Minal S. Jain

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

Perry B. Shieh, Nancy L. Kuntz, Wolfgang Müller‐Felber et al. · The Lancet Neurology · 2023 · 120 citations · Full text

Medicine, Molecular Medicine, Pharmacotherapy +15

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami et al. · Nature Communications · 2017 · 110 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

Minal S. Jain, Katherine G. Meilleur, Eunhee Kim et al. · Neurology · 2019 · 52 citations · Full text

Medicine, Biostatistics, Pediatrics +10

Correlation of phenotype with genotype and protein structure in RYR1-related disorders

Joshua J. Todd, Vatsala Sagar, Tokunbor A. Lawal et al. · Journal of Neurology · 2018 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Randomized controlled trial of <i>N</i> -acetylcysteine therapy for <i>RYR1</i> -related myopathies

Joshua J. Todd, Tokunbor A. Lawal, Jessica W. Witherspoon et al. · Neurology · 2020 · 43 citations · Full text

Pharmacy, Pharmacology, Pharmacotherapy +13