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Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population‐based surveillance of major muscular dystrophies at four U.S. sites, 2007–2011
Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population‐based surveillance of major muscular dystrophies at four U.S. sites, 2007–2011
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Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population‐based surveillance of major muscular dystrophies at four U.S. sites, 2007–2011

Do, ThuyQuynh N. ; Street, Natalie ; Donnelly, Jennifer ; Adams, Melissa M. ; Cunniff, Christopher ; Fox, Deborah J. ; Weinert, Richard O. ; Oleszek, Joyce ; Romitti, Paul A. ; Westfield, Christina P. ; Bolen, Julie

Birth defects research, 2018-11, Vol.110 (19), p.1404-1411 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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2
Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy
Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy
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Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy

Spitali, Pietro ; Hettne, Kristina ; Tsonaka, Roula ; Sabir, Ekrem ; Seyer, Alexandre ; Hemerik, Jesse B.A. ; Goeman, Jelle J. ; Picillo, Esther ; Ergoli, Manuela ; Politano, Luisa ; Aartsma‐Rus, Annemieke

Journal of cellular and molecular medicine, 2018-04, Vol.22 (4), p.2442-2448 [Periódico revisado por pares]

England: John Wiley & Sons, Inc

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3
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials
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Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials

Maguire, Albert M ; Russell, Stephen ; Wellman, Jennifer A ; Chung, Daniel C ; Yu, Zi-Fan ; Tillman, Amy ; Wittes, Janet ; Pappas, Julie ; Elci, Okan ; Marshall, Kathleen A ; McCague, Sarah ; Reichert, Hannah ; Davis, Maria ; Simonelli, Francesca ; Leroy, Bart P ; Wright, J Fraser ; High, Katherine A ; Bennett, Jean

Ophthalmology (Rochester, Minn.), 2019-09, Vol.126 (9), p.1273-1285 [Periódico revisado por pares]

United States

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4
Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy
Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy
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Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy

Mootha, V Vinod ; Hansen, Brock ; Rong, Ziye ; Mammen, Pradeep P ; Zhou, Zhengyang ; Xing, Chao ; Gong, Xin

Investigative ophthalmology & visual science, 2017-09, Vol.58 (11), p.4579-4585 [Periódico revisado por pares]

United States: The Association for Research in Vision and Ophthalmology

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5
FKRP-related muscular dystrophy responsive to immunotherapy
FKRP-related muscular dystrophy responsive to immunotherapy
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FKRP-related muscular dystrophy responsive to immunotherapy

Waller, S ; Stockwell, J ; Tay, T ; Pamphlett, R ; Beuzeville, S ; Huynh, W

Muscle & nerve, 2024-06, Vol.69 (6), p.735-737 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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6
Stem Cell–Derived Cardiomyocytes and Beta-Adrenergic Receptor Blockade in Duchenne Muscular Dystrophy Cardiomyopathy
Stem Cell–Derived Cardiomyocytes and Beta-Adrenergic Receptor Blockade in Duchenne Muscular Dystrophy Cardiomyopathy
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Stem Cell–Derived Cardiomyocytes and Beta-Adrenergic Receptor Blockade in Duchenne Muscular Dystrophy Cardiomyopathy

Kamdar, Forum ; Das, Satyabrata ; Gong, Wuming ; Klaassen Kamdar, André ; Meyers, Tatyana A. ; Shah, Pruthvi ; Ervasti, James M. ; Townsend, DeWayne ; Kamp, Timothy J. ; Wu, Joseph C. ; Garry, Mary G. ; Zhang, Jianyi ; Garry, Daniel J.

Journal of the American College of Cardiology, 2020-03, Vol.75 (10), p.1159-1174 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Mexiletine in myotonic dystrophy type-1: A randomized, double-blind, placebo-controlled trial
Mexiletine in myotonic dystrophy type-1: A randomized, double-blind, placebo-controlled trial
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Mexiletine in myotonic dystrophy type-1: A randomized, double-blind, placebo-controlled trial

Heatwole, Chad ; Luebbe, Elizabeth ; Rosero, Spencer ; Eichinger, Katy ; Martens, William ; Hilbert, James ; Dekdebrun, Jeanne ; Dilek, Nuran ; Zizzi, Christine ; Johnson, Nicholas ; Puwanant, Araya ; Tawil, Rabi ; Schifitto, Giovanni ; Beck, Christopher A ; Richeson, J Franklin ; Zareba, Wojciech ; Thornton, Charles ; McDermott, Michael P ; Moxley, Richard

Neurology, 2021-01, Vol.96 (2), p.e228-e240 [Periódico revisado por pares]

United States: American Academy of Neurology

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8
Rhabdomyolysis featuring muscular dystrophies
Rhabdomyolysis featuring muscular dystrophies
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Rhabdomyolysis featuring muscular dystrophies

Lahoria, Rajat ; Milone, Margherita

Journal of the neurological sciences, 2016-02, Vol.361, p.29-33 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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9
Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study
Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study
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Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study

Karuntu, Jessica S. ; Nguyen, Xuan‐Thanh‐An ; Talib, Mays ; Schooneveld, Mary J. ; Wijnholds, Jan ; Genderen, Maria M. ; Schalij‐Delfos, Nicoline E. ; Klaver, Caroline C. W. ; Meester‐Smoor, Magda A. ; Born, L. Ingeborgh ; Hoyng, Carel B. ; Thiadens, Alberta A. H. J. ; Bergen, Arthur A. ; Nispen, Ruth M. A. ; Boon, Camiel J. F.

Acta ophthalmologica (Oxford, England), 2024-06, Vol.102 (4), p.469-477 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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10
Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Lemmers, Richard J.L.F ; van der Vliet, Patrick J ; Klooster, Rinse ; Sacconi, Sabrina ; Camaño, Pilar ; Dauwerse, Johannes G ; Snider, Lauren ; Straasheijm, Kirsten R ; Jan van Ommen, Gert ; Padberg, George W ; Miller, Daniel G ; Tapscott, Stephen J ; Tawil, Rabi ; Frants, Rune R ; van der Maarel, Silvère M

Science (American Association for the Advancement of Science), 2010-09, Vol.329 (5999), p.1650-1653 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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