Myasthenic syndromes due to defects in COL13A1 and in the N-linked glycosylation pathway
Author:
Affiliation:
1. Neurosciences Group, Nuffield Department of Clinical Neuroscience; Weatherall Institute of Molecular Medicine; The John Radcliffe Oxford UK
2. Nuffield Department of Clinical Neuroscience; Level 3 The West Wing; The John Radcliffe Oxford UK
Funder
Medical Research Council
Publisher
Wiley
Subject
History and Philosophy of Science,General Biochemistry, Genetics and Molecular Biology,General Neuroscience
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/nyas.13576/fullpdf
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3. LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin;Maselli;Hum. Genet.,2012
4. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy;Nicole;Brain,2014
5. MUSK, a new target for mutations causing congenital myasthenic syndrome;Chevessier;Hum. Mol. Genet.,2004
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1. The CMS19 disease model specifies a pivotal role for collagen XIII in bone homeostasis;Scientific Reports;2022-04-07
2. Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report;Journal of Medical Case Reports;2022-03-26
3. Comprehensive Transcriptome Analysis Reveals the Role of lncRNA in Fatty Acid Metabolism in the Longissimus Thoracis Muscle of Tibetan Sheep at Different Ages;Frontiers in Nutrition;2022-03-14
4. Myasthenia Gravis: From the Viewpoint of Pathogenicity Focusing on Acetylcholine Receptor Clustering, Trans-Synaptic Homeostasis and Synaptic Stability;Frontiers in Molecular Neuroscience;2020-05-28
5. Collagen XIII and Other ECM Components in the Assembly and Disease of the Neuromuscular Junction;The Anatomical Record;2019-03
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