Jain Foundation

Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients

Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari et al. · Annals of Clinical and Translational Neurology · 2018 · 181 citations · Full text

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

Jordi Díaz‐Manera, Roberto Fernández‐Torrón, Jaume Llauger et al. · Journal of Neurology Neurosurgery & Psychiatry · 2018 · 111 citations · Full text

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

Wei Liu, Sander Pajusalu, Nicole J. Lake et al. · Genetics in Medicine · 2019 · 97 citations

Epidemiology, Medicine, Genetic Epidemiology +7

Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy

Rachael A. Potter, Danielle A. Griffin, Patricia Sondergaard et al. · Human Gene Therapy · 2017 · 85 citations · Full text

<i>ANO5</i>Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Anna Sárközy, Debbie Hicks, Judith A. Hudson et al. · Human Mutation · 2013 · 70 citations · Full text

Genetics, Genetic Epidemiology, Pathology +19