ELOVL5 mutations cause spinocerebellar ataxia 38

ELOVL5 mutations cause spinocerebellar ataxia 38

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http://www.wikidata.org/entity/Q24301387
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)Rom2-dependent phosphorylation of Elo2 controls the abundance of very long-chain fatty acids.Survival and severity in dominant cerebellar ataxias.Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias.Desaturase and elongase-limiting endogenous long-chain polyunsaturated fatty acid biosynthesis.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice.A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.Polyglutamine spinocerebellar ataxias - from genes to potential treatments.A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family.
P2860

ELOVL5 mutations cause spinocerebellar ataxia 38

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http://www.wikidata.org/entity/Q24301387
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2014 nî lūn-bûn
@nan
2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
ELOVL5 mutations cause spinocerebellar ataxia 38
@ast
ELOVL5 mutations cause spinocerebellar ataxia 38
@en
ELOVL5 mutations cause spinocerebellar ataxia 38
@en-gb
ELOVL5 mutations cause spinocerebellar ataxia 38
@nl
type
label
ELOVL5 mutations cause spinocerebellar ataxia 38
@ast
ELOVL5 mutations cause spinocerebellar ataxia 38
@en
ELOVL5 mutations cause spinocerebellar ataxia 38
@en-gb
ELOVL5 mutations cause spinocerebellar ataxia 38
@nl
prefLabel
ELOVL5 mutations cause spinocerebellar ataxia 38
@ast
ELOVL5 mutations cause spinocerebellar ataxia 38
@en
ELOVL5 mutations cause spinocerebellar ataxia 38
@en-gb
ELOVL5 mutations cause spinocerebellar ataxia 38
@nl
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P2860
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P50
P5008
P577
P5875
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P921
P932
P3181
P356
P1433
P1476
ELOVL5 mutations cause spinocerebellar ataxia 38
@en
P2093
P2860
P304
P31
P3181
P356
10.1016/J.AJHG.2014.07.001
P407
P433
P478
P50
P5008
P577
P5875
P698
P921
P932