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Journal of Neurology|April 12, 2017
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical researchLibby Wood, Isabell Cordts, Antonio Atalaia, 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.
Plos One|March 22, 2017
Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up studyMark J Hamilton, Yvonne Robb, Sarah Cumming, et al.
Plos One|April 7, 2017
Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up studyMark J Hamilton, Yvonne Robb, Sarah Cumming, 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.
Journal of Neurology, Neurosurgery, and Psychiatry|April 4, 2014
Two recurrent mutations are associated with GNE myopathy in the North of BritainAmina Chaouch, Kathryn M Brennan, Judith Hudson, et al.
Nature Genetics|December 29, 2009
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CMichaela Auer-Grumbach, Andrea Olschewski, Lea Papić, et al.
Neurology. Clinical Practice|December 28, 2018
Consensus-based care recommendations for adults with myotonic dystrophy type 1Tetsuo Ashizawa, Cynthia Gagnon, William J Groh, et al.
Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.
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