Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

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http://www.wikidata.org/entity/Q27301278
High-Throughput Screening for Ligands of the HEPN Domain of SacsinAbsence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutationA reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix SaguenayRapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar DegenerationNovel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.Transient Developmental Purkinje Cell Axonal Torpedoes in Healthy and Ataxic Mouse Cerebellum.SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice.New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.DNAJ Proteins in neurodegeneration: essential and protective factors.From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-SaguenayAltered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACSStructures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations
P2860

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

Item
http://www.wikidata.org/entity/Q27301278
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2014 nî lūn-bûn
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2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
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2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2014年の論文
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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
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2014年论文
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name
Sacs knockout mice present pat ...... ataxia of Charlevoix-Saguenay
@ast
Sacs knockout mice present pat ...... ataxia of Charlevoix-Saguenay
@en
Sacs knockout mice present pat ...... ataxia of Charlevoix-Saguenay
@nl
type
label
Sacs knockout mice present pat ...... ataxia of Charlevoix-Saguenay
@ast
Sacs knockout mice present pat ...... ataxia of Charlevoix-Saguenay
@en
Sacs knockout mice present pat ...... ataxia of Charlevoix-Saguenay
@nl
prefLabel
Sacs knockout mice present pat ...... ataxia of Charlevoix-Saguenay
@ast
Sacs knockout mice present pat ...... ataxia of Charlevoix-Saguenay
@en
Sacs knockout mice present pat ...... ataxia of Charlevoix-Saguenay
@nl
P1433
P1476
P2093
P2860
P304
P31
P3181
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P3181
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P1433
P1476
Sacs knockout mice present pat ...... ataxia of Charlevoix-Saguenay
@en
P2093
P2860
P304
P31
P3181
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932