J., Veldink J.H., Zatz M., Bauer D.C., Twine N.A., Rogaeva E., Zinman L., Brice A., Feldman E.L., Ludolph A.C., Weishaupt J.H., Trojanowski J.Q., Stone D.J., Tienari P., Shaw C.E., Traynor B.J., ITALSGEN Consortium, Genomic Translation ALS Care GTAC, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Fdn, Clinical Res ALS Related Disorders, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consor, Medical Research Council (MRC), ANS - Complex Trait Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Università cattolica del Sacro Cuore [Roma] (Unicatt), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1), Lunar and Planetary Laboratory [Tucson] (LPL), University of Arizona, Università degli studi di Torino (UNITO), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), New York Genome Center [New York], New York Genome Center, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), St Jude Children's Research Hospital, Howard Hughes Medical Institute [Chevy Chase] (HHMI), Howard Hughes Medical Institute (HHMI), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University College of London [London] (UCL), Synchrotron SOLEIL (SSOLEIL), Centre National de la Recherche Scientifique (CNRS), King‘s College London, University of New Haven [Connecticut], Princeton University, Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Helmholtz-Zentrum München (HZM), University Medical Center [Utrecht], Deutsches Forschungszentrum für Künstliche Intelligenz GmbH = German Research Center for Artificial Intelligence (DFKI), Mayo Clinic [Jacksonville], Trinity College Dublin, Maurice Wohl Clinical Neuroscience Institut, Tanz Center Research in Neurodegenerative Diseases [Toronto], University of Toronto, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Repositório da Universidade de Lisboa, Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke J F A, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Null, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Logullo, Fo, Murru, Mr, Marrosu, Mg, Conforti, Fl, Pinter, Gl, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Parish, Ld, Cau, Tb, Moreno, Cristiane de Araujo Martin, Kamalakaran, Sitharthan, Goldstein, David B, Gitler, Aaron D, Harris, Tim, Myers, Richard M, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, Lenail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W, Sidle, Katie C, Malaspina, Andrea, Hardy, John, Singleton, Andrew B, Johnson, Janel O, Arepalli, Sampath, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, Ten Asbroek, Anneloor L M A, Muñoz-Blanco, José Lui, Hernandez, Dena G, Ding, Jinhui, Gibbs, J Raphael, Scholz, Sonja W, Floeter, Mary Kay, Campbell, Roy H, Landi, Francesco, Bowser, Robert, Pulst, Stefan M, Ravits, John M, Macgowan, Daniel J L, Kirby, Janine, Pioro, Erik P, Pamphlett, Roger, Broach, Jame, Gerhard, Glenn, Dunckley, Travis L, Brady, Christopher B, Kowall, Neil W, Troncoso, Juan C, Le Ber, Isabelle, Mouzat, Kevin, Lumbroso, Serge, Heiman-Patterson, Terry D, Kamel, Freya, Van Den Bosch, Ludo, Baloh, Robert H, Strom, Tim M, Meitinger, Thoma, Shatunov, Aleksey, Van Eijk, Kristel R, de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Ba, Moisse, Matthieu, Mclaughlin, Russell L, Van Es, Michael A, Weber, Marku, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E, Basak, A Nazli, Mora, Jesús S, Drory, Vivian E, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Hardiman, Orla, Williams, Kelly L, Fifita, Jennifer A, Nicholson, Garth A, Blair, Ian P, Rouleau, Guy A, Esteban-Pérez, Jesú, García-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W, Maragakis, Nicholas J, Rothstein, Jeffrey D, Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexi, Goutman, Stephen A, Feldman, Eva L, Gibson, Summer B, Taroni, Franco, Ratti, Antonia, Gellera, Cinzia, Van Damme, Philip, Robberecht, Wim, Fratta, Pietro, Sabatelli, Mario, Lunetta, Christian, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Camu, William, Trojanowski, John Q, Van Deerlin, Vivianna M, Brown, Robert H, van den Berg, Leonard H, Veldink, Jan H, Harms, Matthew B, Glass, Jonathan D, Stone, David J, Tienari, Pentti, Silani, Vincenzo, Chiò, Adriano, Shaw, Christopher E, Traynor, Bryan J, Landers, John E, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)
- Subjects
Male ,Als gene ,Genome-wide association study ,FAMILIAL ALS ,ALS ,axonal transport ,cargo ,GWAS ,KIF5A ,WES ,WGS ,0302 clinical medicine ,80 and over ,Psychology ,Aetiology ,Aged, 80 and over ,0303 health sciences ,French ALS Consortium ,Kinesin ,KINESIN HEAVY-CHAIN ,Cognitive Sciences ,Human ,Hereditary spastic paraplegia ,Neuroscience(all) ,Single-nucleotide polymorphism ,TARGETED DISRUPTION ,Article ,03 medical and health sciences ,Genetics ,Humans ,Amino Acid Sequence ,Loss function ,Aged ,HEXANUCLEOTIDE REPEAT ,Neuroscience (all) ,MUTATIONS ,Amyotrophic Lateral Sclerosis ,3112 Neurosciences ,1702 Cognitive Science ,medicine.disease ,ITALSGEN Consortium ,Answer ALS Foundation ,030104 developmental biology ,ALS Sequencing Consortium ,Human medicine ,1109 Neurosciences ,030217 neurology & neurosurgery ,0301 basic medicine ,[SDV]Life Sciences [q-bio] ,Kinesins ,Neurodegenerative ,Genetic analysis ,Genome ,AMYOTROPHIC-LATERAL-SCLEROSIS ,3124 Neurology and psychiatry ,Cohort Studies ,Pathogenesis ,Loss of Function Mutation ,Missense mutation ,2.1 Biological and endogenous factors ,Amyotrophic lateral sclerosis ,NYGC ALS Consortium ,General Neuroscience ,ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS ,Middle Aged ,Phenotype ,Settore MED/26 - NEUROLOGIA ,Neurological ,Project MinE ALS Sequencing Consortium ,Female ,Adult ,Biology ,GENOTYPE IMPUTATION ,Genome-Wide Association Study ,Young Adult ,NO ,Rare Diseases ,medicine ,SLAGEN Consortium ,Gene ,030304 developmental biology ,Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium ,Neurology & Neurosurgery ,Human Genome ,Neurosciences ,AXONAL-TRANSPORT ,Brain Disorders ,Family member ,DNA-DAMAGE ,MOTOR-NEURONS ,3111 Biomedicine ,Cohort Studie ,Genomic Translation for ALS Care (GTAC) Consortium ,Amyotrophic Lateral Sclerosi - Abstract
© 2018 Elsevier Inc., To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
- Published
- 2018
17. ALSUntangled #75: Portable neuromodulation stimulator therapy.
- Author
-
Officer L, Armon C, Barkhaus P, Beauchamp M, Benatar M, Bertorini T, Bowser R, Bromberg M, Brown A, Carbunar OM, Carter GT, Crayle J, Denson K, Feldman E, Fullam T, Heiman-Patterson T, Jackson C, Jhooty S, Levinson D, Li X, Linares A, Mallon E, Mascias Cadavid J, Mcdermott C, Mushannen T, Ostrow L, Patel R, Pattee G, Ratner D, Sun Y, Sladky J, Wicks P, and Bedlack R
- Subjects
- Humans, Amyotrophic Lateral Sclerosis therapy, Electric Stimulation Therapy methods, Electric Stimulation Therapy instrumentation
- Abstract
Spurred by patient interest, ALSUntangled herein examines the potential of the Portable Neuromodulation Stimulator (PoNS™) in treating amyotrophic lateral sclerosis (ALS). The PoNS™ device, FDA-approved for the treatment of gait deficits in adult patients with multiple sclerosis, utilizes translingual neurostimulation to stimulate trigeminal and facial nerves via the tongue, aiming to induce neuroplastic changes. While there are early, promising data for PoNS treatment to improve gait and balance in multiple sclerosis, stroke, and traumatic brain injury, no pre-clinical or clinical studies have been performed in ALS. Although reasonably safe, high costs and prescription requirements will limit PoNS accessibility. At this time, due to the lack of ALS-relevant data, we cannot endorse the use of PoNS as an ALS treatment.
- Published
- 2024
- Full Text
- View/download PDF
18. Employment of Certified Peer Specialists in Mental Health Professional Shortage Areas.
- Author
-
Ostrow L, Cook JA, Salzer MS, Pelot M, and Burke-Miller JK
- Subjects
- Humans, United States, Employment, Counseling, Health Personnel psychology, Mental Health, Mental Health Services
- Abstract
The current demand for mental health services is exacerbated by an ongoing shortage of behavioral health care providers in the United States. The Health Resources and Services Administration has identified 5,833 Mental Health Professional Shortage Areas (MHPSAs), many of which are rural, and could be served by Certified Peer Specialists (CPSs). This paper examines the relationship between CPS employment and MHPSA residency. Data are from a 2020 survey of 572 CPS certified in one of four states. Random effects logistic regression models were used to test the relationship between MHPSA residence and employment outcomes. Of 166 unique counties identified by participant zip codes, 47 were characterized as being MHPSAs with 14% of participants residing in one of these counties. A higher proportion of those living in MHPSAs were employed in peer support jobs (rather than other job types or unemployed) compared to those living in non-MHPSAs (68% vs. 54%, p = .020). MHPSA residential status was not a significant predictor of employment status (OR = 1.14, p = .728) but was significantly associated with greater likelihood of employment in peer support compared to other jobs, both for the entire sample (OR = 2.13, p = .026), and among those currently employed (OR = 2.90, p = .032). The greater likelihood of working in peer support among those residing in MHPSAs suggests that CPSs may leverage their credential to address shortages. As a result, peer support may become a more necessary part of the traditional service array. Policies that enable CPS to practice in MHPSAs should be encouraged., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
- Published
- 2024
- Full Text
- View/download PDF
19. "Once a peer always a peer": A qualitative study of peer specialist experiences with employment following state certification.
- Author
-
Siantz E, Pelot M, and Ostrow L
- Subjects
- Humans, Prospective Studies, Qualitative Research, Certification, Employment, Mental Health, Peer Group
- Abstract
Objective: Peer specialists are people with lived experience of a mental health or substance use disorder who are certified to deliver peer support services under state training programs. This qualitative study explored recently certified peer specialist (CPS) experiences navigating the job market to find postcertification employment, experiences with employment once in the workforce, and reflections on CPS training., Method: Qualitative data were collected as part of a multistate, 3-year observational prospective cohort study of CPS graduate employment trajectories. We conducted 25 in-depth, semistructured interviews with a subsample of recent CPS graduates who indicated a range of employment experiences in a survey as part of the parent study. Interviews focused on their current employment and satisfaction with the position and experiences looking for work. Data were analyzed using constant comparative methods informed by grounded theory., Results: Participants described factors that supported or undermined securing employment, which included a shortage of CPS positions, their professional networking skills, financial considerations, and a position's alignment with CPS values. Once employed, participants described how relationships with supervisors and coworkers, which ranged from supportive to confused about the value of the peer specialist role, impacted their work. In general, participants held their CPS training and certification in high regard., Conclusions and Implications for Practice: Our findings highlight policy, employment, and practice opportunities to strengthen CPS training to improve their work readiness of graduates and expand their role, while preparing organizations and their staff to hire and work inclusively with CPSs. (PsycInfo Database Record (c) 2023 APA, all rights reserved).
- Published
- 2023
- Full Text
- View/download PDF
20. ALSUntangled #63: ketogenic diets.
- Author
-
Bedlack R, Barkhaus PE, Barnes B, Beauchamp M, Bertorini T, Bromberg MB, Carter GT, Chaudry V, Cudkowicz M, Jackson C, Levitsky G, Lund I, McDermott C, Novella S, Olby N, Ostrow L, Pattee GL, Heiman-Patterson T, Ratner D, Salmon K, Steves S, Terrelonge M, Wicks P, and Wills AM
- Subjects
- Animals, Humans, Mice, Disease Models, Animal, Amyotrophic Lateral Sclerosis diet therapy, Diet, Ketogenic
- Abstract
ALSUntangled reviews alternative and off label treatments with a goal of helping patients make more informed decisions about them. Here we review ketogenic diets. We shows that these have plausible mechanisms, including augmenting cellular energy balance and reducing excitotoxicity, neuroinflammation and oxidative stress. We review a mouse model study, anecdotal reports and trials in ALS and other diseases. We conclude that there is yet not enough data to recommend ketogenic diets for patients with ALS, especially in light of the many side effects these can have.
- Published
- 2023
- Full Text
- View/download PDF
21. Employment Outcomes After Certification as a Behavioral Health Peer Specialist in Four U.S. States.
- Author
-
Ostrow L, Cook JA, Salzer MS, Pelot M, and Burke-Miller JK
- Subjects
- Adult, Humans, Unemployment psychology, Peer Group, Certification, Employment, Mental Health Services
- Abstract
Objective: A 3-year study explores employment outcomes of certified peer specialists (CPSs). Analyses reported here identified relationships between demographic, clinical, work history, and geographic characteristics and employment status and current employment in peer services jobs versus other jobs., Methods: The study recruited adults who recently became a CPS, regardless of current employment status, in four states. Online survey data were collected from March to October 2020 and included demographic information, health status and diagnoses, mental health service use, motivations for becoming certified, employment history, and job characteristics, including job satisfaction. Descriptive statistics and logistic regression models were used to compare groups., Results: Of 681 respondents, 591 provided data on current employment and were included. Participants who received Social Security Disability Insurance or Supplemental Security Income, veterans, those who used outpatient counseling or therapy, and those who did not disclose their mental health status in the workplace were less likely to report current employment. Lack of disclosure and higher local unemployment rates contributed to a lower likelihood of working in peer services jobs, whereas individuals reporting depressive disorders were more likely to hold such jobs. Compared with those in other jobs, those in peer services jobs reported longer job tenure, and a larger proportion received employee benefits. Job satisfaction was significantly higher among those with peer services jobs., Conclusions: Workers with a CPS credential had higher employment rates, compared with adults with psychiatric disabilities, and the quality of peer specialist jobs was equal to or higher than the quality of other jobs held by study participants.
- Published
- 2022
- Full Text
- View/download PDF
22. User Perspectives on Professional Support and Service Use During Psychiatric Medication Discontinuation.
- Author
-
Darrow S, Pelot M, Naeger S, and Ostrow L
- Subjects
- Humans, Surveys and Questionnaires
- Abstract
Psychiatric medication discontinuation is common and can have negative impacts. Until recently, most research on discontinuation happened in an adherence/compliance framework. There is now recognition that discontinuation may be a desired goal for many individuals. The purpose of the present paper is to describe the results of a pioneering survey to explore professional support to service users during medication discontinuation to inform clinical practice and guide future research. Survey responses from 250 service users were summarized with regard to their use of prescriber and psychotherapy services during the process of discontinuing psychiatric medication. Only 65% of respondents reported seeing a prescriber and less than 50% reported seeing a psychotherapist while attempting to discontinue psychiatric medication. Combined with respondents' answers describing the decision-making process and support received from these services, this paper identifies gaps in service and the need to improve providers' ability to support individuals while they discontinue psychiatric medication., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
- Published
- 2022
- Full Text
- View/download PDF
23. Predictors of worklife burnout among mental health certified peer specialists.
- Author
-
Ostrow L, Cook J, Salzer M, Pelot M, and Burke-Miller J
- Subjects
- Humans, Mental Health, Surveys and Questionnaires, Working Conditions, Workload psychology, Burnout, Professional diagnosis, Burnout, Professional psychology, Mental Disorders therapy
- Abstract
Certified peer specialists (CPSs) are a growing workforce that uses their lived experience of a behavioral health disorders plus skills learned in formal training to deliver support services. Despite their important role in the mental health care system and research on their working conditions, experiences of burnout have not been widely studied among CPSs. This study uses survey data from CPSs who were currently employed in any type of job, providing peer support services or not. Using the Maslach Burnout Inventory (MBI) and Areas of Worklife Survey (AWS), along with other measures of personal and job characteristics, relationships of predictors variables to burnout measures were described in unadjusted and adjusted linear regression models. Scores on each of the averaged burnout measures differed significantly between those employed in peer services jobs and those in other job types, with those in peer services jobs reporting lower exhaustion, cynicism, and higher professional efficacy. Better workload and fairness were associated with significantly lower exhaustion, and better reward and community were both associated with significantly lower cynicism. Those employed in peer services jobs had fewer signs of burnout than those in other occupations, in keeping with prior research. (PsycInfo Database Record (c) 2022 APA, all rights reserved).
- Published
- 2022
- Full Text
- View/download PDF
24. Characteristics of peer respites in the United States: Expanding the continuum of care for psychiatric crisis.
- Author
-
Pelot M and Ostrow L
- Subjects
- Continuity of Patient Care, Humans, Peer Group, SARS-CoV-2, United States, COVID-19, Pandemics
- Abstract
Objective: Peer respites are recovery-oriented services where people who identify as having lived experience of extreme mental health states (peers) support individuals experiencing, or at risk of, crises in a homelike environment. This brief report describes data from the Peer Respite Essential Features survey, conducted biannually from 2014 to 2020, which explores the peer respite model and program challenges., Method: Peer respites nationwide were invited to participate if they met specific guidelines, resulting in 32 programs across 14 states in 2020., Results: Results focus on the data collected in 2020 and compare past reports where applicable. Characteristics including funding, guest accommodations and policies, and how the programs were impacted by the COVID-19 pandemic are discussed., Conclusions and Implications for Practice: More research is needed to understand the relationship between program characteristics and effectiveness of peer respites compared to other crisis diversion services and how to better support these growing programs. (PsycInfo Database Record (c) 2021 APA, all rights reserved).
- Published
- 2021
- Full Text
- View/download PDF
25. Supporting business owners with psychiatric disabilities: An exploratory analysis of challenges and supports.
- Author
-
Ostrow L, Burke-Miller JK, Pelot M, and Blyler CR
- Subjects
- Employment, Humans, Small Business, Social Support, Surveys and Questionnaires, Disabled Persons
- Abstract
Objective: Self-employed individuals with psychiatric disabilities may face unique challenges to running small businesses. This study aims to identify business-related challenges and examine whether supports designed to alleviate those challenges are associated with positive business milestones and self-employment satisfaction., Methods: Data were collected via a survey of 60 participants with a history of psychiatric disability who were operating a U.S.-based small business. This exploratory study used descriptive statistics to look at the relationship between business challenges, business development supports, business milestones, and satisfaction with self-employment., Results: Although most participants reported experiencing business challenges and using supports, relatively few supports were helpful in the context of specific challenges. The number of challenges was positively correlated with the amount of supports used. Respondents used interpersonal or informal supports more often than help from organizations or institutions and tended to find these more helpful. The satisfaction of owning a business was generally high and positively correlated with the age of the business. Satisfaction was not necessarily tied to normative reasons such as business gross or percent of income., Conclusions and Implications for Practice: In this study, self-employed individuals with a psychiatric disability appear to prefer-or have greater access to-informal or interpersonal support, compared to institutional support. This may indicate that these owners have different needs for support, or that they do not use mainstream institutional resources that facilitate sustainability and growth, and therefore targeted efforts to provide formal support may be needed. (PsycInfo Database Record (c) 2021 APA, all rights reserved).
- Published
- 2021
- Full Text
- View/download PDF
26. Self-reliance and belonging: Guest experiences of a peer respite.
- Author
-
Croft B, Weaver A, and Ostrow L
- Subjects
- Counseling, Humans, Mental Health, Qualitative Research, Peer Group, Self-Management
- Abstract
Objective: A peer respite is a voluntary, short-term, overnight program that provides community-based mutual support to people experiencing a mental health crisis. This qualitative study of guest experiences at 1 peer respite examines its role in fostering recovery and wellbeing. Method: Conventional content analysis of interviews with 20 peer respite guests resulted in a thematic framework containing 7 "clusters" of themes with related subthemes. Results: The following themes emerged from the analysis and include both positive and negative experiences: belongingness, confidence and hope, crisis self-management, experiencing mutual support, freedom and responsibility, linking to community, and conflict and confrontation. Some guests endorsed the peer respite as a temporary break from stressful life situations, a homelike space for mutual support and community, and a preferred alternative to traditional crisis services. Others struggled with the unstructured environment and expectations for shared responsibility and self-reliance. Conclusions and Implications for Practice: Peer respites strengthen self-reliance and social connectedness and offer a viable alternative to traditional crisis services for some people some of the time. The results suggest potential "key ingredients" for peer respites, including a homelike environment, voluntary and self-determined supports, and peer support staff who possess the capacity for developing healing and genuine connections with guests while also promoting shared responsibility and self-reliance. Future research should further develop this theory of change and establish peer respite fidelity criteria based on program elements that seem to contribute to positive outcomes. (PsycInfo Database Record (c) 2021 APA, all rights reserved).
- Published
- 2021
- Full Text
- View/download PDF
27. Development and properties of a measure designed to assess core competencies in intentional peer support.
- Author
-
Penney D, Ostrow L, and Burke-Miller J
- Subjects
- Humans, Psychometrics, Reproducibility of Results, Surveys and Questionnaires, Outcome Assessment, Health Care
- Abstract
Objective: Intentional Peer Support (IPS) is a peer-developed, theoretically based, manualized approach that is used in multiple countries. This research aimed to develop and test a measure that can be administered to service users to provide quantitative data for assessing IPS core competencies (IPSCC) in outcomes research., Methods: Ten items based on IPSCC dimensions were developed and revised in an iterative process and administered in face-to-face interviews with 84 respondents. Internal consistency, test-retest reliability, and convergent validity were examined., Results: The IPSCC measure demonstrated good internal consistency (Cronbach's alpha of .85) and 2-week test-retest reliability (r = .98, p < .001), as well as satisfactory convergent validity., Conclusions and Implications for Practice: This study provides a foundation for future process-oriented research on IPS, and potentially other forms of peer support, to systematically document and appraise participant experiences. (PsycInfo Database Record (c) 2021 APA, all rights reserved).
- Published
- 2021
- Full Text
- View/download PDF
28. Risk Factors Associated With Child Protective Services Involvement Among Parents With a Serious Mental Illness.
- Author
-
Ostrow L, Kaplan K, Zisman-Ilani Y, Brusilovskiy E, Smith C, and Salzer MS
- Subjects
- Child, Child Protective Services, Humans, Parenting, Parents, Risk Factors, Mental Disorders epidemiology, Substance-Related Disorders
- Abstract
Objective: People with serious mental illnesses are as likely to be parents as people in the general population but are much more likely to have contact with child protective services (CPS) and experience an out-of-home placement of their children. This study sought to identify risk factors for CPS involvement among parents with serious mental illnesses., Methods: Parents with a serious mental illness were identified through a national, representative survey. Data from a follow-up interview were used to compare characteristics of parents who had a CPS contact (N=36) with those who did not (N=38). The interview assessed demographic and health characteristics, social support, traumatic life events, and other general risk factors for CPS involvement., Results: Compared with parents without CPS contact, parents with a CPS contact were more likely to be nonwhite and to be less educated. They were also more likely to have less attachment-related social support, more parenting-related needs in numerous areas, and more substance use-related issues and to have experienced adverse childhood and traumatic events. One-quarter of the parents with CPS contact reported not having a mental disorder diagnosis at the time of the first contact, and those in the CPS group were less likely to have taken medications at the time of the first contact than were parents who did not have a CPS contact., Conclusions: Results suggest a need for policies, programs, and practices that attend to common risk factors associated with CPS involvement that are present in the general population rather than concentrating efforts on addressing behavioral health factors specific to parents with serious mental illness.
- Published
- 2021
- Full Text
- View/download PDF
29. Service learning within community-engaged research: Facilitating nursing student learning outcomes.
- Author
-
Horning ML, Ostrow L, Beierwaltes P, Beaudette J, Schmitz K, and Fulkerson JA
- Subjects
- Humans, Learning, Nurse's Role, Education, Nursing, Baccalaureate, Nursing Research, Students, Nursing
- Abstract
The objective of this manuscript is to describe a method of integrating baccalaureate nursing student service-learning experiences within a randomized controlled trial conducted in a community setting to facilitate student learning and expose students to the nursing scientist role. Placing students in a research service-learning experience involved several steps beginning with finding a nursing program for potential collaboration where this service-learning opportunity would be a natural fit with course content and formalizing the collaboration between the two institutions. Upon receipt of research grant funding, researchers and course faculty worked to navigate logistics and place students within the service-learning experience. After research training, 35 students assisted with intervention delivery and completed course assignments to document their learning. The collaboration described between a community-engaged research team from a research-intensive university and course faculty from a distant institution could be replicated with all types of nursing research., (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Published
- 2020
- Full Text
- View/download PDF
30. Service costs and mental health self-direction: Findings from consumer recovery investment fund self-directed care.
- Author
-
Croft B, Battis K, Ostrow L, and Salzer MS
- Subjects
- Adult, Budgets methods, Costs and Cost Analysis, Facilities and Services Utilization economics, Female, Humans, Male, Medicaid statistics & numerical data, Mental Health economics, Middle Aged, United States, Mental Health Services organization & administration, Patient Participation economics, Patient Participation methods, Patient Participation psychology, Psychiatric Rehabilitation economics, Psychiatric Rehabilitation methods, Psychiatric Rehabilitation psychology, Self Care economics, Self Care methods, Self Care psychology
- Abstract
Objective: Mental health self-direction, also known as self-directed care , involves an individual budget controlled by the participant with support from a specially trained recovery coach. The model under study here, implemented in a Medicaid behavioral health managed care context, allowed individuals to intentionally reduce mental health service use and apply cost savings as "Freedom Funds" to purchase a range of goods and services that are not typically considered mental health services to support recovery. This pre-post study examined mental health service utilization and cost before and after participating in self-direction., Methods: The study involved Medicaid claims data for 45 self-directing participants over a 3-year period. Bivariate statistics were computed to identify meaningful pre-post differences in service utilization and standardized monthly costs., Results: Median standardized monthly mental health clinical outpatient costs were significantly lower after self-direction participation compared to before. Participants spent a mean of $182 per month in Freedom Funds to purchase a range of nonclinical goods and services to work toward recovery goals. Total service costs-including Freedom Funds used during self-direction-did not differ significantly before and after program participation., Conclusions and Implications for Practice: Findings from this modest pre-post examination of self-direction suggest that mental health self-direction can result in more person-driven, individualized services without increasing costs. More research is needed to examine the cost-effectiveness of self-direction and to understand how program design and implementation factors influence the relationship between self-direction and service costs. (PsycINFO Database Record (c) 2019 APA, all rights reserved).
- Published
- 2019
- Full Text
- View/download PDF
31. Self-Employment for People with Psychiatric Disabilities: Advantages and Strategies.
- Author
-
Ostrow L, Nemec PB, and Smith C
- Subjects
- Entrepreneurship, Humans, Self Efficacy, Social Security, United States, Work psychology, Disabled Persons psychology, Employment methods, Employment psychology, Mental Disorders psychology
- Abstract
Self-employment is an alternative to wage employment and an opportunity to increase labor force participation by people with psychiatric disabilities. Self-employment refers to individuals who work for themselves, either as an unincorporated sole proprietor or through ownership of a business. Advantages of self-employment for people with psychiatric disabilities, who may have disrupted educational and employment histories, include opportunities for self-care, additional earning, and career choice. Self-employment fits within a recovery paradigm because of the value placed on individual preferences, and the role of resilience and perseverance in business ownership. Self-employment creates many new US jobs, but remains only a small percentage of employment closures for people with psychiatric disabilities, despite vocational rehabilitation and Social Security disability policies that encourage it. This commentary elucidates the positive aspects of self-employment in the context of employment challenges experienced by individuals with psychiatric disabilities and provides recommendations based on larger trends in entrepreneurship.
- Published
- 2019
- Full Text
- View/download PDF
32. "It suits my needs": Self-employed individuals with psychiatric disabilities and small businesses.
- Author
-
Ostrow L, Smith C, Penney D, and Shumway M
- Subjects
- Adult, Female, Humans, Male, Middle Aged, Employment psychology, Mental Disorders psychology, Mental Disorders rehabilitation, Mentally Ill Persons psychology, Small Business
- Abstract
Objective: Small business is a favorably regarded institution in America. Given employment disparities among individuals with psychiatric disabilities compared to other workers, self-employment has potential to promote career development and community integration. However, little is known about what has helped or hindered current small business owners with psychiatric disabilities. This exploratory study identified characteristics of individuals' work and disability histories, as well as business characteristics, that can inform policy and practice development in support of disability-owned small businesses., Method: A nonprobability sample of 60 U.S. adults with a history of psychiatric disability who were self-employed in 2017 completed a web-based survey that asked about demographics, experiences of disability, motivations for self-employment, and business characteristics., Results: Most survey respondents were operating new, very small, unincorporated home-based service businesses on a part-time basis. Respondents were educated, typically with extensive work histories, but had experienced discrimination and unpleasant attitudes from coworkers and supervisors. Responses highlighted the importance of freedom and work-life balance., Conclusions and Implications for Practice: Self-employment is not necessarily a fit for everyone, but for individuals with psychiatric disabilities, it may be a pathway back to work. The size of the respondent businesses and the part-time nature of the work suggests that individuals with psychiatric disabilities are operating very small businesses that may serve as a wage employment alternative if they are able to grow in the future, or be sustained as a part-time adjunct to public benefits or other paid or unpaid work. (PsycINFO Database Record (c) 2019 APA, all rights reserved).
- Published
- 2019
- Full Text
- View/download PDF
33. Attitudes of Mental Health Peer-Run Organizations Towards Health Homes: Recommendations for Policy and Practice.
- Author
-
Siantz E and Ostrow L
- Subjects
- Humans, Logistic Models, Mental Health Services statistics & numerical data, Practice Guidelines as Topic, Surveys and Questionnaires, Attitude to Health, Community Mental Health Centers statistics & numerical data, Mental Health Services organization & administration, Peer Group
- Abstract
This study examined peer-run organizations' attitudes towards collaborating in health homes. Data were drawn from the 2012 National Survey of Peer-Run Organizations. Multinomial logistic regression modeled the association between organizational willingness to participate in a health home and salient factors. Current efforts (OR = 5.05; p < 0.05), planned efforts (OR = 4.27; p < 0.05) to encourage physical healthcare, and staff size (OR = 1.09; p < 0.05) were associated with willingness to collaborate in health homes. Some organizations were concerned about power dynamics with potential medical collaborators. Relationships with medical providers, staffing capacity, and concerns about coercion should be considered when integrating peer-run organizations and health homes.
- Published
- 2019
- Full Text
- View/download PDF
34. Discontinuing Psychiatric Medications: A Survey of Long-Term Users.
- Author
-
Ostrow L, Jessell L, Hurd M, Darrow SM, and Cohen D
- Subjects
- Adult, Female, Health Services Research statistics & numerical data, Humans, Male, Middle Aged, Patient Participation, Personal Autonomy, Psychotropic Drugs adverse effects, Medication Adherence, Mental Disorders therapy, Psychotropic Drugs administration & dosage, Substance Withdrawal Syndrome
- Abstract
Objective: Individuals undergoing long-term psychiatric treatment frequently choose to stop taking psychiatric medications. To enhance service user choice and prevent undesirable outcomes, this first U.S. survey of a large sample of longer-term users sought to increase knowledge about users' experience of medication discontinuation., Methods: A sample of 250 U.S. adults with a diagnosis of serious mental illness and a recent goal to stop up to two prescribed psychiatric medications, which they had taken for at least nine months, completed a web-based survey about experiences, strategies, and supports during discontinuation., Results: About half (54%) met their goal of completely discontinuing one or more medications; 46% reported another outcome (use was reduced, use increased, or use stayed the same). Concerns about medications' effects (for example, long-term effects and side effects) prompted the decision to discontinue for 74% of respondents. They used various strategies to cope with withdrawal symptoms, which 54% rated as severe. Self-education and contact with friends and with others who had discontinued or reduced medications were most frequently cited as helpful. Although more than half rated the initial medication decision with prescribers as largely collaborative, only 45% rated prescribers as helpful during discontinuation. Of respondents who completely discontinued, 82% were satisfied with their decision., Conclusions: Discontinuing psychiatric medication appears to be a complicated and difficult process, although most respondents reported satisfaction with their decision. Future research should guide health care systems and providers to better support patient choice and self-determination regarding the use and discontinuation of psychiatric medication.
- Published
- 2017
- Full Text
- View/download PDF
35. Medicaid Reimbursement of Mental Health Peer-Run Organizations: Results of a National Survey.
- Author
-
Ostrow L, Steinwachs D, Leaf PJ, and Naeger S
- Subjects
- Humans, Mental Health Services economics, Mental Health Services statistics & numerical data, Patient Protection and Affordable Care Act, Peer Group, Surveys and Questionnaires, United States, Medicaid statistics & numerical data, Mental Health Services organization & administration
- Abstract
This study sought to understand whether knowledge of the Affordable Care Act (ACA) was associated with willingness of mental health peer-run organizations to become Medicaid providers. Through the 2012 National Survey of Peer-Run Organizations, organizational directors reported their organization's willingness to accept Medicaid reimbursement and knowledge about the ACA. Multinomial logistic regression was used to model the association between willingness to accept Medicaid and the primary predictor of knowledge of the ACA, as well as other predictors at the organizational and state levels. Knowledge of the ACA, Medicaid expansion, and discussions about healthcare reform were not significantly associated with willingness to be a Medicaid provider. Having fewer paid staff was associated with not being willing to be a Medicaid provider, suggesting that current staffing capacity is related to attitudes about becoming a Medicaid provider. Organizations had both ideological and practical concerns about Medicaid reimbursement. Concerns about Medicaid reimbursement can potentially be addressed through alternative financing mechanisms that should be able to meet the needs of peer-run organizations.
- Published
- 2017
- Full Text
- View/download PDF
36. Web-based Survey Data Collection With Peer Support and Advocacy Organizations: Implications of Participatory Methods.
- Author
-
Ostrow L, Penney D, Stuart E, and Leaf PJ
- Subjects
- Community Participation, Community-Based Participatory Research, Feasibility Studies, Humans, United States, Community Networks, Consumer Organizations organization & administration, Data Collection methods, Internet, Mental Disorders therapy, Patient Advocacy, Patient Participation, Peer Group, Social Support
- Abstract
Background: The 2012 National Survey of Peer-Run Organizations is one of the first to survey a nationally representative sample of mental health peer-run organizations, nonprofit venues for support and advocacy which are defined by people with psychiatric histories being in positions of authority and control., Objectives: This paper describes data collection methods and demonstrates how participatory strategies to involve people with psychiatric histories intersected with Internet research to achieve study aims., Methods: People with psychiatric histories were involved in designing and implementing a web-based survey to collect data on peer-run organizations' operations and views on national policy. Participatory approaches were used throughout design, data collection analysis, and dissemination., Conclusions: The extensive involvement of people with psychiatric histories in project design and implementation were important strategies that contributed to this study's success.
- Published
- 2017
- Full Text
- View/download PDF
37. Measurement of Perceived and Technical Quality of Care for Depression in Racially and Ethnically Diverse Groups.
- Author
-
Leff HS, Chow C, Wieman DA, Ostrow L, Cortés DE, and Harris T
- Subjects
- Adult, Communication, Cultural Characteristics, Cultural Competency, Ethnicity psychology, Female, Focus Groups, Humans, Male, Middle Aged, Professional-Patient Relations, Racial Groups psychology, Time Factors, Depression ethnology, Depression therapy, Patient Satisfaction ethnology, Perception, Quality of Health Care standards
- Abstract
Measurement of patient satisfaction is now considered essential for providing patient centered care and is an important tool for addressing health care disparities. However, little is known about how ethnically and racially diverse (ERD) groups differ in how they perceive quality, and widely used instruments for measuring perceived quality give little attention to cultural elements of care. This study examined the relationship between the culturally determined beliefs and expectations of four ERD groups (African Americans, Latinos, Portuguese-speakers, and Haitians, total N = 160) and the technical quality of treatment for depression provided in four "culturally-specific" primary care clinics. Using data from the Experiences of Care and Health Outcomes survey, chart reviews and focus groups, the study addressed a set of questions related to the psychometric properties of perceived care measures and the technical quality of care. The groups differed in preferred cultural elements except all preferred inclusion of religion. They did not differ in overall perceived quality. Technical quality was higher for Portuguese and Haitians than for African Americans and Latinos. Implications of group differences for measuring quality are discussed.
- Published
- 2016
- Full Text
- View/download PDF
38. Human endogenous retrovirus-K contributes to motor neuron disease.
- Author
-
Li W, Lee MH, Henderson L, Tyagi R, Bachani M, Steiner J, Campanac E, Hoffman DA, von Geldern G, Johnson K, Maric D, Morris HD, Lentz M, Pak K, Mammen A, Ostrow L, Rothstein J, and Nath A
- Subjects
- Amyotrophic Lateral Sclerosis pathology, Amyotrophic Lateral Sclerosis physiopathology, Amyotrophic Lateral Sclerosis virology, Animals, Behavior, Animal, Binding Sites, Brain pathology, Brain virology, DNA-Binding Proteins metabolism, Humans, Mice, Transgenic, Motor Neuron Disease pathology, Motor Neuron Disease physiopathology, Motor Neurons pathology, Motor Neurons virology, Nerve Degeneration pathology, Phenotype, Terminal Repeat Sequences genetics, Virus Activation, Endogenous Retroviruses physiology, Motor Neuron Disease virology
- Abstract
The role of human endogenous retroviruses (HERVs) in disease pathogenesis is unclear. We show that HERV-K is activated in a subpopulation of patients with sporadic amyotrophic lateral sclerosis (ALS) and that its envelope (env) protein may contribute to neurodegeneration. The virus was expressed in cortical and spinal neurons of ALS patients, but not in neurons from control healthy individuals. Expression of HERV-K or its env protein in human neurons caused retraction and beading of neurites. Transgenic animals expressing the env gene developed progressive motor dysfunction accompanied by selective loss of volume of the motor cortex, decreased synaptic activity in pyramidal neurons, dendritic spine abnormalities, nucleolar dysfunction, and DNA damage. Injury to anterior horn cells in the spinal cord was manifested by muscle atrophy and pathological changes consistent with nerve fiber denervation and reinnervation. Expression of HERV-K was regulated by TAR (trans-activation responsive) DNA binding protein 43, which binds to the long terminal repeat region of the virus. Thus, HERV-K expression within neurons of patients with ALS may contribute to neurodegeneration and disease pathogenesis., (Copyright © 2015, American Association for the Advancement of Science.)
- Published
- 2015
- Full Text
- View/download PDF
39. Hickam's dictum and the rare convergence of antisynthetase syndrome and hemoglobin SC disease.
- Author
-
Wilkinson ST, Grunwald MR, Paik JJ, Ostrow LW, and Gelber AC
- Subjects
- Acute Chest Syndrome diagnosis, Adult, Diagnosis, Differential, Dyspnea etiology, Female, Humans, Magnetic Resonance Imaging, Myalgia etiology, Tomography, X-Ray Computed, Acute Chest Syndrome etiology, Hemoglobin SC Disease complications, Muscle Weakness etiology, Myositis diagnosis
- Published
- 2015
- Full Text
- View/download PDF
40. Peer respites: a research and practice agenda.
- Author
-
Ostrow L and Croft B
- Subjects
- Humans, Program Development methods, Program Evaluation methods, Research, Crisis Intervention methods, Mental Disorders therapy, Mental Health Services, Peer Group, Residential Treatment methods, Respite Care methods
- Abstract
Peer respites are voluntary, short-term residential programs designed to support individuals experiencing or at risk of a psychiatric crisis. These programs posit that for many mental health services users, traditional psychiatric emergency department and inpatient hospital services are undesirable and avoidable when less coercive or intrusive community-based supports are available. Intended to provide a safe and homelike environment, peer respites are usually situated in residential neighborhoods. These programs are starting to spread across the United States, yet there is very little rigorous research on whether they are being implemented consistently across sites and which processes and outcomes may lead to benefits for persons experiencing psychiatric crises and for overburdened mental health systems. This Open Forum outlines implementation and research issues that peer respites face.
- Published
- 2015
- Full Text
- View/download PDF
41. Leadership and characteristics of nonprofit mental health peer-run organizations nationwide.
- Author
-
Ostrow L and Hayes SL
- Subjects
- Community Participation, Humans, Social Support, Consumer Organizations organization & administration, Leadership, Mental Disorders therapy, Mental Health Services organization & administration, Organizations, Nonprofit organization & administration, Peer Group
- Abstract
Objective: Mental health peer-run organizations are nonprofits providing venues for support and advocacy among people diagnosed as having mental disorders. It has been proposed that consumer involvement is essential to their operations. This study reported organizational characteristics of peer-run organizations nationwide and how these organizations differ by degree of consumer control., Methods: Data were from the 2012 National Survey of Peer-Run Organizations. The analyses described the characteristics of the organizations (N=380) on five domains of nonprofit research, comparing results for organizations grouped by degree of involvement by consumers in the board of directors., Results: Peer-run organizations provided a range of supports and educational and advocacy activities and varied in their capacity and resources. Some variation was explained by the degree of consumer control., Conclusions: These organizations seemed to be operating consistently with evidence on peer-run models. The reach of peer-run organizations, and the need for in-depth research, continues to grow.
- Published
- 2015
- Full Text
- View/download PDF
42. Stigma and difficulty accessing medical care in a sample of adults with serious mental illness.
- Author
-
Ostrow L, Manderscheid R, and Mojtabai R
- Subjects
- Adult, Educational Status, Female, Humans, Male, Mental Disorders psychology, Personal Autonomy, Power, Psychological, Health Services Accessibility, Mental Disorders therapy, Stereotyping
- Abstract
Introduction: Wellness of people with mental illness is increasingly a public health priority. This study examined factors associated with difficulties receiving medical care in adults with mental illness., Methods: In a sample of 1,670 adults with mental illness, we assessed difficulties in accessing medical care and stigma., Results: A total of 465 (28%) participants reported difficulties in accessing medical care; 211 (13%) attributed difficulties in access to stigma. Lack of comprehensive medical care coverage and mental health symptoms were associated with increased odds of perceived difficulties in accessing medical care; personal empowerment was negatively associated with perceived difficulties attributed to stigma; education was positively associated., Discussion: The findings highlight unmet need for medical care in this population and the need to recognize stigma as a barrier medical care. Interventions to empower patients and educate medical providers about wellness for people with serious mental illness could help to reduce barriers.
- Published
- 2014
- Full Text
- View/download PDF
43. Improving capacity to monitor and support sustainability of mental health peer-run organizations.
- Author
-
Ostrow L and Leaf PJ
- Subjects
- Humans, Mental Health Services legislation & jurisprudence, Mental Health Services standards, Self-Help Groups legislation & jurisprudence, Self-Help Groups standards, Social Support, Mental Health Services organization & administration, Peer Group, Program Evaluation methods, Self-Help Groups organization & administration
- Abstract
Peer-run mental health organizations are managed and staffed by people with lived experience of the mental health system. These understudied organizations are increasingly recognized as an important component of the behavioral health care and social support systems. This Open Forum describes the National Survey of Peer-Run Organizations, which was conducted in 2012 to gather information about peer-run organizations and programs, organizational operations, policy perspectives, and service systems. A total of 895 entities were identified and contacted as potential peer-run organizations. Information was obtained for 715 (80%) entities, and 380 of the 715 responding entities met the criteria for a peer-run organization. Implementation of the Affordable Care Act may entail benefits and unintended consequences for peer-run organizations. It is essential that we understand this population of organizations and continue to monitor changes associated with policies intended to provide better access to care that promotes wellness and recovery.
- Published
- 2014
- Full Text
- View/download PDF
44. ALS Untangled No. 20: the Deanna protocol.
- Author
-
Fournier C, Bedlack B, Hardiman O, Heiman-Patterson T, Gutmann L, Bromberg M, Ostrow L, Carter G, Kabashi E, Bertorini T, Mozaffar T, Andersen P, Dietz J, Gamez J, Dimachkie M, Wang Y, Wicks P, Heywood J, Novella S, Rowland LP, Pioro E, Kinsley L, Mitchell K, Glass J, Sathornsumetee S, Kwiecinski H, Baker J, Atassi N, Forshew D, Ravits J, Conwit R, Jackson C, Sherman A, Dalton K, Tindall K, Gonzalez G, Robertson J, Phillips L, Benatar M, Sorenson E, Shoesmith C, Nash S, Maragakis N, Moore D, Caress J, Boylan K, Armon C, Grosso M, Gerecke B, Wymer J, Oskarsson B, Bowser R, Drory V, Shefner J, Lechtzin N, Leitner M, Miller R, Mitsumoto H, Levine T, Russell J, Sharma K, Saperstein D, McClusky L, MacGowan D, Licht J, Verma A, Strong M, Lomen-Hoerth C, Tandan R, Rivner M, Kolb S, Polak M, Rudnicki S, Kittrell P, Quereshi M, Sachs G, Pattee G, Weiss M, Kissel J, Goldstein J, Rothstein J, Pastula D, Gleb L, Ogino M, Rosenfeld J, Carmi E, Oster C, Barkhaus P, and Valor E
- Subjects
- Amyotrophic Lateral Sclerosis diagnosis, Amyotrophic Lateral Sclerosis epidemiology, Animals, Coconut Oil, Humans, Nutrition Therapy methods, Amyotrophic Lateral Sclerosis diet therapy, Dietary Supplements, Plant Oils administration & dosage
- Published
- 2013
- Full Text
- View/download PDF
45. Recovery in the USA: from politics to peer support.
- Author
-
Ostrow L and Adams N
- Subjects
- Forecasting, Health Policy, Humans, Mental Disorders psychology, Mental Disorders rehabilitation, Peer Group, Politics, Social Support, United States, Mental Disorders therapy, Mental Health Services legislation & jurisprudence, Mental Health Services organization & administration, Mental Health Services trends
- Abstract
Efforts to transform the mental health service delivery system to a more consumer-driven and recovery-orientated approach has its roots in a somewhat radical anti-psychiatry and civil-rights movement dating back to the 1970s. This grass-roots effort gained momentum and credibility with Harding's landmark study published in 1988 followed by the work of Anthony et al. from Boston University in beginning to define the term 'recovery'. In 1998 the Office of the US Surgeon General issued its first report on mental health, and this critical view of the shortcomings of the existing service system set the stage for the 2003 President's New Freedom Commission and its recommendations for recovery-orientated systems transformation. The recovery movement has evolved from a more radical view in the early days, to participatory involvement in systems, to returning to alternative models of care that are more independent. Now as more peer specialists work in systems, there is an increased emphasis on non-medical alternatives and the cycle continues. Regardless, recovery, self-determination, choice, etc. are always at the centre. This paper notes the interesting cycles of recovery-orientation and how they spin around the values/tenets of the movement's early roots.
- Published
- 2012
- Full Text
- View/download PDF
46. Medicare mental health parity: a high potential change that is long overdue.
- Author
-
Ostrow L and Manderscheid R
- Subjects
- Health Expenditures, Humans, Medicare legislation & jurisprudence, Medicare statistics & numerical data, Mental Health Services legislation & jurisprudence, Mental Health Services statistics & numerical data, Prospective Payment System economics, Prospective Payment System legislation & jurisprudence, United States, Medicare economics, Mental Health Services economics
- Abstract
Recent changes in legislation regarding mental health parity in Medicare will revolutionize payment for mental health care and delivery systems. This commentary discusses why this policy change was essential to promote adequate care for populations served by Medicare and to address expected changes in beneficiary, provider, and plan behavior as more equitable payments by Medicare are implemented.
- Published
- 2010
- Full Text
- View/download PDF
47. Medicare and mental health parity.
- Author
-
Ostrow L and Manderscheid R
- Subjects
- Budgets trends, Delivery of Health Care, Integrated economics, Financing, Personal legislation & jurisprudence, Forecasting, Health Care Reform economics, Health Services Accessibility economics, Humans, Insurance Coverage legislation & jurisprudence, Medicare legislation & jurisprudence, Mental Health Services legislation & jurisprudence, United States, Financing, Personal economics, Insurance Coverage economics, Medicare economics, Mental Disorders economics, Mental Health Services economics, Substance-Related Disorders economics
- Published
- 2009
- Full Text
- View/download PDF
48. Distance education for graduate nursing: one state school's experience.
- Author
-
Ostrow L and DiMaria-Ghalili RA
- Subjects
- Adult, Attitude of Health Personnel, Computer Literacy, Computer User Training, Curriculum, Faculty, Nursing, Forecasting, Humans, Needs Assessment, Nursing Education Research, Psychology, Educational, Rural Population, Satellite Communications organization & administration, Social Support, Students, Nursing psychology, Telemedicine organization & administration, Training Support organization & administration, West Virginia, Computer-Assisted Instruction methods, Education, Distance organization & administration, Education, Nursing, Graduate organization & administration, Internet organization & administration
- Abstract
This article describes the authors experience in teaching graduate nursing courses to students in the rural state of West Virginia during the past 20 years. The strengths and weaknesses of each technological method are detailed, from both the instructor and student perspectives. The most recently implemented system (fall 2003), Webcasting, is also described. The support required within the institution, particularly from Instructional Design and Information Systems staff, and throughout the state is reviewed. The lessons learned from one school's long history with distance education are analyzed from the theoretical perspectives of adult learners and virtual students. We share our experiences with other nurse educators so they can devote more effort to the curricular aspects of their courses, rather than reinventing the technological wheel.
- Published
- 2005
- Full Text
- View/download PDF
49. Webcasting: a new instructional technology in distance graduate nursing education.
- Author
-
DiMaria-Ghalili RA, Ostrow L, and Rodney K
- Subjects
- Adult, Attitude of Health Personnel, Computer Literacy, Computer User Training methods, Computer-Assisted Instruction instrumentation, Curriculum, Educational Technology instrumentation, Equipment Design, Faculty, Nursing organization & administration, Humans, Internet instrumentation, Needs Assessment, Nursing Education Research, Program Development, Program Evaluation, Rural Population, Students, Nursing psychology, West Virginia, Computer-Assisted Instruction methods, Education, Distance organization & administration, Education, Nursing, Graduate organization & administration, Educational Technology organization & administration, Internet organization & administration
- Abstract
Webcasting is a new instructional technology used to deliver audio and video presentations via the Internet, enabling learners to participate in a live class via a personal computer. In this article, we describe the workflow involved in producing a Webcast class and provide a detailed account of the process of adopting Webcasting as a medium to provide distance education at a state university in a rural setting. This article addresses the team members required to seamlessly integrate Webcasting into the curriculum: information technology specialists, faculty, students, and administrators. We also identify problems encountered with implementation of Webcasting and methods used to resolve them.
- Published
- 2005
- Full Text
- View/download PDF
50. Stretch-induced endothelin-1 production by astrocytes.
- Author
-
Ostrow LW, Langan TJ, and Sachs F
- Subjects
- Animals, Calcium metabolism, Cells, Cultured, Humans, Inositol Phosphates metabolism, Rats, Stress, Mechanical, Astrocytes metabolism, Endothelin-1 biosynthesis
- Abstract
Astrocytes proliferate during central nervous system (CNS) development and then remain quiescent. However, at a site of brain injury, astrocytes re-enter the cell cycle and undergo complex biochemical/functional changes known as reactive gliosis. Gliosis is the most important histopathologic indicator of CNS injury, regardless of etiology. Endothelins (ETs) have powerful mitogenic effects on astrocytes and have recently been implicated in the induction of gliosis. Reactive astrocytes produce, store. secrete and bind endothelin-1 (ET-1). The stimuli responsible for activating ET production in astrocytes are unresolved. Because of the relationship between stretch and ET production in other cell types, and the observation that ET-1-positive reactive astrocytes appear in mechanically deformed regions, we are examining whether mechanical deformation affects ET-1 production. We expose mature rat astrocyte cultures to mechanical stress using flexible-bottomed culture plates. Mechanical stretch of quiescent, confluent cultures causes an increase in cytoplasmic Ca2+ and inositol trisphosphate (IP3), and a substantial increase in ET-1 production and secretion into the culture media.
- Published
- 2000
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.