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BMC Neurology, ISSN 1471-2377, 01/2018, Volume 18, Issue 1, pp. 3 - 8
Background: Spinocerebellar ataxia (SCA) subtypes are often caused by expansions in non-coding regions of genes like SCAB, SCA10, SCA12 and SCA.36. Other... 
Repeat expansions | SCA8 | Fxtas | Spinocerebellar ataxia | C9orf72 | DOMINANT CEREBELLAR ATAXIAS | PARKINSONISM | SPINOCEREBELLAR-ATAXIA | POPULATIONS | GENETIC CAUSE | CARRIERS | CLINICAL NEUROLOGY | FMR1 PREMUTATION | RARE CAUSE | HEXANUCLEOTIDE REPEAT | MALES | Care and treatment | Gene mutations | Development and progression | Genetic aspects | Gene expression | Health aspects
Journal Article
Journal of neurology, ISSN 0340-5354, 2013, Volume 260, Issue 6, pp. 1504 - 1510
Journal Article
Journal Article
Molecular Syndromology, ISSN 1661-8769, 04/2016, Volume 7, Issue 1, pp. 26 - 31
Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations in ECM1. Nonsense and missense mutations are the most common... 
Original Article | Genodermatosis | Urbach-Wiethe syndrome | Splice site mutation | ECM1 | Lipoid proteinosis | Original
Journal Article
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2017, Volume 56, pp. 213.e1 - 213.e5
Journal Article
Muscle & Nerve, ISSN 0148-639X, 01/2014, Volume 49, Issue 1, pp. 144 - 145
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2018, Volume 9, Issue 2, pp. 100 - 109
Myopathies comprise a heterogeneous group of disorders characterized by variable phenotypes. The increasing use of next-generation sequencing allows... 
SLC39A13 | Next-generation sequencing | ZIP13 | SCD-EDS | Spondylocheirodysplasia EDS-like syndrome | Exome sequencing | Original
Journal Article
Journal Article