Author: "Sapp, Peter C" - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Sapp, Peter C"' showing total 131 results

Start Over Author "Sapp, Peter C"

131 results on '"Sapp, Peter C"'

1. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Author: Dewan, Ramita, Chia, Ruth, Ding, Jinhui, Hickman, Richard A, Stein, Thor D, Abramzon, Yevgeniya, Ahmed, Sarah, Sabir, Marya S, Portley, Makayla K, Tucci, Arianna, Ibáñez, Kristina, Shankaracharya, FNU, Keagle, Pamela, Rossi, Giacomina, Caroppo, Paola, Tagliavini, Fabrizio, Waldo, Maria L, Johansson, Per M, Nilsson, Christer F, Rowe, James B, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Jabbari, Edwin, Viollet, Coralie, Glass, Jonathan D, Singleton, Andrew B, Silani, Vincenzo, Ross, Owen A, Ryten, Mina, Torkamani, Ali, Tanaka, Toshiko, Ferrucci, Luigi, Resnick, Susan M, Pickering-Brown, Stuart, Brady, Christopher B, Kowal, Neil, Hardy, John A, Van Deerlin, Vivianna, Vonsattel, Jean Paul, Harms, Matt, Morris, Christopher M, Ferrari, Raffaele, Landers, John E, Chiò, Adriano, Gibbs, Jesse Raphael, Dalgard, Clifton L, Scholz, Sonja W, Traynor, Bryan J, Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Hupalo, Daniel N, Martinez, Elisa McGrath, Pollard, Harvey B, Sukumar, Gauthaman, Soltis, Anthony R, Tuck, Meila, Zhang, Xijun, Wilkerson, Matthew D, Smith, Bradley N, Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D, Kost, Jason, Scotter, Emma L, Kenna, Kevin P, Miller, Jack W, Tiloca, Cinzia, Vance, Caroline, Danielson, Eric W, Troakes, Claire, Colombrita, Claudia, Al-Sarraj, Safa, Lewis, Elizabeth A, King, Andrew, Calini, Daniela, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, Asbroek, Anneloor LMA ten, Sapp, Peter C, McKenna-Yasek, Diane, McLaughlin, Russell L, Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P, Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, and van Rheenen, Wouter
Subjects: Genetics, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Clinical Research, Neurodegenerative, Acquired Cognitive Impairment, Dementia, Frontotemporal Dementia (FTD), Alzheimer's Disease Related Dementias (ADRD), ALS, Rare Diseases, Brain Disorders, Neurosciences, Huntington's Disease, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, DNA Repeat Expansion, Frontotemporal Dementia, Humans, Huntingtin Protein, Mutation, Whole Genome Sequencing, American Genome Center, FALS Sequencing Consortium, Genomics England Research Consortium, International ALS/FTD Genomics Consortium, International FTD Genetics Consortium, International LBD Genomics Consortium, NYGC ALS Consortium, PROSPECT Consortium, amyotrophic lateral sclerosis, frontotemporal dementia, huntingtin, repeat expansions, whole-genome sequencing, Psychology, Cognitive Sciences, Neurology & Neurosurgery
Abstract: We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.
Published: 2021

2. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author: Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, Georgios, Appel, Stanley H., Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard, Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Allen, Andrew S., Appel, Stanley, Bedlack, Richard S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Ticozzi, Nicola, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, D’Alfonso, Sandra, Corrado, Lucia, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Mazzini, Letizia, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Al Kheifat, Ahmad, Al-Chalabi, Ammar, Andersen, Peter, Basak, A. Nazli, Blair, Ian P., Chio, Adriano, Cooper-Knock, Jonathan, de Carvalho, Mamede, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hardiman, Orla, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Kooyman, Maarten, Landers, John, McLaughlin, Russell, Middelkoop, Bas, Mill, Jonathan, Neto, Miguel Mitne, Moisse, Mattieu, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shatunov, Aleksey, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van der Spek, Rick, van Eijk, Kristel, van Es, Michael, van Rheenen, Wouter, van Vugt, Joke, Veldink, Jan, Weber, Markus, Williams, Kelly L., Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., Van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Messina, Sonia, Simone, Isabella L., Ferrucci, Luigi, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Wyman, Stacia K., LeNail, Alex, Van Eyk, Jennifer E., Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L.M.A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Van Eijk, Kristel R., Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Fifita, Jennifer A., Nicholson, Garth A., Esteban-Pérez, Jesús, García-Redondo, Alberto, Rogaeva, Ekaterina, Zinman, Lorne, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Van Damme, Philip, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., Jr., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.
Published: 2018
Full Text: View/download PDF

3. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Author: FALS Sequencing Consortium, Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J. M. B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., and Goldstein, David B.
Published: 2015

4. Reduced Expression of the Kinesin-Associated Protein 3 (KIFAP3) Gene Increases Survival in Sporadic Amyotrophic Lateral Sclerosis

Author: Landers, John E., Melki, Judith, Meininger, Vincent, Glass, Jonathan D., van den Berg, Leonard H., van Es, Michael A., Sapp, Peter C., van Vught, Paul W. J., McKenna-Yasek, Diane M., Blauw, Hylke M., Cho, Ting-Jan, Polak, Meraida, Shi, Lijia, Wills, Anne-Marie, Broom, Wendy J., Ticozzi, Nicola, Silani, Vincenzo, Ozoguz, Aslihan, Rodriguez-Leyva, Ildefonso, Veldink, Jan H., Ivinson, Adrian J., Saris, Christiaan G. J., Hosier, Betsy A., Bames-Nessa, Alayna, Couture, Nicole, Wokke, John H. J., Kwiatkowski,, Thomas J., Ophoff, Roel A., Cronin, Simon, Hardiman, Orla, Diekstra, Frank P., Leigh, P. Nigel, Shaw, Christopher E., Simpson, Claire L., Hansen, Valerie K., Powell, John F., Corcia, Philippe, Salachas, François, Heath, Simon, Galan, Pilar, Georges, Franck, Horvitz, H. Robert, Lathrop, Mark, Purcell, Shaun, Al-Chalabi, Ammar, Brown,, Robert H., and Housman, David E.
Published: 2009
Full Text: View/download PDF

5. ALS GENES: Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Author: Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, Vianney de Jong, J. M. B., Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Sequencing Consortium, FALS, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Wade Harper, J., Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., and Goldstein, David B.
Published: 2015

6. Putative founder effect in the Polish, Iranian and United States populations for the L144SSOD1mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis

Author: Kuzma-Kozakiewicz, Magdalena, Andersen, Peter M., Elahi, Elahe, Alavi, Afagh, Sapp, Peter C., Morita, Mitsuya, Zekanowski, Cezary, Berdynski, Mariusz, Kuzma-Kozakiewicz, Magdalena, Andersen, Peter M., Elahi, Elahe, Alavi, Afagh, Sapp, Peter C., Morita, Mitsuya, Zekanowski, Cezary, and Berdynski, Mariusz
Abstract: Mutations inSOD1cause approximately 12-25% of familial ALS and approximate to 2% of apparently sporadic ALS cases. Clinical phenotypes linked to SOD1 mutations are heterogeneous and intra-familial variability of the clinical phenotype is frequently observed. SOD1 L144S mutation, identified also in Brazil, Iran and United States, is the second most frequent mutation among ALS patients in Poland. So far, 10 FALS pedigrees with SOD1 L144S mutation have been reported worldwide. The aim of the study was to establish the origin of SOD1 L144S mutation in geographically distinct populations. The clinical presentation of the Polish patients was compared with those from the previously reported populations (26 ever-reported patients). Clinically, L144S mutation is associated with both sporadic and familial ALS of relatively slow uniform course, a prevalent onset in the lower limbs, either classic or PMA presentation and a long survival time. Like in the case of other previously described SOD1 mutations, there was an intra-familial heterogeneity and reduced penetrance for ALS was observed. We propose that the L144S SOD1 mutation in the three studied populations has a common founder most likely of Polish origin.
Published: 2021
Full Text: View/download PDF

7. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Author: Wu, Chi-Hong, Fallini, Claudia, Ticozzi, Nicola, Keagle, Pamela J., Sapp, Peter C., Piotrowska, Katarzyna, Lowe, Patrick, Koppers, Max, McKenna-Yasek, Diane, Baron, Desiree M., Kost, Jason E., Gonzalez-Perez, Paloma, Fox, Andrew D., Adams, Jenni, Taroni, Franco, Tiloca, Cinzia, Leclerc, Ashley Lyn, Chafe, Shawn C., Mangroo, Dev, Moore, Melissa J., Zitzewitz, Jill A., Xu, Zuo-Shang, van den Berg, Leonard H., Glass, Jonathan D., Siciliano, Gabriele, Cirulli, Elizabeth T., Goldstein, David B., Salachas, Francois, Meininger, Vincent, Rossoll, Wilfried, Ratti, Antonia, Gellera, Cinzia, Bosco, Daryl A., Bassell, Gary J., Silani, Vincenzo, Drory, Vivian E., Brown Jr, Robert H., and Landers, John E.
Published: 2012
Full Text: View/download PDF

8. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS

Author: Chow, Clement Y., Landers, John E., Bergren, Sarah K., Sapp, Peter C., Grant, Andrienne E., Jones, Julie M., Everett, Lesley, Lenk, Guy M., McKenna-Yasek, Diane M., Weisman, Lois S., Figlewicz, Denise, Brown, Robert H., and Meisler, Miriam H.
Subjects: Amyotrophic lateral sclerosis -- Genetic aspects, Amyotrophic lateral sclerosis -- Risk factors, Gene mutations -- Research, Phosphatases -- Research, Polymerase chain reaction -- Usage, Biological sciences
Abstract: The nonsynonymous variants of lipid phosphatase (FIG4) in patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) is described. Heterozygosity for a deleterious allele FIG 4 that regulates PI(3,5)[P.sub.2] is found to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases.
Published: 2009

9. The distinct genetic pattern of ALS in Turkey and novel mutations

Author: Özoğuz, Aslıhan, Uyan, Özgün, Birdal, Güneş, Iskender, Ceren, Kartal, Ece, Lahut, Suna, Ömür, Özgür, Agim, Zeynep Sena, Eken, Aslı Gündoğdu, Sen, Nesli Ece, Kavak, Pınar, Saygı, Ceren, Sapp, Peter C., Keagle, Pamela, Parman, Yeşim, Tan, Ersin, Koç, Filiz, Deymeer, Feza, Oflazer, Piraye, Hanağası, Haşmet, Gürvit, Hakan, Bilgiç, Başar, Durmuş, Hacer, Ertaş, Mustafa, Kotan, Dilcan, Akalın, Mehmet Ali, Güllüoğlu, Halil, Zarifoğlu, Mehmet, Aysal, Fikret, Döşoğlu, Nilgün, Bilguvar, Kaya, Günel, Murat, Keskin, Özlem, Akgün, Tahsin, Özçelik, Hilmi, Landers, John E., Brown, Robert H., and Başak, A. Nazlı
Published: 2015
Full Text: View/download PDF

10. Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis

Author: Kuzma-Kozakiewicz, Magdalena, Andersen, Peter M., Elahi, Elahe, Alavi, Afagh, Sapp, Peter C., Morita, Mitsuya, Zekanowski, Cezary, and Berdynski, Mariusz
Subjects: nutritional and metabolic diseases
Abstract: Mutations inSOD1cause approximately 12-25% of familial ALS and approximate to 2% of apparently sporadic ALS cases. Clinical phenotypes linked to SOD1 mutations are heterogeneous and intra-familial variability of the clinical phenotype is frequently observed. SOD1 L144S mutation, identified also in Brazil, Iran and United States, is the second most frequent mutation among ALS patients in Poland. So far, 10 FALS pedigrees with SOD1 L144S mutation have been reported worldwide. The aim of the study was to establish the origin of SOD1 L144S mutation in geographically distinct populations. The clinical presentation of the Polish patients was compared with those from the previously reported populations (26 ever-reported patients). Clinically, L144S mutation is associated with both sporadic and familial ALS of relatively slow uniform course, a prevalent onset in the lower limbs, either classic or PMA presentation and a long survival time. Like in the case of other previously described SOD1 mutations, there was an intra-familial heterogeneity and reduced penetrance for ALS was observed. We propose that the L144S SOD1 mutation in the three studied populations has a common founder most likely of Polish origin.
Published: 2020
Full Text: View/download PDF

11. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. (Report)

Author: Sapp, Peter C., Hosler, Betsy A., McKenna-Yasek, Diane, Chin, Wendy, Gann, Amity, Genise, Hilary, Gorenstein, Julie, Huang, Michael, Sailer, Wen, Scheffler, Meg, Valesky, Marianne, Haines, Jonathan L., Pericak-Vance, Margaret, Siddique, Teepu, Horvits, H. Robert, and Brown, Robert H., Jr.
Subjects: Amyotrophic lateral sclerosis -- Research, Biological sciences
Published: 2003

12. Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis

Author: Kuźma-Kozakiewicz, Magdalena, primary, Andersen, Peter M., additional, Elahi, Elahe, additional, Alavi, Afagh, additional, Sapp, Peter C., additional, Morita, Mitsuya, additional, Żekanowski, Cezary, additional, and Berdyński, Mariusz, additional
Published: 2020
Full Text: View/download PDF

13. Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33

Author: Hosler, Betsy A., Sapp, Peter C., Berger, Ralph, O'Neill, Gilmore, Bejaoui, Khemissa, Hamida, Mongi Ben, Hentati, Faycal, Chin, Wendy, McKenna-Yasek, Diane, Haines, Jonathan L., Patterson, David, Horvitz, H. Robert, Brown Jr., R. H., and Day, C. B.
Published: 1998
Full Text: View/download PDF

14. A large genome scan for rare CNVs in amyotrophic lateral sclerosis

Author: Blauw, Hylke M., Al-Chalabi, Ammar, Andersen, Peter M., van Vught, Paul W.J., Diekstra, Frank P., van Es, Michael A., Saris, Christiaan G.J., Groen, Ewout J.N., van Rheenen, Wouter, Koppers, Max, vanʼt Slot, Ruben, Strengman, Eric, Estrada, Karol, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, Andre G., Kiemeney, Lambertus A., Vermeulen, Sita H.M., Birve, Anna, Waibel, Stefan, Meyer, Thomas, Cronin, Simon, McLaughlin, Russell L., Hardiman, Orla, Sapp, Peter C., Tobin, Martin D., Wain, Louise V., Tomik, Barbara, Slowik, Agnieszka, Lemmens, Robin, Rujescu, Dan, Schulte, Claudia, Gasser, Thomas, Brown, Robert H., Jr, Landers, John E., Robberecht, Wim, Ludolph, Albert C., Ophoff, Roel A., Veldink, Jan H., and van den Berg, Leonard H.
Published: 2010
Full Text: View/download PDF

15. Linkage of Familial Amyotrophic Lateral Sclerosis With Frontotemporal Dementia to Chromosome 9q21-q22

Author: Hosler, Betsy A., Siddique, Teepu, Sapp, Peter C., Sailor, Wen, Huang, Michael C., Hossain, Anwar, Daube, Jasper R., Nance, Martha, Fan, Chaohong, Kaplan, Jocelyn, Hung, Wu-Yen, McKenna-Yasek, Diane, Haines, Jonathan L., Pericak-Vance, Margaret A., Horvitz, H. Robert, and Brown, Robert H., Jr
Published: 2000

16. Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

Author: Massachusetts Institute of Technology. Department of Biology, McGovern Institute for Brain Research at MIT, Sapp, Peter C, Horvitz, Howard Robert, Peters, Owen M., Cabrera, Gabriela Toro, Tran, Helene, Gendron, Tania F., McKeon, Jeanne E., Metterville, Jake, Weiss, Alexandra, Wightman, Nicholas, Salameh, Johnny, Kim, Juhyun, Sun, Huaming, Boylan, Kevin B., Dickson, Dennis, Kennedy, Zachary, Lin, Ziqiang, Zhang, Yong-Jie, Daughrity, Lillian, Jung, Chris, Gao, Fen-Biao, Bosco, Daryl A., Brown, Solange P., de Jong, Pieter, Petrucelli, Leonard, Mueller, Christian, Brown, Robert H., Sapp, Peter C., Massachusetts Institute of Technology. Department of Biology, McGovern Institute for Brain Research at MIT, Sapp, Peter C, Horvitz, Howard Robert, Peters, Owen M., Cabrera, Gabriela Toro, Tran, Helene, Gendron, Tania F., McKeon, Jeanne E., Metterville, Jake, Weiss, Alexandra, Wightman, Nicholas, Salameh, Johnny, Kim, Juhyun, Sun, Huaming, Boylan, Kevin B., Dickson, Dennis, Kennedy, Zachary, Lin, Ziqiang, Zhang, Yong-Jie, Daughrity, Lillian, Jung, Chris, Gao, Fen-Biao, Bosco, Daryl A., Brown, Solange P., de Jong, Pieter, Petrucelli, Leonard, Mueller, Christian, Brown, Robert H., and Sapp, Peter C.
Abstract: A non-coding hexanucleotide repeat expansion in the C9ORF72 gene is the most common mutation associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). To investigate the pathological role of C9ORF72 in these diseases, we generated a line of mice carrying a bacterial artificial chromosome containing exons 1 to 6 of the human C9ORF72 gene with approximately 500 repeats of the GGGGCC motif. The mice showed no overt behavioral phenotype but recapitulated distinctive histopathological features of C9ORF72 ALS/FTD, including sense and antisense intranuclear RNA foci and poly(glycine-proline) dipeptide repeat proteins. Finally, using an artificial microRNA that targets human C9ORF72 in cultures of primary cortical neurons from the C9BAC mice, we have attenuated expression of the C9BAC transgene and the poly(GP) dipeptides. The C9ORF72 BAC transgenic mice will be a valuable tool in the study of ALS/FTD pathobiology and therapy., National Institutes of Health (U.S.) (NIH/NINDS R01NS088689), Howard Hughes Medical Institute (Investigator), National Institute of Environmental Health Sciences (NIEHS R01ES20395), ALS Therapy Alliance (Grant OD018259), National Research Foundation of Korea (Fellowship), United States. Department of Defense (ALSRP AL130125)
Published: 2016

17. Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis.

Author: Kuźma-Kozakiewicz, Magdalena, Andersen, Peter M., Elahi, Elahe, Alavi, Afagh, Sapp, Peter C., Morita, Mitsuya, Żekanowski, Cezary, and Berdyński, Mariusz
Subjects: AMYOTROPHIC lateral sclerosis, PHENOTYPES, PHENOTYPIC plasticity, IRANIANS, SURVIVAL analysis (Biometry)
Abstract: Mutations in SOD1 cause approximately 12–25% of familial ALS and ≈2% of apparently sporadic ALS cases. Clinical phenotypes linked to SOD1 mutations are heterogeneous and intra-familial variability of the clinical phenotype is frequently observed. SOD1 L144S mutation, identified also in Brazil, Iran and United States, is the second most frequent mutation among ALS patients in Poland. So far, 10 FALS pedigrees with SOD1 L144S mutation have been reported worldwide. The aim of the study was to establish the origin of SOD1 L144S mutation in geographically distinct populations. The clinical presentation of the Polish patients was compared with those from the previously reported populations (26 ever-reported patients). Clinically, L144S mutation is associated with both sporadic and familial ALS of relatively slow uniform course, a prevalent onset in the lower limbs, either classic or PMA presentation and a long survival time. Like in the case of other previously described SOD1 mutations, there was an intra-familial heterogeneity and reduced penetrance for ALS was observed. We propose that the L144S SOD1 mutation in the three studied populations has a common founder most likely of Polish origin. [ABSTRACT FROM AUTHOR]
Published: 2021
Full Text: View/download PDF

18. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author: 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, 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, Moreno, Cristiane de Araujo Martins, 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., Soraru, 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., Luis Munoz-Blanco, Jose, 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, James, 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, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E., Basak, A. Nazli, Mora, Jesus 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-Perez, Jesus, Garcia-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W., Maragakis, Nicholas J., Rothstein, Jeffrey D., Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexis, 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., Jr., van den Berg, Leonard H., Veldink, Jan H., Harms, Matthew B., Glass, Jonathan D., Stone, David J., Tienari, Pentti, Silani, Vincenzo, Chio, Adriano, Shaw, Christopher E., Traynor, Bryan J., Landers, John E., 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, 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, Moreno, Cristiane de Araujo Martins, 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., Soraru, 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., Luis Munoz-Blanco, Jose, 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, James, 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, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E., Basak, A. Nazli, Mora, Jesus 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-Perez, Jesus, Garcia-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W., Maragakis, Nicholas J., Rothstein, Jeffrey D., Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexis, 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., Jr., van den Berg, Leonard H., Veldink, Jan H., Harms, Matthew B., Glass, Jonathan D., Stone, David J., Tienari, Pentti, Silani, Vincenzo, Chio, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.
Abstract: 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
Full Text: View/download PDF

19. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author: 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, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. M. A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Mattieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, 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., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Al Kheifat, Ahmad, Andersen, Peter, Chio, Adriano, Cooper-Knock, Jonathan, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Landers, John, McLaughlin, Russell, Mill, Jonathan, Neto, Miguel Mitne, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van Eijk, Kristel, van Es, Michael, van Vugt, Joke, Veldink, Jan, Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Rogaeva, Ekaterina, Zinman, Lorne, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., Landers, John E., 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, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. M. A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Mattieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, 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., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Al Kheifat, Ahmad, Andersen, Peter, Chio, Adriano, Cooper-Knock, Jonathan, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Landers, John, McLaughlin, Russell, Mill, Jonathan, Neto, Miguel Mitne, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van Eijk, Kristel, van Es, Michael, van Vugt, Joke, Veldink, Jan, Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Rogaeva, Ekaterina, Zinman, Lorne, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.
Abstract: 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. Using a large-scale genome-wide association study and exome sequencing, we identified KIF5A as a novel gene associated with ALS. Our data broaden the phenotype resulting from mutations in KIF5A and highlight the importance of cytoskeletal defects in the pathogenesis of ALS.
Published: 2018

20. Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

Author: Nicolas, Aude, primary, Kenna, Kevin P., additional, Renton, Alan E., additional, Ticozzi, Nicola, additional, Faghri, Faraz, additional, Chia, Ruth, additional, Dominov, Janice A., additional, Kenna, Brendan J., additional, Nalls, Mike A., additional, Keagle, Pamela, additional, Rivera, Alberto M., additional, Rheenen, Wouter van, additional, Murphy, Natalie A., additional, Vugt, Joke J.F.A. van, additional, Geiger, Joshua T., additional, Van der Spek, Rick A., additional, Pliner, Hannah A., additional, Smith, Bradley N., additional, Marangi, Giuseppe, additional, Topp, Simon D., additional, Abramzon, Yevgeniya, additional, Gkazi, Athina Soragia, additional, Eicher, John D., additional, Kenna, Aoife, additional, Consortium, ITALSGEN, additional, Mora, Gabriele, additional, Calvo, Andrea, additional, Mazzini, Letizia, additional, Riva, Nilo, additional, Mandrioli, Jessica, additional, Caponnetto, Claudia, additional, Battistini, Stefania, additional, Volanti, Paolo, additional, Bella, Vincenzo La, additional, Conforti, Francesca L., additional, Borghero, Giuseppe, additional, Messina, Sonia, additional, Simone, Isabella L., additional, Trojsi, Francesca, additional, Salvi, Fabrizio, additional, Logullo, Francesco O., additional, D’Alfonso, Sandra, additional, Corrado, Lucia, additional, Capasso, Margherita, additional, Ferrucci, Luigi, additional, (GTAC) Consortium, Genomic Translation for ALS Care, additional, Martins Moreno, Cristiane de Araujo, additional, Kamalakaran, Sitharthan, additional, Goldstein, David B., additional, Consortium, The ALS Sequencing, additional, Gitler, Aaron D., additional, Harris, Tim, additional, Myers, Richard M., additional, Consortium, NYGC ALS, additional, Phatnani, Hemali, additional, Musunuri, Rajeeva Lochan, additional, Evani, Uday Shankar, additional, Abhyankar, Avinash, additional, Zody, Michael Charles, additional, Foundation, Answer ALS, additional, Kaye, Julia, additional, Finkbeiner, Steven, additional, Wyman, Stacia, additional, Lenail, Alex, additional, Lima, Leandro, additional, Fraenkel, Ernest, additional, Svendsen, Clive N., additional, Thompson, Leslie M., additional, Van Eyk, Jennifer E., additional, Berry, James D., additional, Miller, Timothy M., additional, Kolb, Stephen J., additional, Cudkowicz, Merit, additional, Baxi, Emily, additional, Development (CReATe) Consortium, Clinical Research in ALS and Relate, additional, Benatar, Michael, additional, Taylor, J. Paul, additional, Rampersaud, Evadnie, additional, Wu, Gang, additional, Wuu, Joanne, additional, Consortium, SLAGEN, additional, Lauria, Giuseppe, additional, Verde, Federico, additional, Fogh, Isabella, additional, Tiloca, Cinzia, additional, Comi, Giacomo P., additional, Sorarù, Gianni, additional, Cereda, Cristina, additional, Consortium, French ALS, additional, Corcia, Philippe, additional, Laaksovirta, Hannu, additional, Myllykangas, Liisa, additional, Jansson, Lilja, additional, Valori, Miko, additional, Ealing, John, additional, Hamdallah, Hesham, additional, Rollinson, Sara, additional, Pickering-Brown, Stuart, additional, Orrell, Richard W., additional, Sidle, Katie C., additional, Malaspina, Andrea, additional, Hardy, John, additional, Singleton, Andrew B., additional, Johnson, Janel O., additional, Arepalli, Sampath, additional, Sapp, Peter C., additional, McKenna-Yasek, Diane, additional, Polak, Meraida, additional, Asress, Seneshaw, additional, Al-Sarraj, Safa, additional, King, Andrew, additional, Troakes, Claire, additional, Vance, Caroline, additional, Belleroche, Jacqueline de, additional, Baas, Frank, additional, Asbroek, Anneloor LMA ten, additional, Muñoz-Blanco, José Luis, additional, Hernandez, Dena G., additional, Ding, Jinhui, additional, Gibbs, J. Raphael, additional, Scholz, Sonja W., additional, Floeter, Mary Kay, additional, Campbell, Roy H., additional, Landi, Francesco, additional, Pulst, Stefan M., additional, Ravits, John M., additional, MacGowan, Daniel J. L., additional, Kirby, Janine, additional, Pioro, Erik, additional, Pamphlett, Roger, additional, Broach, James, additional, Gerhard, Glenn, additional, Dunckley, Travis L., additional, Brady, Christopher B., additional, Kowall, Neil W., additional, Troncoso, Juan C., additional, Le Ber, Isabelle, additional, Mouzat, Kevin, additional, Lumbroso, Serge, additional, Heiman-Patterson, Terry D., additional, Kamel, Freya, additional, Bosch, Ludo Van Den, additional, Baloh, Robert H., additional, Strom, Tim M., additional, Meitinger, Thomas, additional, Shatunov, Aleksey, additional, Van Eijk, Kristel R., additional, de Carvalho, Mamede, additional, Kooyman, Maarten, additional, Middelkoop, Bas, additional, Moisse, Matthieu, additional, McLaughlin, Russell L., additional, Van Es, Michael A., additional, Weber, Markus, additional, Boylan, Kevin B., additional, Van Blitterswijk, Marka, additional, Rademakers, Rosa, additional, Morrison, Karen E., additional, Basak, A. Nazli, additional, Mora, Jesús S., additional, Drory, Vivian E., additional, Shaw, Pamela J., additional, Turner, Martin R., additional, Talbot, Kevin, additional, Hardiman, Orla, additional, Williams, Kelly L., additional, Fifita, Jennifer A., additional, Nicholson, Garth A., additional, Blair, Ian P., additional, Rouleau, Guy A., additional, Esteban-Pérez, Jesús, additional, García-Redondo, Alberto, additional, Al-Chalabi, Ammar, additional, Rogaeva, Ekaterina, additional, Zinman, Lorne, additional, Ostrow, Lyle, additional, Maragakis, Nicholas J., additional, Rothstein, Jeffrey D., additional, Simmons, Zachary, additional, Cooper-Knock, Johnathan, additional, Brice, Alexis, additional, Goutman, Stephen A., additional, Feldman, Eva L., additional, Gibson, Summer B., additional, Taroni, Franco, additional, Ratti, Antonia, additional, Gellera, Cinzia, additional, Van Damme, Philip, additional, Robberecht, Wim, additional, Fratta, Pietro, additional, Sabatelli, Mario, additional, Lunetta, Christian, additional, Ludolph, Albert C., additional, Andersen, Peter M., additional, Weishaupt, Jochen H., additional, Camu, William, additional, Trojanowski, John Q., additional, Van Deerlin, Vivianna M., additional, Brown, Robert H., additional, van den Berg, Leonard H., additional, Veldink, Jan H., additional, Harms, Matthew B., additional, Glass, Jonathan D., additional, Stone, David J., additional, Tienari, Pentti, additional, Silani, Vincenzo, additional, Chiò, Adriano, additional, Shaw, Christopher E., additional, Traynor, Bryan J., additional, and Landers, John E., additional
Published: 2018
Full Text: View/download PDF

21. Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden

Author: Czell, David, Sapp, Peter C., Neuwirth, Christoph, Weber, Markus, Andersen, Peter M., Brown, Robert H., Czell, David, Sapp, Peter C., Neuwirth, Christoph, Weber, Markus, Andersen, Peter M., and Brown, Robert H.
Abstract: A series of studies suggests that susceptibility to ALS may be influenced by variants in multiple genes. While analyses of the 10% of cases of familial origin have identified more than 33 monogenic ALS-causing genetic defects, little is known about genetic factors that influence susceptibility or phenotype in sporadic ALS (SALS). We and others conducted a genome-wide association study (GWAS) in a cohort of 1014 ALS cases from Western Europe, England and the United States, and identified an intronic single nucleotide polymorphism (SNP) rs1541160 in the KIFAP3 gene that was statistically associated with improved survival. We have now completed an additional survival analysis examining the impact of the rs1541160 genotype in a cohort of 264 ALS and progressive bulbar palsy (PBP) cases. In the combined cohort of 264 patients, the CC, CT and TT genotypes for rs1541160 were detected, respectively, in 8.3% (22), 41.7% (110) and 50.0% (132). This study does not show an influence of KIFAP3 variants on survival in the studied Swiss and Swedish cohort. There was a difference in survival between the US and English patients and the patients from the Netherlands. The effect of KIFAP3 variants may be population specific, or the rs1541160 association reported previously may have been a false-positive.
Published: 2017
Full Text: View/download PDF

22. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Author: Kenna, Kevin P, van Doormaal, Perry T C, Dekker, Annelot M, Ticozzi, Nicola, Kenna, Brendan J, Diekstra, Frank P, van Rheenen, Wouter, van Eijk, Kristel R, Jones, Ashley R, Keagle, Pamela, Shatunov, Aleksey, Sproviero, William, Smith, Bradley N, van Es, Michael A, Topp, Simon D, Kenna, Aoife, Miller, Jack W, Fallini, Claudia, Tiloca, Cinzia, McLaughlin, Russell L, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, Mora, Gabriele, Calvo, Andrea, Verde, Federico, Al-Sarraj, Safa, King, Andrew, Calini, Daniela, de Belleroche, Jacqueline, Baas, Frank, van der Kooi, Anneke J, de Visser, Marianne, Ten Asbroek, Anneloor L M A, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Muñoz-Blanco, José Luis, Strom, Tim M, Meitinger, Thomas, Morrison, Karen E, Lauria, Giuseppe, Williams, Kelly L, Leigh, P Nigel, Nicholson, Garth A, Blair, Ian P, Leblond, Claire S, van den Berg, Leonard H, Veldink, Jan H, and SLAGEN Consortium
Subjects: Journal Article, Comparative Study
Abstract: To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology.
Published: 2016

23. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Author: Smith, Bradley N., primary, Topp, Simon D., additional, Fallini, Claudia, additional, Shibata, Hideki, additional, Chen, Han-Jou, additional, Troakes, Claire, additional, King, Andrew, additional, Ticozzi, Nicola, additional, Kenna, Kevin P., additional, Soragia-Gkazi, Athina, additional, Miller, Jack W., additional, Sato, Akane, additional, Dias, Diana Marques, additional, Jeon, Maryangel, additional, Vance, Caroline, additional, Wong, Chun Hao, additional, de Majo, Martina, additional, Kattuah, Wejdan, additional, Mitchell, Jacqueline C., additional, Scotter, Emma L., additional, Parkin, Nicholas W., additional, Sapp, Peter C., additional, Nolan, Matthew, additional, Nestor, Peter J., additional, Simpson, Michael, additional, Weale, Michael, additional, Lek, Monkel, additional, Baas, Frank, additional, Vianney de Jong, J. M., additional, ten Asbroek, Anneloor L. M. A., additional, Redondo, Alberto Garcia, additional, Esteban-Pérez, Jesús, additional, Tiloca, Cinzia, additional, Verde, Federico, additional, Duga, Stefano, additional, Leigh, Nigel, additional, Pall, Hardev, additional, Morrison, Karen E., additional, Al-Chalabi, Ammar, additional, Shaw, Pamela J., additional, Kirby, Janine, additional, Turner, Martin R., additional, Talbot, Kevin, additional, Hardiman, Orla, additional, Glass, Jonathan D., additional, De Belleroche, Jacqueline, additional, Maki, Masatoshi, additional, Moss, Stephen E., additional, Miller, Christopher, additional, Gellera, Cinzia, additional, Ratti, Antonia, additional, Al-Sarraj, Safa, additional, Brown, Robert H., additional, Silani, Vincenzo, additional, Landers, John E., additional, and Shaw, Christopher E., additional
Published: 2017
Full Text: View/download PDF

24. Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden

Author: Czell, David, primary, Sapp, Peter C., additional, Neuwirth, Christoph, additional, Weber, Markus, additional, Andersen, Peter M., additional, and Brown, Robert H., additional
Published: 2017
Full Text: View/download PDF

25. The Distinct Genetic Pattern Of Als In Turkey And Novel Mutations

Author: Ozoguz, Aslihan, Uyan, Ozgun, Birdal, Gunes, Iskender, Ceren, Kartal, Ece, Lahut, Suna, Omur, Ozgur, Agim, Zeynep Sena, Eken, Asli Gundogdu, Sen, Nesli Ece, Kavak, Pinar, Saygi, Ceren, Sapp, Peter C., Keagle, Pamela, Parman, Yesim, Tan, Ersin, Koc, Filiz, Deymeer, Feza, Oflazer, Piraye, and Hanagasi, Hasmet
Abstract: The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey. No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.1%) and UBQLN2 (0.6%) explained 3.7% of sALS in the population. Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel. The spectrum of mutations reflect both the distinct genetic background and the heterogeneous nature of the Turkish ALS population. (C) 2015 Elsevier Inc. All rights reserved.
Published: 2015

26. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Author: Kenna, Kevin P., van Doormaal, Perry T. C., Dekker, Annelot M., Ticozzi, Nicola, Kenna, Brendan J., Diekstra, Frank P., van Rheenen, Wouter, van Eijk, Kristel R., Jones, Ashley R., Keaglel, Pamela, Shatunov, Aleksey, Sproviero, William, Smiths, Bradley N., van Es, Michael A., Topps, Simon D., Kenna, Aoife, Miller, Jack W., Fallini, Claudia, Tiloca, Cinzia, McLaughlin, Russell L., Vance, Caroline, Troakes, Claire, Colombrita, Claudia, Mora, Gabriele, Calvo, Andrea, Verde, Federico, Al-Sarraj, Safa, King, Andrew, Calini, Daniela, de Belleroche, Jacqueline, Baas, Frank, van der Kooi, Anneke J., de Visser, Marianne, ten Asbroek, Anneloor L. M. A., Sapp, Peter C., McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Luis Munoz-Blanco, Jose, Strom, Tim M., Meitinger, Thomas, Morrison, Karen E., Lauria, Giuseppe, Williams, Kelly L., Leigh, P. Nigel, Nicholson, Garth A., Blair, Ian P., Leblond, Claire S., Dion, Patrick A., Rouleau, Guy A., Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, Boylan, Kevin B., Van Blitterswijk, Marka, Rademakers, Rosa, Esteban-Perez, Jesus, Garcia-Redondo, Alberto, Van Damme, Phillip, Robberecht, Wim, Chio, Adrian, Gellera, Cinzia, Drepper, Carsten, Sendtner, Michael, Ratti, Antonia, Glass, Jonathan D., Mora, Jesus S., Basak, Nazli A., Hardiman, Orla, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Brown, Robert H., Jr., Al-Chalabi, Ammar, Silani, Vincenzo, Shaw, Christopher E., van den Berg, Leonard H., Veldink, Jan H., Landers, John E., D'Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Soraru, Gianni, Kenna, Kevin P., van Doormaal, Perry T. C., Dekker, Annelot M., Ticozzi, Nicola, Kenna, Brendan J., Diekstra, Frank P., van Rheenen, Wouter, van Eijk, Kristel R., Jones, Ashley R., Keaglel, Pamela, Shatunov, Aleksey, Sproviero, William, Smiths, Bradley N., van Es, Michael A., Topps, Simon D., Kenna, Aoife, Miller, Jack W., Fallini, Claudia, Tiloca, Cinzia, McLaughlin, Russell L., Vance, Caroline, Troakes, Claire, Colombrita, Claudia, Mora, Gabriele, Calvo, Andrea, Verde, Federico, Al-Sarraj, Safa, King, Andrew, Calini, Daniela, de Belleroche, Jacqueline, Baas, Frank, van der Kooi, Anneke J., de Visser, Marianne, ten Asbroek, Anneloor L. M. A., Sapp, Peter C., McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Luis Munoz-Blanco, Jose, Strom, Tim M., Meitinger, Thomas, Morrison, Karen E., Lauria, Giuseppe, Williams, Kelly L., Leigh, P. Nigel, Nicholson, Garth A., Blair, Ian P., Leblond, Claire S., Dion, Patrick A., Rouleau, Guy A., Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, Boylan, Kevin B., Van Blitterswijk, Marka, Rademakers, Rosa, Esteban-Perez, Jesus, Garcia-Redondo, Alberto, Van Damme, Phillip, Robberecht, Wim, Chio, Adrian, Gellera, Cinzia, Drepper, Carsten, Sendtner, Michael, Ratti, Antonia, Glass, Jonathan D., Mora, Jesus S., Basak, Nazli A., Hardiman, Orla, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Brown, Robert H., Jr., Al-Chalabi, Ammar, Silani, Vincenzo, Shaw, Christopher E., van den Berg, Leonard H., Veldink, Jan H., Landers, John E., D'Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, and Soraru, Gianni
Abstract: To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261 His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261 His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology.
Published: 2016
Full Text: View/download PDF

27. Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

Author: Massachusetts Institute of Technology. Department of Biology, Sapp, Peter C., Chow, Clement Y., Landers, John E., Bergren, Sarah K., Grant, Adrienne E., Jones, Julie M., Everett, Lesley, Lenk, Guy M., McKenna-Yasek, Diane M., Weisman, Lois S., Figlewicz, Denise, Brown, Robert H., Meisler, Miriam H., Massachusetts Institute of Technology. Department of Biology, Sapp, Peter C., Chow, Clement Y., Landers, John E., Bergren, Sarah K., Grant, Adrienne E., Jones, Julie M., Everett, Lesley, Lenk, Guy M., McKenna-Yasek, Diane M., Weisman, Lois S., Figlewicz, Denise, Brown, Robert H., and Meisler, Miriam H.
Abstract: Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P2 are responsible for the recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of FIG4 in 2% (9/473) of patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases., Howard Hughes Medical Institute (Investigator), National Institutes of Health (U.S.) (grant GM24872), National Institutes of Health (U.S.) (grant NS050557), National Institutes of Health (U.S.) (grant NIH NS050557), National Institutes of Health (U.S.) (grant NIH NS050641), National Institutes of Health (U.S.) (grant NIH T32 GM007544), Pierre L. de Bourgknecht ALS Research Foundation, Project ALS Foundation, Angel Fund
Published: 2015

28. Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

Author: Peters, Owen M., primary, Cabrera, Gabriela Toro, additional, Tran, Helene, additional, Gendron, Tania F., additional, McKeon, Jeanne E., additional, Metterville, Jake, additional, Weiss, Alexandra, additional, Wightman, Nicholas, additional, Salameh, Johnny, additional, Kim, Juhyun, additional, Sun, Huaming, additional, Boylan, Kevin B., additional, Dickson, Dennis, additional, Kennedy, Zachary, additional, Lin, Ziqiang, additional, Zhang, Yong-Jie, additional, Daughrity, Lillian, additional, Jung, Chris, additional, Gao, Fen-Biao, additional, Sapp, Peter C., additional, Horvitz, H. Robert, additional, Bosco, Daryl A., additional, Brown, Solange P., additional, de Jong, Pieter, additional, Petrucelli, Leonard, additional, Mueller, Christian, additional, and Brown, Robert H., additional
Published: 2015
Full Text: View/download PDF

29. Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

Author: Dominov, Janice A., primary, Uyan, Özgün, additional, Sapp, Peter C., additional, McKenna‐Yasek, Diane, additional, Nallamilli, Babi Ramesh Reddy, additional, Hegde, Madhuri, additional, and Brown, Robert H., additional
Published: 2015
Full Text: View/download PDF

30. Mutational analysis of TARDBP in neurodegenerative diseases

Author: Ticozzi, Nicola, LeClerc, Ashley Lyn, van Blitterswijk, Marka, Keagle, Pamela, McKenna-Yasek, Diane M., Sapp, Peter C., Silani, Vincenzo, Wills, Anne-Marie, Brown, Robert H., Jr., and Landers, John E.
Published: 2011
Full Text: View/download PDF

31. Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

Author: Jones, Takako I, primary, Yan, Chi, additional, Sapp, Peter C, additional, McKenna-Yasek, Diane, additional, Kang, Peter B, additional, Quinn, Colin, additional, Salameh, Johnny S, additional, King, Oliver D, additional, and Jones, Peter L, additional
Published: 2014
Full Text: View/download PDF

32. Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

Author: Smith, Bradley N., primary, Ticozzi, Nicola, additional, Fallini, Claudia, additional, Gkazi, Athina Soragia, additional, Topp, Simon, additional, Kenna, Kevin P., additional, Scotter, Emma L., additional, Kost, Jason, additional, Keagle, Pamela, additional, Miller, Jack W., additional, Calini, Daniela, additional, Vance, Caroline, additional, Danielson, Eric W., additional, Troakes, Claire, additional, Tiloca, Cinzia, additional, Al-Sarraj, Safa, additional, Lewis, Elizabeth A., additional, King, Andrew, additional, Colombrita, Claudia, additional, Pensato, Viviana, additional, Castellotti, Barbara, additional, de Belleroche, Jacqueline, additional, Baas, Frank, additional, ten Asbroek, Anneloor LMA, additional, Sapp, Peter C., additional, McKenna-Yasek, Diane, additional, McLaughlin, Russell L., additional, Polak, Meraida, additional, Asress, Seneshaw, additional, Esteban-Pérez, Jesús, additional, Muñoz-Blanco, José Luis, additional, Simpson, Michael, additional, van Rheenen, Wouter, additional, Diekstra, Frank P., additional, Lauria, Giuseppe, additional, Duga, Stefano, additional, Corti, Stefania, additional, Cereda, Cristina, additional, Corrado, Lucia, additional, Sorarù, Gianni, additional, Morrison, Karen E., additional, Williams, Kelly L., additional, Nicholson, Garth A., additional, Blair, Ian P., additional, Dion, Patrick A., additional, Leblond, Claire S., additional, Rouleau, Guy A., additional, Hardiman, Orla, additional, Veldink, Jan H., additional, van den Berg, Leonard H., additional, Al-Chalabi, Ammar, additional, Pall, Hardev, additional, Shaw, Pamela J., additional, Turner, Martin R., additional, Talbot, Kevin, additional, Taroni, Franco, additional, García-Redondo, Alberto, additional, Wu, Zheyang, additional, Glass, Jonathan D., additional, Gellera, Cinzia, additional, Ratti, Antonia, additional, Brown, Robert H., additional, Silani, Vincenzo, additional, Shaw, Christopher E., additional, Landers, John E., additional, D’Alfonso, Sandra, additional, Mazzini, Letizia, additional, Comi, Giacomo P., additional, Del Bo, Roberto, additional, Ceroni, Mauro, additional, Gagliardi, Stella, additional, Querin, Giorgia, additional, and Bertolin, Cinzia, additional
Published: 2014
Full Text: View/download PDF

33. A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

Author: Dominov, Janice A., primary, Uyan, Özgün, additional, Sapp, Peter C., additional, McKenna‐Yasek, Diane, additional, Nallamilli, Babi R. R., additional, Hegde, Madhuri, additional, and Brown, Robert H., additional
Published: 2014
Full Text: View/download PDF

34. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

Author: Smith, Bradley N., Newhouse, Stephen, Shatunov, Aleksey, Vance, Caroline, Topp, Simon, Johnson, Lauren, Miller, Jack, Lee, Younbok, Troakes, Claire, Scott, Kirsten M., Jones, Ashley, Gray, Ian, Wright, Jamie, Hortobagyi, Tibor, Al-Sarraj, Safa, Rogelj, Boris, Powell, John, Lupton, Michelle, Lovestone, Simon, Sapp, Peter C., Weber, Markus, Nestor, Peter J., Schelhaas, Helenius J., ten Asbroek, Anneloor A. L. M., Silani, Vincenzo, Gellera, Cinzia, Taroni, Franco, Ticozzi, Nicola, Van den Berg, Leonard, Veldink, Jan, Van Damme, Phillip, Robberecht, Wim, Shaw, Pamela J., Kirby, Janine, Pall, Hardev, Morrison, Karen E., Morris, Alex, de Belleroche, Jacqueline, de Jong, J. M. B. Vianney, Baas, Frank, Andersen, Peter M., Landers, John, Brown, Robert H., Jr., Weale, Michael E., Al-Chalabi, Ammar, Shaw, Christopher E., Smith, Bradley N., Newhouse, Stephen, Shatunov, Aleksey, Vance, Caroline, Topp, Simon, Johnson, Lauren, Miller, Jack, Lee, Younbok, Troakes, Claire, Scott, Kirsten M., Jones, Ashley, Gray, Ian, Wright, Jamie, Hortobagyi, Tibor, Al-Sarraj, Safa, Rogelj, Boris, Powell, John, Lupton, Michelle, Lovestone, Simon, Sapp, Peter C., Weber, Markus, Nestor, Peter J., Schelhaas, Helenius J., ten Asbroek, Anneloor A. L. M., Silani, Vincenzo, Gellera, Cinzia, Taroni, Franco, Ticozzi, Nicola, Van den Berg, Leonard, Veldink, Jan, Van Damme, Phillip, Robberecht, Wim, Shaw, Pamela J., Kirby, Janine, Pall, Hardev, Morrison, Karen E., Morris, Alex, de Belleroche, Jacqueline, de Jong, J. M. B. Vianney, Baas, Frank, Andersen, Peter M., Landers, John, Brown, Robert H., Jr., Weale, Michael E., Al-Chalabi, Ammar, and Shaw, Christopher E.
Abstract: A massive hexanucleotide repeat expansion mutation (HREM) in C9ORF72 has recently been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we describe the frequency, origin and stability of this mutation in ALS+/-FTD from five European cohorts (total n = 1347). Single-nucleotide polymorphisms defining the risk haplotype in linked kindreds were genotyped in cases (n = 434) and controls (n = 856). Haplotypes were analysed using PLINK and aged using DMLE+. In a London clinic cohort, the HREM was the most common mutation in familial ALS+/-FTD: C9ORF72 29/112 (26%), SOD1 27/112 (24%), TARDBP 1/112 (1%) and FUS 4/112 (4%) and detected in 13/216 (6%) of unselected sporadic ALS cases but was rare in controls (3/856, 0.3%). HREM prevalence was high for familial ALS+/-FTD throughout Europe: Belgium 19/22 (86%), Sweden 30/41 (73%), the Netherlands 10/27 (37%) and Italy 4/20 (20%). The HREM did not affect the age at onset or survival of ALS patients. Haplotype analysis identified a common founder in all 137 HREM carriers that arose around 6300 years ago. The haplotype from which the HREM arose is intrinsically unstable with an increased number of repeats (average 8, compared with 2 for controls, P<10(-8)). We conclude that the HREM has a single founder and is the most common mutation in familial and sporadic ALS in Europe.
Published: 2013
Full Text: View/download PDF

35. A large genome scan for rare CNVs in amyotrophic lateral sclerosis

Author: Blauw, Hylke M, Al-Chalabi, Ammar, Andersen, Peter M, van Vught, Paul W J, Diekstra, Frank P, van Es, Michael A, Saris, Christiaan G J, Groen, Ewout J N, van Rheenen, Wouter, Koppers, Max, Van't Slot, Ruben, Strengman, Eric, Estrada, Karol, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, Andre G, Kiemeney, Lambertus A, Vermeulen, Sita H M, Birve, Anna, Waibel, Stefan, Meyer, Thomas, Cronin, Simon, McLaughlin, Russell L, Hardiman, Orla, Sapp, Peter C, Tobin, Martin D, Wain, Louise V, Tomik, Barbara, Slowik, Agnieszka, Lemmens, Robin, Rujescu, Dan, Schulte, Claudia, Gasser, Thomas, Brown, Robert H, Landers, John E, Robberecht, Wim, Ludolph, Albert C, Ophoff, Roel A, Veldink, Jan H, van den Berg, Leonard H, Blauw, Hylke M, Al-Chalabi, Ammar, Andersen, Peter M, van Vught, Paul W J, Diekstra, Frank P, van Es, Michael A, Saris, Christiaan G J, Groen, Ewout J N, van Rheenen, Wouter, Koppers, Max, Van't Slot, Ruben, Strengman, Eric, Estrada, Karol, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, Andre G, Kiemeney, Lambertus A, Vermeulen, Sita H M, Birve, Anna, Waibel, Stefan, Meyer, Thomas, Cronin, Simon, McLaughlin, Russell L, Hardiman, Orla, Sapp, Peter C, Tobin, Martin D, Wain, Louise V, Tomik, Barbara, Slowik, Agnieszka, Lemmens, Robin, Rujescu, Dan, Schulte, Claudia, Gasser, Thomas, Brown, Robert H, Landers, John E, Robberecht, Wim, Ludolph, Albert C, Ophoff, Roel A, Veldink, Jan H, and van den Berg, Leonard H
Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease selectively affecting motor neurons in the brain and spinal cord. Recent genome-wide association studies (GWASs) have identified several common variants which increase disease susceptibility. In contrast, rare copy-number variants (CNVs), which have been associated with several neuropsychiatric traits, have not been studied for ALS in well-powered study populations. To examine the role of rare CNVs in ALS susceptibility, we conducted a CNV association study including over 19,000 individuals. In a genome-wide screen of 1875 cases and 8731 controls, we did not find evidence for a difference in global CNV burden between cases and controls. In our association analyses, we identified two loci that met our criteria for follow-up: the DPP6 locus (OR = 3.59, P = 6.6 × 10(-3)), which has already been implicated in ALS pathogenesis, and the 15q11.2 locus, containing NIPA1 (OR = 12.46, P = 9.3 × 10(-5)), the gene causing hereditary spastic paraparesis type 6 (HSP 6). We tested these loci in a replication cohort of 2559 cases and 5887 controls. Again, results were suggestive of association, but did not meet our criteria for independent replication: DPP6 locus: OR = 1.92, P = 0.097, pooled results: OR = 2.64, P = 1.4 × 10(-3); NIPA1: OR = 3.23, P = 0.041, pooled results: OR = 6.20, P = 2.2 × 10(-5)). Our results highlight DPP6 and NIPA1 as candidates for more in-depth studies. Unlike other complex neurological and psychiatric traits, rare CNVs with high effect size do not play a major role in ALS pathogenesis.
Published: 2010
Full Text: View/download PDF

36. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

Author: Massachusetts Institute of Technology. Department of Biology, Sapp, Peter C., Horvitz, H. Robert, Massachusetts Institute of Technology. Department of Biology, Sapp, Peter C., and Horvitz, H. Robert
Abstract: Amyotrophic lateral sclerosis is a degenerative disorder of motor neurons that typically develops in the 6th decade and is uniformly fatal, usually within 5 years. To identify genetic variants associated with susceptibility and phenotypes in sporadic ALS, we performed a genome-wide SNP analysis in sporadic ALS cases and controls. A total of 288,357 SNPs were screened in a set of 1,821 sporadic ALS cases and 2,258 controls from the U.S. and Europe. Survival analysis was performed using 1,014 deceased sporadic cases. Top results for susceptibility were further screened in an independent sample set of 538 ALS cases and 556 controls. SNP rs1541160 within the KIFAP3 gene (encoding a kinesin-associated protein) yielded a genome-wide significant result (P = 1.84 × 10−8) that withstood Bonferroni correction for association with survival. Homozygosity for the favorable allele (CC) conferred a 14.0 months survival advantage. Sequence, genotypic and functional analyses revealed that there is linkage disequilibrium between rs1541160 and SNP rs522444 within the KIFAP3 promoter and that the favorable alleles of rs1541160 and rs522444 correlate with reduced KIFAP3 expression. No SNPs were associated with risk of sporadic ALS, site of onset, or age of onset. We have identified a variant within the KIFAP3 gene that is associated with decreased KIFAP3 expression and increased survival in sporadic ALS. These findings support the view that genetic factors modify phenotypes in this disease and that cellular motor proteins are determinants of motor neuron viability.
Published: 2010

37. Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS

Author: González-Pérez, Paloma, primary, Lu, Yubing, additional, Chian, Ru-Ju, additional, Sapp, Peter C., additional, Tanzi, Rudolph E., additional, Bertram, Lars, additional, McKenna-Yasek, Diane, additional, Gao, Fen-Biao, additional, and Brown, Robert H., additional
Published: 2012
Full Text: View/download PDF

38. Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes.

Author: Broom, Wendy J, Russ, Carsten, Sapp, Peter C, McKenna-Yasek, Diane, Hosler, Betsy A, Andersen, Peter M, Brown, Robert H, Broom, Wendy J, Russ, Carsten, Sapp, Peter C, McKenna-Yasek, Diane, Hosler, Betsy A, Andersen, Peter M, and Brown, Robert H
Published: 2006

39. The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

Author: Smith, Bradley N, primary, Newhouse, Stephen, additional, Shatunov, Aleksey, additional, Vance, Caroline, additional, Topp, Simon, additional, Johnson, Lauren, additional, Miller, Jack, additional, Lee, Younbok, additional, Troakes, Claire, additional, Scott, Kirsten M, additional, Jones, Ashley, additional, Gray, Ian, additional, Wright, Jamie, additional, Hortobágyi, Tibor, additional, Al-Sarraj, Safa, additional, Rogelj, Boris, additional, Powell, John, additional, Lupton, Michelle, additional, Lovestone, Simon, additional, Sapp, Peter C, additional, Weber, Markus, additional, Nestor, Peter J, additional, Schelhaas, Helenius J, additional, Asbroek, Anneloor ALM ten, additional, Silani, Vincenzo, additional, Gellera, Cinzia, additional, Taroni, Franco, additional, Ticozzi, Nicola, additional, Van den Berg, Leonard, additional, Veldink, Jan, additional, Van Damme, Phillip, additional, Robberecht, Wim, additional, Shaw, Pamela J, additional, Kirby, Janine, additional, Pall, Hardev, additional, Morrison, Karen E, additional, Morris, Alex, additional, de Belleroche, Jacqueline, additional, Vianney de Jong, J M B, additional, Baas, Frank, additional, Andersen, Peter M, additional, Landers, John, additional, Brown, Robert H, additional, Weale, Michael E, additional, Al-Chalabi, Ammar, additional, and Shaw, Christopher E, additional
Published: 2012
Full Text: View/download PDF

40. Paraoxonase gene mutations in amyotrophic lateral sclerosis

Author: Ticozzi, Nicola, primary, LeClerc, Ashley Lyn, additional, Keagle, Pamela J., additional, Glass, Jonathan D., additional, Wills, Anne-Marie, additional, van Blitterswijk, Marka, additional, Bosco, Daryl A., additional, Rodriguez-Leyva, Ildefonso, additional, Gellera, Cinzia, additional, Ratti, Antonia, additional, Taroni, Franco, additional, McKenna-Yasek, Diane, additional, Sapp, Peter C., additional, Silani, Vincenzo, additional, Furlong, Clement E., additional, Brown, Robert H., additional, and Landers, John E., additional
Published: 2010
Full Text: View/download PDF

41. A common haplotype within the PON1 promoter region is associated with sporadic ALS

Author: Landers, John E., primary, Shi, Lijia, additional, Cho, Ting-Jan, additional, Glass, Jonathan D., additional, Shaw, Christopher E., additional, Leigh, P. Nigel, additional, Diekstra, Frank, additional, Polak, Meraida, additional, Rodriguez-Leyva, Ildefonso, additional, Niemann, Stephan, additional, Traynor, Bryan J., additional, Mckenna-Yasek, Diane, additional, Sapp, Peter C., additional, Al-Chalabi, Ammar, additional, Wills, Anne-Marie A., additional, and Brown, Robert H., additional
Published: 2008
Full Text: View/download PDF

42. 50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis

Author: Broom, Wendy J., primary, Greenway, Matthew, additional, Sadri-Vakili, Ghazaleh, additional, Russ, Carsten, additional, Auwarter, Kristen E., additional, Glajch, Kelly E., additional, Dupre, Nicolas, additional, Swingler, Robert J., additional, Purcell, Shaun, additional, Hayward, Caroline, additional, Sapp, Peter C., additional, McKenna-Yasek, Diane, additional, Valdmanis, Paul N., additional, Bouchard, Jean-Pierre, additional, Meininger, Vincent, additional, Hosler, Betsy A., additional, Glass, Jonathan D., additional, Polack, Meraida, additional, Rouleau, Guy A., additional, Cha, Jang-Ho J., additional, Hardiman, Orla, additional, and Brown, Robert H., additional
Published: 2008
Full Text: View/download PDF

43. Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes

Author: Broom, Wendy J., primary, Russ, Carsten, additional, Sapp, Peter C., additional, McKenna-Yasek, Diane, additional, Hosler, Betsy A., additional, Andersen, Peter M., additional, and Brown, Robert H., additional
Published: 2006
Full Text: View/download PDF

44. No association ofDYNC1H1with sporadic ALS in a case‐control study of a northern European derived population: A tagging SNP approach

Author: Shah, Paresh R., primary, Ahmad‐Annuar, Azlina, additional, Ahmadi, Kourosh R., additional, Russ, Carsten, additional, Sapp, Peter C., additional, Robert Horvitz, H., additional, Brown, Robert H., additional, Goldstein, David B., additional, and Fisher, Elizabeth M. C., additional
Published: 2006
Full Text: View/download PDF

45. Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

Author: Hosler, Betsy A., primary, Nicholson, Garth A., additional, Sapp, Peter C., additional, Chin, Wendy, additional, Orrell, Richard W., additional, De Belleroche, Jackie S., additional, Esteban, Jesus, additional, Hayward, Lawrence J., additional, McKenna-Yasek, Diane, additional, Yeung, Leone, additional, Cherryson, Annia K., additional, Dench, Joanne E., additional, Wilton, Steve D., additional, Laing, Nigel G., additional, Horvitz, H.Robert, additional, and Brown, Robert H., additional
Published: 1996
Full Text: View/download PDF

46. Identification of three novel mutations in the gene for CuZn superoxide dismutase in patients with familial amyotrophic lateral sclerosis

Author: Sapp, Peter C, primary, Rosen, Daniel R, additional, Hosler, Betsy A, additional, Esteban, Jesus, additional, McKenna-Yasek, Diane, additional, O'regan, Jeremiah P, additional, Horvitz, H.Robert, additional, and Brown, Robert H, additional
Published: 1995
Full Text: View/download PDF

47. The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder.

Author: Smith, Bradley N, Newhouse, Stephen, Shatunov, Aleksey, Vance, Caroline, Topp, Simon, Johnson, Lauren, Miller, Jack, Lee, Younbok, Troakes, Claire, Scott, Kirsten M, Jones, Ashley, Gray, Ian, Wright, Jamie, Hortobágyi, Tibor, Al-Sarraj, Safa, Rogelj, Boris, Powell, John, Lupton, Michelle, Lovestone, Simon, and Sapp, Peter C
Subjects: GENETIC mutation, NUCLEOTIDES, AMYOTROPHIC lateral sclerosis, HAPLOTYPES
Abstract: A massive hexanucleotide repeat expansion mutation (HREM) in C9ORF72 has recently been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we describe the frequency, origin and stability of this mutation in ALS+/−FTD from five European cohorts (total n=1347). Single-nucleotide polymorphisms defining the risk haplotype in linked kindreds were genotyped in cases (n=434) and controls (n=856). Haplotypes were analysed using PLINK and aged using DMLE+. In a London clinic cohort, the HREM was the most common mutation in familial ALS+/−FTD: C9ORF72 29/112 (26%), SOD1 27/112 (24%), TARDBP 1/112 (1%) and FUS 4/112 (4%) and detected in 13/216 (6%) of unselected sporadic ALS cases but was rare in controls (3/856, 0.3%). HREM prevalence was high for familial ALS+/−FTD throughout Europe: Belgium 19/22 (86%), Sweden 30/41 (73%), the Netherlands 10/27 (37%) and Italy 4/20 (20%). The HREM did not affect the age at onset or survival of ALS patients. Haplotype analysis identified a common founder in all 137 HREM carriers that arose around 6300 years ago. The haplotype from which the HREM arose is intrinsically unstable with an increased number of repeats (average 8, compared with 2 for controls, P<10−8). We conclude that the HREM has a single founder and is the most common mutation in familial and sporadic ALS in Europe. [ABSTRACT FROM AUTHOR]
Published: 2013
Full Text: View/download PDF

48. Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.

Author: González-Pérez, Paloma, Cirulli, Elizabeth T., Drory, Vivian E., Dabby, Ron, Nisipeanu, Puiu, Carasso, Ralph L., Sadeh, Menachem, Fox, Andrew, Festoff, Barry W., Sapp, Peter C., McKenna-Yasek, Diane, Goldstein, David B., Brown Jr., Robert H., and Blumen, Sergiu C.
Published: 2012
Full Text: View/download PDF

49. No association of DYNC1H1 with sporadic ALS in a case‐control study of a northern European derived population: A tagging SNP approach.

Author: Shah, Paresh R., Ahmad‐Annuar, Azlina, Ahmadi, Kourosh R., Russ, Carsten, Sapp, Peter C., Robert Horvitz, H., Brown, Robert H., Goldstein, David B., and Fisher, Elizabeth M. C.
Subjects: AMYOTROPHIC lateral sclerosis, MOTOR neuron diseases, DYNEIN, ADENOSINE triphosphatase, NUCLEOTIDES, GENETIC polymorphisms
Abstract: The cytoplasmic dynein-dynactin complex has been implicated in the aetiology of motor neuron degeneration in both mouse models and human forms of motor neuron disease. We have previously shown that mutations in the cytoplasmic dynein 1 heavy chain 1 gene ( Dync1h1 ) are causal in a mouse model of late-onset motor neuron degeneration but have found no association of the homologous sites in human DYNC1H1 with human motor neuron disease. Here we extend these analyses to investigate the DYNC1H1 genomic locus to determine if it is associated with sporadic amyotrophic lateral sclerosis (ALS) in a northern European-derived population. Among the 16 single nucleotide polymorphisms (SNPs) we examined, just two SNPs (rs2251644 and rs941793) were sufficient to tag the majority of haplotypic variation ( r 2 ?0.85) and these were tested in a case-control association study with 266 North American sporadic ALS patients and 225 matched controls. We found no association between genetic variation at DYNC1H1 and sporadic ALS (rs2251644; p = 0.538, rs941793; p = 0.204, haplotype; p = 0.956). In addition we investigated patterns of diversity at DYNC1H1 in Japanese and Cameroonian populations to establish the evolutionary history for this gene and observed reduced genetic diversity in the northern Europeans suggestive of selection at this locus. [ABSTRACT FROM AUTHOR]
Published: 2006
Full Text: View/download PDF

50. Novel mutation in VCPgene causes atypical amyotrophic lateral sclerosis

Author: González-Pérez, Paloma, Cirulli, Elizabeth T., Drory, Vivian E., Dabby, Ron, Nisipeanu, Puiu, Carasso, Ralph L., Sadeh, Menachem, Fox, Andrew, Festoff, Barry W., Sapp, Peter C., McKenna-Yasek, Diane, Goldstein, David B., Brown, Robert H., and Blumen, Sergiu C.
Abstract: To identify the genetic variant that causes autosomal dominantly inherited motor neuron disease in a 4-generation Israeli-Arab family using genetic linkage and whole exome sequencing.
Published: 2012
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Topic

Publication Year Range

Language

Publication Type

Journal

Region

Database

Publisher

131 results on '"Sapp, Peter C"'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources