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282 results on '"Connolly, Anne M."'

1. Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.

Author

Waldrop, Megan A, Moore, Steven A, Mathews, Katherine D, Darbro, Benjamin W, Medne, Livja, Finkel, Richard, Connolly, Anne M, Crawford, Thomas O, Drachman, Daniel, Wein, Nicolas, Habib, Ali A, Krzesniak-Swinarska, Monika A, Zaidman, Craig M, Collins, James J, Jokela, Manu, Udd, Bjarne, Day, John W, Ortiz-Guerrero, Gloria, Statland, Jeff, Butterfield, Russell J, Dunn, Diane M, Weiss, Robert B, and Flanigan, Kevin M

Subjects
Humans, Muscular Dystrophy, Duchenne, Dystrophin, RNA Splice Sites, Mutation, Introns, Becker muscular dystrophy, Duchenne muscular dystrophy, deep intronic, pseudoexon, telescripting, transcription termination, Muscular Dystrophy, Biotechnology, Human Genome, Genetics, Intellectual and Developmental Disabilities (IDD), Duchenne/ Becker Muscular Dystrophy, Brain Disorders, Rare Diseases, Pediatric, Musculoskeletal, Clinical Sciences, Genetics & Heredity
Abstract

DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with high sensitivity by standard clinical exome analyses of genomic DNA. However, up to 7% of DMD mutations are deep intronic and analysis of muscle-derived RNA is an important diagnostic step for patients who have negative genomic testing but abnormal dystrophin expression in muscle. In this study, muscle biopsies were evaluated from 19 patients with clinical features of a dystrophinopathy, but negative clinical DMD mutation analysis. Reverse transcription-polymerase chain reaction or high-throughput RNA sequencing methods identified 19 mutations with one of three pathogenic pseudoexon types: deep intronic point mutations, deletions or insertions, and translocations. In association with point mutations creating intronic splice acceptor sites, we observed the first examples of DMD pseudo 3'-terminal exon mutations causing high efficiency transcription termination within introns. This connection between splicing and premature transcription termination is reminiscent of U1 snRNP-mediating telescripting in sustaining RNA polymerase II elongation across large genes, such as DMD. We propose a novel classification of three distinct types of mutations identifiable by muscle RNA analysis, each of which differ in potential treatment approaches. Recognition and appropriate characterization may lead to therapies directed toward full-length dystrophin expression for some patients.

Published
2022

2. Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio

Author

Waldrop, Megan A, Chagat, Shannon, Storey, Michael, Meyer, Alayne, Iammarino, Megan, Reash, Natalie, Alfano, Lindsay, Lowes, Linda, Noritz, Garey, Prochoroff, Andre, Rossman, Ian, Ginsberg, Matthew, Mosher, Kathryn, Broomall, Eileen, Bass, Nancy, Gushue, Courtney, Kotha, Kavitha, Paul, Grace, Shell, Richard, Tsao, Chang-Yong, Mendell, Jerry R., and Connolly, Anne M.

Published
2024
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3. Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.

Author

Rudnicki, Stacy A, Andrews, Jinsy A, Duong, Tina, Cockroft, Bettina M, Malik, Fady I, Meng, Lisa, Wei, Jenny, Wolff, Andrew A, Genge, Angela, Johnson, Nicholas E, Tesi-Rocha, Carolina, Connolly, Anne M, Darras, Basil T, Felice, Kevin, Finkel, Richard S, Shieh, Perry B, Mah, Jean K, Statland, Jeffrey, Campbell, Craig, Habib, Ali A, Kuntz, Nancy L, Oskoui, Maryam, and Day, John W

Subjects
Muscle, Skeletal, Humans, Muscular Atrophy, Spinal, Troponin I, Drugs, Investigational, Cohort Studies, Double-Blind Method, Adolescent, Adult, Aged, Middle Aged, Child, Female, Male, Young Adult, Walk Test, Reldesemtiv, pharmacodynamics, pharmacokinetics, six-minute walk test, spinal muscular atrophy clinical trial, Clinical Research, Clinical Trials and Supportive Activities, Rare Diseases, 6.1 Pharmaceuticals, Neurosciences, Pharmacology and Pharmaceutical Sciences, Public Health and Health Services, Neurology & Neurosurgery
Abstract

This phase 2, double-blind, placebo-controlled, hypothesis-generating study evaluated the effects of oral reldesemtiv, a fast skeletal muscle troponin activator, in patients with spinal muscular atrophy (SMA). Patients ≥ 12 years of age with type II, III, or IV SMA were randomized into 2 sequential, ascending reldesemtiv dosing cohorts (cohort 1: 150 mg bid or placebo [2:1]; cohort 2: 450 mg bid or placebo [2:1]). The primary objective was to determine potential pharmacodynamic effects of reldesemtiv on 8 outcome measures in SMA, including 6-minute walk distance (6MWD) and maximum expiratory pressure (MEP). Changes from baseline to weeks 4 and 8 were determined. Pharmacokinetics and safety were also evaluated. Patients were randomized to reldesemtiv 150 mg, 450 mg, or placebo (24, 20, and 26, respectively). The change from baseline in 6MWD was greater for reldesemtiv 450 mg than for placebo at weeks 4 and 8 (least squares [LS] mean difference, 35.6 m [p = 0.0037] and 24.9 m [p = 0.058], respectively). Changes from baseline in MEP at week 8 on reldesemtiv 150 and 450 mg were significantly greater than those on placebo (LS mean differences, 11.7 [p = 0.038] and 13.2 cm H2O [p = 0.03], respectively). For 6MWD and MEP, significant changes from placebo were seen in the highest reldesemtiv peak plasma concentration quartile (Cmax > 3.29 μg/mL; LS mean differences, 43.3 m [p = 0.010] and 28.8 cm H2O [p = 0.0002], respectively). Both dose levels of reldesemtiv were well tolerated. Results suggest reldesemtiv may offer clinical benefit and support evaluation in larger SMA patient populations.

Published
2021

4. Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians

Author

Veerapandiyan, Aravindhan, primary, Connolly, Anne M., additional, Mathews, Katherine D., additional, Nelson, Stanley, additional, McDonald, Craig, additional, Finkel, Richard S., additional, Vedanarayanan, Vettaikorumakankav, additional, Tian, Cuixia, additional, Apkon, Susan, additional, Parsons, Julie A., additional, Soslow, Jonathan H., additional, Burnette, William Bryan, additional, Batley, Kaitlin Y., additional, Iannaccone, Susan T., additional, Rocha, Carolina Tesi, additional, Flanigan, Kevin M., additional, Bharucha‐Goebel, Diana, additional, Wright, Sarah, additional, Monduy, Migvis, additional, Treidler, Simona, additional, Kumar, Ashutosh, additional, Kuntz, Nancy L., additional, Rao, Vamshi K., additional, Schrader, Rachel, additional, Bernes, Saunder M., additional, Stefans, Vikki Ann, additional, Krueger, Jena M., additional, Felker, Marcia V., additional, Hamid, Omer Abdul, additional, Lakhotia, Arpita, additional, Matesanz, Susan, additional, Ghosh, Partha S., additional, Katz, Natalie, additional, Abdel‐Hamid, Hoda, additional, Laverty, Chamindra G., additional, Lee, Bo Hoon, additional, Harper, Amy, additional, Ramos‐Platt, Leigh, additional, Castro, Diana, additional, Butterfield, Russell J., additional, Proud, Crystal M., additional, Zaidman, Craig M., additional, and Ciafaloni, Emma, additional

Published
2024
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5. Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy

Author

Zaidman, Craig M., primary, Goedeker, Natalie L., additional, Aqul, Amal A., additional, Butterfield, Russell J., additional, Connolly, Anne M., additional, Crystal, Ronald G., additional, Godwin, Kara E., additional, Hor, Kan N., additional, Mathews, Katherine D., additional, Proud, Crystal M., additional, Smyth, Elizabeth Kula, additional, Veerapandiyan, Aravindhan, additional, Watkins, Paul B., additional, and Mendell, Jerry R., additional

Published
2024
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6. Findings from the Longitudinal CINRG Becker Natural History Study

Author

Clemens, Paula R., primary, Gordish-Dressman, Heather, additional, Niizawa, Gabriela, additional, Gorni, Ksenija, additional, Guglieri, Michela, additional, Connolly, Anne M., additional, Wicklund, Matthew, additional, Bertorini, Tulio, additional, Mah, Jean, additional, Thangarajh, Mathula, additional, Smith, Edward C., additional, Kuntz, Nancy L., additional, McDonald, Craig M., additional, Henricson, Erik, additional, Upadhyayula, S, additional, Byrne, Barry, additional, Manousakis, Georgios, additional, Harper, Amy, additional, Iannaccone, Susan, additional, and Dang, Utkarsh J., additional

Published
2024
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7. Moving Beyond the 2018 Minimum International Care Considerations for Osteoporosis Management in Duchenne Muscular Dystrophy (DMD): Meeting Report from the 3rd International Muscle-Bone Interactions Meeting 7th and 14th November 2022

Author

Phung, Kim, primary, Crabtree, Nicola, additional, Connolly, Anne M., additional, Furlong, Pat, additional, Hoffman, Eric P., additional, Jackowski, Stefan A., additional, Jayash, Soher Nagi, additional, Johnson, Alex, additional, Koujok, Khaldoun, additional, Munns, Craig F., additional, Niks, Erik, additional, Rauch, Frank, additional, Schrader, Rachel, additional, Turner, Cathy, additional, Vroom, Elizabeth, additional, Weber, David R., additional, Wong, Brenda L., additional, Guglieri, Michela, additional, Ward, Leanne M., additional, and Wong, Sze Choong, additional

Published
2024
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8. Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy

Author

Vishwanathan, V., Chidambaranathan, S., Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Tulinius, Mar, Cnaan, Avital, Morgenroth, Lauren P., Leshner, Robert, TesiRocha, Carolina, Thangarajh, Mathula, Duong, Tina, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel-Hamid, Hoda, Connolly, Anne M., Pestronk, Alan, Teasley, Jean, Bertorini, Tulio E., Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Day, John W., Karachunski, Peter, Henricson, Erik K., Abresch, Richard T., Joyce, Nanette C., McDonald, Craig M., Landfeldt, Erik, Iff, Joel, and Henricson, Erik

Published
2021
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9. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Author

Mohassel, Payam, Donkervoort, Sandra, Lone, Museer A., Nalls, Matthew, Gable, Kenneth, Gupta, Sita D., Foley, A. Reghan, Hu, Ying, Saute, Jonas Alex Morales, Moreira, Ana Lucila, Kok, Fernando, Introna, Alessandro, Logroscino, Giancarlo, Grunseich, Christopher, Nickolls, Alec R., Pourshafie, Naemeh, Neuhaus, Sarah B., Saade, Dimah, Gangfuß, Andrea, Kölbel, Heike, Piccus, Zoe, Le Pichon, Claire E., Fiorillo, Chiara, Ly, Cindy V., Töpf, Ana, Brady, Lauren, Specht, Sabine, Zidell, Aliza, Pedro, Helio, Mittelmann, Eric, Thomas, Florian P., Chao, Katherine R., Konersman, Chamindra G., Cho, Megan T., Brandt, Tracy, Straub, Volker, Connolly, Anne M., Schara, Ulrike, Roos, Andreas, Tarnopolsky, Mark, Höke, Ahmet, Brown, Robert H., Lee, Chia-Hsueh, Hornemann, Thorsten, Dunn, Teresa M., and Bönnemann, Carsten G.

Published
2021
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12. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

Author

Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, and Mendell, Jerry R

Published
2021
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13. Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study

Author

Rudnicki, Stacy A., Andrews, Jinsy A., Duong, Tina, Cockroft, Bettina M., Malik, Fady I., Meng, Lisa, Wei, Jenny, Wolff, Andrew A., Genge, Angela, Johnson, Nicholas E., Tesi-Rocha, Carolina, Connolly, Anne M., Darras, Basil T., Felice, Kevin, Finkel, Richard S., Shieh, Perry B., Mah, Jean K., Statland, Jeffrey, Campbell, Craig, Habib, Ali A., Kuntz, Nancy L., Oskoui, Maryam, and Day, John W.

Published
2021
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14. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.

Author

Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M., and Bahr, Angela

Subjects
MUSCULAR dystrophy, FACIOSCAPULOHUMERAL muscular dystrophy, GENE expression, RNA splicing, HOMEOSTASIS, RNA, NUCLEOPROTEINS, CRISPRS
Abstract

SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic SNUPN biallelic variants, predominantly clustered in the last coding exon, are ascertained to segregate with the disease. We demonstrate that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients' primary fibroblasts and CRISPR/Cas9-mediated mutant cell lines. Additionally, mutant nuclei exhibit defective spliceosomal maturation and breakdown of Cajal bodies. Transcriptome analyses reveal splicing and mRNA expression dysregulation, particularly in sarcolemmal components, causing disruption of cytoskeletal organization in mutant cells and patient muscle tissues. Our findings establish SNUPN deficiency as the genetic etiology of a previously unrecognized subtype of muscular dystrophy and provide robust evidence of the role of SPN1 for muscle homeostasis. SNURPORTIN-1, encoded by the SNUPN gene, plays a key role in the nuclear import of spliceosomal small nuclear ribonucleoproteins, however its physiological function remains unclear. Here the authors report that recessive SNUPN mutations cause a distinct subtype of childhood muscular dystrophy and reveal SNURPORTIN-1's role in muscle homeostasis, offering insights for new therapeutic strategies. [ABSTRACT FROM AUTHOR]

Published
2024
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16. Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

Author

Bartlett, Amy, Kolb, Stephen J., Kingsley, Allison, Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan T., Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Coffey, Christopher S., Yankey, Jon W., Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Arnold, W. David, and Kissel, John T.

Published
2018
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17. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

Author

Vishwanathan, Vijay, Chidambaranathan, S, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Tulinius, Mar, Cnaan, Avital, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula, Duong, Tina, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel-Hamid, Hoda, Connolly, Anne M., Pestronk, Alan, Teasley, Jean, Bertorin, Tulio E., Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Day, John W., Karachunski, Peter, Henricson, Erik K., Abresch, Richard T., Joyce, Nanette C., McDonald, Craig M., McDonald, Craig M, Henricson, Erik K, Abresch, Richard T, Joyce, Nanette C, Hu, Fengming, Clemens, Paula R, Hoffman, Eric P, and Gordish-Dressman, Heather

Published
2018
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20. Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)

Author

Finkel, Richard S., primary, Darras, Basil T., additional, Mendell, Jerry R., additional, Day, John W., additional, Kuntz, Nancy L., additional, Connolly, Anne M., additional, Zaidman, Craig M., additional, Crawford, Thomas O., additional, Butterfield, Russell J., additional, Shieh, Perry B., additional, Tennekoon, Gihan, additional, Brandsema, John F., additional, Iannaccone, Susan T., additional, Shoffner, John, additional, Kavanagh, Sarah, additional, Macek, Thomas A., additional, and Tauscher-Wisniewski, Sitra, additional

Published
2023
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23. Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy

Author

Alfano, Lindsay N., Charleston, Jay S., Connolly, Anne M., Cripe, Linda, Donoghue, Cas, Dracker, Robert, Dworzak, Johannes, Eliopoulos, Helen, Frank, Diane E., Lewis, Sarah, Lucas, Karin, Lynch, Jessie, Milici, A. J., Flynt, Amy, Naughton, Emily, Rodino-Klapac, Louise R., Sahenk, Zarife, Schnell, Frederick J., Young, G. David, Mendell, Jerry R., and Lowes, Linda P.

Published
2019
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26. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

Author

Mercuri, Eugenio, Darras, Basil T., Chiriboga, Claudia A., Day, John W., Campbell, Craig, Connolly, Anne M., Iannaccone, Susan T., Kirschner, Janbernd, Kuntz, Nancy L., Saito, Kayoko, Shieh, Perry B., Tulinius, Már, Mazzone, Elena S., Montes, Jacqueline, Bishop, Kathie M., Yang, Qingqing, Foster, Richard, Gheuens, Sarah, Bennett, Frank C., Farwell, Wildon, Schneider, Eugene, De Vivo, Darryl C., and Finkel, Richard S.

Published
2018
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28. Contributors

Author

Aaen, Gregory S., primary, Abend, Nicholas Scott, additional, Abou-Hamden, Amal, additional, Allen, Jeffrey C., additional, Amato, Anthony A., additional, Amlie-Lefond, Catherine, additional, Ashwal, Stephen, additional, Bailey, Russell C., additional, Bale, James F., additional, Banwell, Brenda, additional, Barañano, Kristin W., additional, Barkovich, A. James, additional, Barohn, Richard J., additional, Bartels, Ute K., additional, Bartnik-Olson, Brenda, additional, Barzilai, Ori, additional, Bassuk, Alexander, additional, Bearden, David R., additional, Ben-Sira, Liat, additional, Bernard, Timothy J., additional, Berry-Kravis, Elizabeth, additional, Beslow, Lauren A., additional, Biegel, Jaclyn A., additional, Billinghurst, Lori, additional, Birnbaum, Angela K., additional, Blackburn, Joanna S., additional, Bobowski, Nuala, additional, Boire, Adrienne, additional, Bönnemann, Carsten G., additional, Bonifacio, Sonia L., additional, Bonthius, Daniel J., additional, Borcherding, Breck, additional, Branchford, Brian R., additional, Brandsema, John, additional, Brennan, Kathryn M., additional, Brenton, J. Nicholas, additional, Brooks-Kayal, Amy R., additional, Brown, Lawrence W., additional, Buchalter, Jeffrey, additional, Camfield, Carol S., additional, Camfield, Peter R., additional, Campoy, Cristina, additional, Carpenter, Jessica L., additional, Chang, Taeun, additional, Chau, Vann, additional, Chi, Susan N., additional, Chiriboga, Claudia A., additional, Cho, Yoon-Jae, additional, Christian, Cindy W., additional, Chrestian, Nicholas, additional, Cilio, Maria Roberta, additional, Clark, Robin D., additional, Cohen, Bruce H., additional, Cohn, Ronald D., additional, Connolly, Anne M., additional, Constable, Todd, additional, Constantini, Shlomi, additional, Conway, Jeannine M., additional, Coulter, David L., additional, Cowan, Tina M., additional, Dale, Russell C., additional, Darbro, Benjamin, additional, Darras, Basil T., additional, Dastgir, Jahannaz, additional, De Meirleir, Linda, additional, De Vivo, Darryl C., additional, de Vries, Linda S., additional, Deisch, Jeremy K., additional, Deltenre, Paul, additional, Desai, Jay, additional, Descartes, Maria, additional, deVeber, Gabrielle, additional, Dhamne, Sameer C., additional, Diaz, Jullianne, additional, DiMauro, Salvatore, additional, Dobyns, William B., additional, Doherty, Dan, additional, Donner, Elizabeth J., additional, Dosenbach, Nico U.F., additional, Dowling, James J., additional, Drake, James M., additional, Ejerskov, Cecile, additional, Engel, Andrew G., additional, Enns, Gregory M., additional, Escolano-Margarit, María Victoria, additional, Etzion, Iris, additional, Fatemi, S. Ali, additional, Fehlings, Darcy L., additional, Feinberg, Michelle Lauren, additional, Ferriero, Donna M., additional, Filipek, Pauline A., additional, Finkel, Richard S., additional, Fisher, Paul G., additional, Flanigan, Kevin, additional, Foreman, Nicholas K., additional, Franco, Israel, additional, Frank, Yitzchak, additional, Fredrick, Douglas R., additional, Freeze, Hudson H., additional, Fuente-Mora, Cristina, additional, Furman, Joseph M., additional, Gallagher, Renata C., additional, Garel, Catherine, additional, Gertsch, Emily, additional, Gilbert, Donald L., additional, Gilles, Elizabeth E., additional, Giza, Christopher C., additional, Glaser, Carol A., additional, Glass, Hannah C., additional, Glauser, Tracy, additional, Glykys, Joseph, additional, Goldstein, Amy, additional, Gonorazky, Hernan Dario, additional, Gonzalez, Rodolfo, additional, Goodkin, Howard P., additional, Graham, John M., additional, Greninger, Alexander L., additional, Gronseth, Gary, additional, Gropman, Andrea L., additional, Grundy, Richard, additional, Guerrini, Renzo, additional, Gupta, Nalin, additional, Hahn, Jin S., additional, Hamblin, Milton H., additional, Hani, Abeer J., additional, Hanmantgad, Sharyu, additional, Harbert, Mary J., additional, Harini, Chellamani, additional, Harriott, Andrea M., additional, Heatwole, Chad, additional, Hershey, Andrew D., additional, Hirtz, Deborah G., additional, Holmes, Gregory L., additional, Holshouser, Barbara A., additional, Hurwitz, Kathleen A., additional, Hwang, Eugene, additional, Ichord, Rebecca N., additional, Jafar-Nejad, Paymaan, additional, Jain, Sejal V., additional, Jordan, Lori, additional, Kabbouche, Marielle A., additional, Kacperski, Joanne, additional, Kang, Peter B., additional, Kariannis, Matthias A., additional, Kaufmann, Horacio, additional, Kaye, Harper L., additional, Keating, Robert, additional, Kennedy, Colin R., additional, Khakoo, Yasmin, additional, Kirton, Adam, additional, Kissel, John T., additional, Knupp, Kelly G., additional, Korf, Bruce R., additional, Kossoff, Eric H., additional, Kothare, Sanjeev V., additional, Kupfer, Oren, additional, LaFrance, W. Curt, additional, Latal, Beatrice, additional, Leber, Steven M., additional, Lee, Jean-Pyo, additional, Leppik, Ilo E., additional, Lerman-Sagie, Tally, additional, Lerner, Jason T., additional, Leventer, Richard J., additional, Licht, Daniel J., additional, Lichter-Konecki, Uta, additional, Lidar, Zvi, additional, Liem, Djin Gie, additional, Loddenkemper, Tobias, additional, Long, Roger K., additional, Luc, Quyen N., additional, Mackay, Mark, additional, Majnemer, Annette, additional, Makhani, Naila, additional, Malinger, Gustavo, additional, Mandelbaum, David E., additional, Maricich, Stephen M., additional, Maski, Kiran P., additional, Mathur, Mudit, additional, Matthews, Dennis J., additional, McMahon, Kelly, additional, DeMara-Hoth, Megan B., additional, Mendelsohn, Bryce, additional, Mennella, Julie A., additional, Ment, Laura R., additional, Mercuri, Eugenio, additional, Michelson, David J., additional, Mikati, Mohamad A., additional, Mikhail, Fady M., additional, Miller, Steven Paul, additional, Milunsky, Jeff M., additional, Mink, Jonathan W., additional, Mirzaa, Ghayda M., additional, Mitchell, Wendy G., additional, Mohan, Michael A., additional, Mohassel, Payam, additional, Moharir, Mahendranath, additional, Monani, Umrao R., additional, Monje Deisseroth, Michelle, additional, Moodley, Manikum, additional, Mower, Andrew, additional, Moxley, Richard T., additional, Mueller, Sabine, additional, Muotri, Alysson R., additional, Nagamani, Sandesh C.S., additional, Narayanan, Mohan J., additional, Narayanan, Vinodh, additional, Nass, Ruth D., additional, Neul, Jeffrey L., additional, Nevo, Yoram, additional, Ng, Bobby G., additional, Nickels, Katherine C., additional, Nimmo, Graeme A.M., additional, Noetzel, Michael J., additional, Norcliffe-Kaufmann, Lucy, additional, Nordli, Douglas R., additional, Nowak-Göttl, Ulrike, additional, O'Brien, Hope L., additional, Oleszek, Joyce, additional, Oskoui, Maryam, additional, Paciorkowski, Alex R., additional, Packer, Roger J., additional, Packman, Seymour, additional, Palma, Jose-Alberto, additional, Pardo, Andrea C., additional, Parsons, Julie A., additional, Partridge, John Colin, additional, Pastores, Gregory M., additional, Patterson, Marc C., additional, Pearce, William J., additional, Pearl, Phillip L., additional, Penner, Melanie, additional, Percival, Leila, additional, Pereira, Marcia, additional, Pfister, Stefan M., additional, Phillips, John, additional, Plecko, Barbara, additional, Plioplys, Sigita, additional, Poduri, Annapurna, additional, Poisson, Sharon, additional, Pomeroy, Scott L., additional, Poretti, Andrea, additional, Powers, Scott W., additional, Pranzatelli, Michael R., additional, Przekop, Allison, additional, Rabie, Malcolm, additional, Rangasamy, Sampathkumar, additional, Raymond, Gerald V., additional, Reddy, Alyssa T., additional, Rendleman, Rebecca L., additional, Rho, Jong M., additional, Rodan, Lance H., additional, Roddy, Sarah M., additional, Rogers, Elizabeth E., additional, Rosenthal, Stephen M., additional, Rosman, N. Paul, additional, Ross, M. Elizabeth, additional, Rotenberg, Alexander, additional, Rust, Robert S., additional, Sanchez, Cheryl P., additional, Sanchez, Pedro, additional, Sánchez Fernández, Iván, additional, Sands, Tristan T., additional, Sanger, Terence D., additional, Sannagowdara, Kumar, additional, Scheinost, Dustin, additional, Scher, Mark S., additional, Schor, Nina F., additional, Schrauwen, Isabelle, additional, Segal, Michael M., additional, Seinfeld, Syndi, additional, Selcen, Duygu, additional, Seltzer, Laurie E., additional, Semrud-Clikeman, Margaret, additional, Shaw, Dennis W., additional, Shaywitz, Bennett A., additional, Shaywitz, Sally E., additional, Shellhaas, Renée A., additional, Sherr, Elliott H., additional, Sheth, Rita D., additional, Shevell, Michael I., additional, Shinnar, Shlomo, additional, Shofty, Ben, additional, Shu, Stanford K., additional, Shy, Michael E., additional, Silveira Moriyama, Laura, additional, Silvestri, Nicholas J., additional, Sims, Katherine B., additional, Singer, Harvey S., additional, Singhal, Nilika Shah, additional, Smith, Craig M., additional, Smith, Edward, additional, Smith, Stephen A., additional, Snyder, Evan Y., additional, Soul, Janet, additional, Spalink, Christy L., additional, Spencer, Karen A., additional, Stafstrom, Carl E., additional, Steinfeld, Robert, additional, Strober, Jonathan B., additional, Sullivan, Joseph, additional, Swaiman, Kenneth F., additional, Swoboda, Kathryn J., additional, Tate, Elizabeth D., additional, Tatum, William O., additional, Tein, Ingrid, additional, Tekulve, Kristyn, additional, Tenney, Jeffrey R., additional, Thiele, Elizabeth A., additional, Thompson-Stone, Robert, additional, Tochen, Laura, additional, Tormoehlen, Laura M., additional, Tran, Lily, additional, Trauner, Doris A., additional, Turnacioglu, Sinan O., additional, Ullrich, Nicole J., additional, Urion, David K., additional, Van Camp, Guy, additional, Van Hirtum-Das, Michèle, additional, van Karnebeek, Clara D.M., additional, Van Maldergem, Lionel, additional, Vanderver, Adeline, additional, Vitanza, Nicholas A., additional, von Rhein, Michael, additional, von Scheven, Emily, additional, Wagner, Ann, additional, Wainwright, Mark S., additional, Walker, Melissa A., additional, Walkup, John T., additional, Walsh, Laurence, additional, Walters-Sen, Lauren C., additional, Wang, Raymond Y., additional, Warner, Thomas T., additional, Whelan, Harry T., additional, Weinberg, Geoffrey A., additional, Wells, Elizabeth M., additional, Wheless, James W., additional, Wirrell, Elaine C., additional, Wisoff, Jeffrey H., additional, Wolf, Nicole I., additional, Wolfe, Gil I., additional, Wright, F. Virginia, additional, Wycliffe, Nathaniel D., additional, Yang, Michele L., additional, Yuskaitis, Christopher J., additional, Zoghbi, Huda Y., additional, and Zupanc, Mary L., additional

Published
2017
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29. Natural history of infantile‐onset spinal muscular atrophy

Author

Kolb, Stephen J., Coffey, Christopher S., Yankey, Jon W., Krosschell, Kristin, Arnold, W. David, Rutkove, Seward B., Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Finkel, Richard, Iannaccone, Susan T., Kaye, Edward, Kingsley, Allison, Renusch, Samantha R., McGovern, Vicki L., Wang, Xueqian, Zaworski, Phillip G., Prior, Thomas W., Burghes, Arthur H.M., Bartlett, Amy, and Kissel, John T.

Published
2017
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30. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Author

Finkel, Richard S., Mercuri, Eugenio, Darras, Basil T., Connolly, Anne M., Kuntz, Nancy L., Kirschner, Janbernd, Chiriboga, Claudia A., Saito, Kayoko, Servais, Laurent, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Már, Montes, Jacqueline, Glanzman, Allan M., Bishop, Kathie, Zhong, Z. John, Gheuens, Sarah, Bennett, C. Frank, Schneider, Eugene, Farwell, Wildon, and De Vivo, Darryl C.

Published
2017
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34. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Author

Lovric, Svjetlana, Goncalves, Sara, Gee, Heon Yung, Oskouian, Babak, Srinivas, Honnappa, Choi, Won-Il, Shril, Shirlee, Ashraf, Shazia, Tan, Weizhen, Rao, Jia, Airik, Merlin, Schapiro, David, Braun, Daniela A., Sadowski, Carolin E., Widmeier, Eugen, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Girik, Vladimir, Capitani, Guido, Suh, Jung H., Lachaussée, Noëlle, Arrondel, Christelle, Patat, Julie, Gribouval, Olivier, Furlano, Monica, Boyer, Olivia, Schmitt, Alain, Vuiblet, Vincent, Hashmi, Seema, Wilcken, Rainer, Bernier, Francois P., Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan E., Midgley, Julian P., Wright, Nicola, Majewski, Jacek, Zenker, Martin, Schaefer, Franz, Kuss, Navina, Greil, Johann, Giese, Thomas, Schwarz, Klaus, Catheline, Vilain, Schanze, Denny, Franke, Ingolf, Sznajer, Yves, Truant, Anne S., Adams, Brigitte, Désir, Julie, Biemann, Ronald, Pei, York, Ars, Elisabet, Lloberas, Nuria, Madrid, Alvaro, Dharnidharka, Vikas R., Connolly, Anne M., Willing, Marcia C., Cooper, Megan A., Lifton, Richard P., Simons, Matias, Riezman, Howard, Antignac, Corinne, Saba, Julie D., and Hildebrandt, Friedhelm

Published
2017
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37. Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy

Author

Landfeldt, Erik, primary, Iff, Joel, additional, Henricson, Erik, additional, Vishwanathan, V., additional, Chidambaranathan, S., additional, Biggar, W. Douglas, additional, McAdam, Laura C., additional, Mah, Jean K., additional, Tulinius, Mar, additional, Cnaan, Avital, additional, Morgenroth, Lauren P., additional, Leshner, Robert, additional, TesiRocha, Carolina, additional, Thangarajh, Mathula, additional, Duong, Tina, additional, Kornberg, Andrew, additional, Ryan, Monique, additional, Nevo, Yoram, additional, Dubrovsky, Alberto, additional, Clemens, Paula R., additional, Abdel-Hamid, Hoda, additional, Connolly, Anne M., additional, Pestronk, Alan, additional, Teasley, Jean, additional, Bertorini, Tulio E., additional, Webster, Richard, additional, Kolski, Hanna, additional, Kuntz, Nancy, additional, Driscoll, Sherilyn, additional, Bodensteiner, John B., additional, Carlo, Jose, additional, Gorni, Ksenija, additional, Lotze, Timothy, additional, Day, John W., additional, Karachunski, Peter, additional, Henricson, Erik K., additional, Abresch, Richard T., additional, Joyce, Nanette C., additional, and McDonald, Craig M., additional

Published
2021
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39. Validity and Reliability of the Neuromuscular Gross Motor Outcome

Author

Alfano, Lindsay N., primary, Iammarino, Megan A., additional, Reash, Natalie F., additional, Powers, Brenna R., additional, Shannon, Kiana, additional, Connolly, Anne M., additional, Waldrop, Megan A., additional, Noritz, Garey H., additional, Shell, Richard, additional, Tsao, Chang-Yong, additional, Flanigan, Kevin M., additional, Mendell, Jerry R., additional, and Lowes, Linda P., additional

Published
2021
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40. Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies

Author

Villar-Quiles, Rocío N., primary, Donkervoort, Sandra, additional, de Becdelièvre, Alix, additional, Gartioux, Corine, additional, Jobic, Valérie, additional, Foley, A. Reghan, additional, McCarty, Riley M., additional, Hu, Ying, additional, Menassa, Rita, additional, Michel, Laurence, additional, Gousse, Gaelle, additional, Lacour, Arnaud, additional, Petiot, Philippe, additional, Streichenberger, Nathalie, additional, Choumert, Ariane, additional, Declerck, Léa, additional, Urtizberea, J.A., additional, Sole, Guilhem, additional, Furby, Alain, additional, Cérino, Matthieu, additional, Krahn, Martin, additional, Campana- Salort, Emmanuelle, additional, Ferreiro, Ana, additional, Eymard, Bruno, additional, Bönnemann, Carsten G., additional, Bharucha-Goebel, Diana, additional, Sumner, Charlotte J., additional, Connolly, Anne M., additional, Richard, Pascale, additional, Allamand, Valérie, additional, Métay, Corinne, additional, and Stojkovic, Tanya, additional

Published
2021
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41. Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study

Author

Rudnicki, Stacy A., primary, Andrews, Jinsy A., additional, Duong, Tina, additional, Cockroft, Bettina M., additional, Malik, Fady I., additional, Meng, Lisa, additional, Wei, Jenny, additional, Wolff, Andrew A., additional, Genge, Angela, additional, Johnson, Nicholas E., additional, Tesi-Rocha, Carolina, additional, Connolly, Anne M., additional, Darras, Basil T., additional, Felice, Kevin, additional, Finkel, Richard S., additional, Shieh, Perry B., additional, Mah, Jean K., additional, Statland, Jeffrey, additional, Campbell, Craig, additional, Habib, Ali A., additional, Kuntz, Nancy L., additional, Oskoui, Maryam, additional, and Day, John W., additional

Published
2021
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42. Findings from the Longitudinal CINRG Becker Natural History Study

Author

Clemens, Paula R., Gordish-Dressman, Heather, Niizawa, Gabriela, Gorni, Ksenija, Guglieri, Michela, Connolly, Anne M., Wicklund, Matthew, Bertorini, Tulio, Mah, Jean, Thangarajh, Mathula, Smith, Edward C., Kuntz, Nancy L., McDonald, Craig M., Henricson, Erik, Upadhyayula, S, Byrne, Barry, Manousakis, Georgios, Harper, Amy, Iannaccone, Susan, and Dang, Utkarsh J.

Abstract

Becker muscular dystrophy is an X-linked, genetic disorder causing progressive degeneration of skeletal and cardiac muscle, with a widely variable phenotype. A 3-year, longitudinal, prospective dataset contributed by patients with confirmed Becker muscular dystrophy was analyzed to characterize the natural history of this disorder. A better understanding of the natural history is crucial to rigorous therapeutic trials. A cohort of 83 patients with Becker muscular dystrophy (5–75 years at baseline) were followed for up to 3 years with annual assessments. Muscle and pulmonary function outcomes were analyzed herein. Age-stratified statistical analysis and modeling were conducted to analyze cross-sectional data, time-to-event data, and longitudinal data to characterize these clinical outcomes. Deletion mutations of dystrophin exons 45–47 or 45–48 were most common. Subgroup analysis showed greater pairwise association between motor outcomes at baseline than association between these outcomes and age. Stronger correlations between outcomes for adults than for those under 18 years were also observed. Using cross-sectional binning analysis, a ceiling effect was seen for North Star Ambulatory Assessment but not for other functional outcomes. Longitudinal analysis showed a decline in percentage predicted forced vital capacity over the life span. There was relative stability or improved median function for motor functional outcomes through childhood and adolescence and decreasing function with age thereafter. There is variable progression of outcomes resulting in significant heterogeneity of the clinical phenotype of Becker muscular dystrophy. Disease progression is largely manifest in adulthood. There are implications for clinical trial design revealed by this longitudinal analysis of a Becker natural history dataset.

Published
2023
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43. Moving Beyond the 2018 Minimum International Care Considerations for Osteoporosis Management in Duchenne Muscular Dystrophy (DMD): Meeting Report from the 3rd International Muscle-Bone Interactions Meeting 7th and 14th November 2022

Author

Phung, Kim, Crabtree, Nicola, Connolly, Anne M., Furlong, Pat, Hoffman, Eric P., Jackowski, Stefan A., Jayash, Soher Nagi, Johnson, Alex, Koujok, Khaldoun, Munns, Craig F., Niks, Erik, Rauch, Frank, Schrader, Rachel, Turner, Cathy, Vroom, Elizabeth, Weber, David R., Wong, Brenda L., Guglieri, Michela, Ward, Leanne M., and Wong, Sze Choong

Published
2023
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47. OUTCOME RELIABILITY IN NON-AMBULATORY BOYS/MEN WITH DUCHENNE MUSCULAR DYSTROPHY

Author

CONNOLLY, ANNE M., MALKUS, ELIZABETH C., MENDELL, JERRY R., FLANIGAN, KEVIN M., MILLER, PHILIP J., SCHIERBECKER, JEANINE R., SIENER, CATHERINE A., GOLUMBEK, PAUL T., ZAIDMAN, CRAIG M., MCDONALD, CRAIG M., JOHNSON, LINDA, NICORICI, ALINA, KARACHUNSKI, PETER I., DAY, JOHN W., KELECIC, JASON M., LOWES, LINDA P., ALFANO, LINDSAY N., DARRAS, BASIL T., KANG, PETER B., QUIGLEY, JANET, PASTERNAK, AMY E., and FLORENCE, JULAINE M.

Published
2015
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48. Treatment for Spinal Muscular Atrophy Using Onasemnogene Abeparvovec.

Author

Bekircan-Kurt, Can Ebru, Waldrop, Megan A., Connolly, Anne M., and Mendell, Jerry R.

Subjects
SPINAL muscular atrophy, GENE therapy, THERAPEUTICS, JUVENILE diseases, PROGNOSIS
Abstract

Spinal muscular atrophy (SMA) is the most common cause of death in infancy. Recently introduced molecular-based approaches have changed the poor prognosis, saved lives and improved the quality of life for those affected with SMA. Gene therapy uses an adeno-associated virus (AAV) to deliver and replace the mutant survival of motor neuron (SMN) genes, SMN1 and SMN2. This review describes the development, relative safety and efficacy of intravenously delivered AAV for SMA type 1 and the intrathecal delivery for SMA type 2. For SMA, viral immunosuppressive treatment and AAV doses never used in clinical research or practice were required for success. As a prototype, the approach has greatly influenced the development of treatment for other childhood and adult diseases. Two additional pharmacologic agents, nusinersen and risdiplam, are clinically approved as alternative treatments. Both use antisense oligonucleotides and are briefly described in this review. [ABSTRACT FROM AUTHOR]

Published
2022
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50. Ataluren treatment of patients with nonsense mutation dystrophinopathy

Author

Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo P., Connolly, Anne M., Day, John W., Flanigan, Kevin M., Goemans, Nathalie, Jones, Kristi J., Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James B., Russman, Barry, Ryan, Monique M., Tulinius, Mar, Voit, Thomas, Moore, Steven A., Lee Sweeney, H., Abresch, Richard T., Coleman, Kim L., Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan M., Henricson, Erik, Barth, Jay, Elfring, Gary L., Reha, Allen, Spiegel, Robert J., Oʼdonnell, Michael W., Peltz, Stuart W., and Mcdonald, Craig M.

Published
2014
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