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Journal of Neurology, ISSN 0340-5354, 02/2019, Volume 266, Issue 2, pp. 530 - 532
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 04/2015, Volume 1852, Issue 4, pp. 594 - 606
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 544 - 557
Spinocerebellar ataxia type 31 (SCA31) is an adult-onset autosomal-dominant neurodegenerative disorder showing progressive cerebellar ataxia mainly affecting... 
ADCA TYPE-III | TRANSCRIPTS | RNA | GENE | MYOTONIC-DYSTROPHY TYPE-2 | HUMAN-CELLS | DISEASE | GENETICS & HEREDITY | FUNCTIONAL-CHARACTERIZATION | DOMINANT CEREBELLAR-ATAXIA | LOCUS | Satellite DNA | Causes of | Genetic aspects | Nucleotides | Research | Spinocerebellar ataxia
Journal Article
Laboratory Investigation, ISSN 0023-6837, 2019, Volume 99, Issue 7, pp. 929 - 942
More than 40 different neurological diseases are caused by microsatellite repeat expansions. Since the discovery of repeat-associated non-AUG (RAN) translation... 
MEDICINE, RESEARCH & EXPERIMENTAL | C9ORF72 HEXANUCLEOTIDE REPEAT | TREMOR/ATAXIA SYNDROME | MYOTONIC-DYSTROPHY TYPE-2 | CGG REPEAT | FRAGILE-X PREMUTATION | DIPEPTIDE-REPEAT | INTRANUCLEAR INCLUSIONS | PATHOLOGY | TO-CELL TRANSMISSION | HUNTINGTONS-DISEASE | RNA FOCI | Proteins | Neurological diseases | Pathology | Brain | Translation | Microsatellites | Ran protein | Antisense | Nucleotides | Diseases
Journal Article
Muscle & Nerve, ISSN 0148-639X, 06/2018, Volume 57, Issue 6, pp. 1014 - 1017
ABSTRACT Introduction: The p.A1156T mutation alters the function of the voltage‐gated sodium channel Nav1.4 on the muscle sarcolemma, causing a channelopathy... 
pain | postal survey | SCN4A | myalgia | channelopathy | p.A1156T | CRITERIA | MYOTONIC-DYSTROPHY TYPE-2 | NEUROSCIENCES | CLINICAL NEUROLOGY | SKELETAL-MUSCLE | FIBROMYALGIA | FAMILIES | Surveys | Fibromyalgia | Sarcolemma | Sodium channels | Channelopathy | Myotonia | Muscles | Mental depression | Quality of life | Pain | Sodium | Sodium channels (voltage-gated) | Mutation | Paralysis
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 04/2018, Volume 115, Issue 16, pp. 4234 - 4239
Journal Article
Muscle & Nerve, ISSN 0148-639X, 02/2018, Volume 57, Issue 2, pp. 316 - 320
Journal Article