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Genome Medicine|July 27, 2019
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case seriesJohn Taylor, Jude Craft, Edward Blair, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 6, 2016
Clinical features of the myasthenic syndrome arising from mutations in GMPPBPedro M Rodríguez Cruz, Katsiaryna Belaya, Keivan Basiri, et al.
Neuromuscular Disorders : NMD|March 29, 2011
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathiesStephanie A Robb, Caroline A Sewry, James J Dowling, et al.
Annals of Clinical and Translational Neurology|December 15, 2021
Genetic defects are common in myopathies with tubular aggregatesQiang Gang, Conceição Bettencourt, Stefen Brady, et al.
Brain : a Journal of Neurology|April 19, 2007
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromesJuliane S Müller, Agnes Herczegfalvi, Juan J Vilchez, et al.
American Journal of Human Genetics|August 24, 2004
Mutation history of the roma/gypsiesBharti Morar, David Gresham, Dora Angelicheva, et al.
European Journal of Human Genetics : EJHG|September 19, 2019
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variantSunitha Balaraju, Ana Töpf, Grace McMacken, et al.
American Journal of Human Genetics|December 3, 2015
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 ChainClare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, et al.
Brain : a Journal of Neurology|July 3, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathiesKatsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, et al.
Neuromuscular Disorders : NMD|January 12, 2023
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1Pedro M Rodríguez Cruz, Gianina Ravenscroft, Daniel Natera, et al.
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