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Neurology. Clinical Practice|May 29, 2024
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne SyndromeGeetanjali Rajamani, Seth A Stafki, Audrey L Daugherty, et al.
Molecular Genetics & Genomic Medicine|January 29, 2019
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sitesChristine C Bruels, Chengcheng Li, Tonatiuh Mendoza, et al.
Human Molecular Genetics|June 14, 2014
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentationsStefania Di Costanzo, Anuradha Balasubramanian, Heather L Pond, et al.
Neurology|April 1, 2015
Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic MedicinePeter B Kang, Leslie Morrison, Susan T Iannaccone, et al.
The Journal of Clinical Investigation|May 3, 2014
MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptomsMatthew S Alexander, Juan Carlos Casar, Norio Motohashi, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 19, 2007
Distinctive patterns of microRNA expression in primary muscular disordersIris Eisenberg, Alal Eran, Ichizo Nishino, et al.
Neurology|October 28, 2025
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular DystrophyVolker Straub, Amanda R Clause, Sandra Donkervoort, et al.
Neurogenetics|July 13, 2010
Efficient identification of novel mutations in patients with limb girdle muscular dystrophySteven E Boyden, Mustafa A Salih, Anna R Duncan, et al.
Brain : a Journal of Neurology|February 5, 2013
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3Sheena Chew, Ravikumar Balasubramanian, Wai-Man Chan, et al.
Journal of Human Genetics|October 7, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, et al.
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