Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
about
J protein mutations and resulting proteostasis collapseSacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-SaguenayThiamine status in inherited degenerative ataxiasNovel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-SaguenayDevelopmental and degenerative features in a complicated spastic paraplegia.Hereditary spastic paraparesis: a review of new developments.Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.Screening and analysis of PoAkirin1 and two related genes in response to immunological stimulants in the Japanese flounder (Paralichthys olivaceus).Friedreich's ataxia. A clinical review with neurophysiological and echocardiographic findings.Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.Neurodegeneration: Trouble in the cell's powerhouse.Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxiaNovel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.Molecular chaperones and neuronal proteostasis.ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxiaSNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.p62/sequestosome-1 knockout delays neurodegeneration induced by Drp1 loss.DNAJ Proteins in neurodegeneration: essential and protective factors.An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-upFrom 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 mutationsAutosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish ChildAssessment of the impact of an exercise program on the physical and functional capacity in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay: An exploratory study
P2860
Q21129474-D996CA74-2886-414B-85E4-8E95535B63F1Q27301278-05B54D6C-92B1-4745-B1F5-DA795757B8D3Q28319037-50F28EAB-F6EB-4D6F-9383-ADC420EE5D82Q28533920-A5D7A250-492C-42A5-8C8D-F3F739E6F8A7Q30497998-DCF647DE-3B39-4FA2-A224-1895162C53F2Q33969651-044013A3-918E-49D4-B938-CC5B2913DD71Q34389112-B1790393-3ECF-416C-A6A8-3752A2302F8DQ34709045-7A5BCC62-4F32-4995-881A-0178B0C994B1Q35117896-85BE0D50-3CB2-4E24-88E5-F79F4CAD46E0Q35661835-119BB5C6-3D1A-45A0-9B51-BB674F3DF771Q35749838-98477295-DB52-46E5-9C6A-6C6CC6867C8CQ36346537-C5EA2DC5-9E50-4A4E-90B4-35C9EC919EBFQ36560313-4242E2C7-839C-4B43-86AD-0445073460AEQ36776172-647136A3-6719-4B58-A722-563E8DDD9A25Q37011138-C84D6CEA-FA54-433D-AA45-690FB22BE4A1Q37466323-E450BEAF-726A-4308-AC1E-1FFC55252F00Q38377410-DC901E54-1523-48B8-94E1-17354150363DQ39628578-2E7FFF69-45CB-476D-9126-FF090B82A512Q42335990-45243BBF-47AE-448B-B71B-94B20352B732Q42655753-5677706D-A11E-4DA0-BAA2-D34334DEF6FAQ42718494-88E1770F-08DC-4357-B046-4F824E13699BQ50990704-55E1D93F-0E90-449B-8E20-361C74F9DFFAQ52420571-6AAA44CD-173C-47A6-B374-57390E745B62Q57039589-16173AF4-A57B-4845-91CA-E61F6989740FQ57039687-B63B3A29-208C-4635-B5DA-D85685D0EFE5Q57039842-2E51641B-88AD-49AE-B85D-836B1523E26EQ57039976-633F0CF9-DAFA-40C6-81B5-E7B1F06E6EFAQ57142226-B13B3773-E5B2-4247-A57E-CE580EE85D81Q58805006-C7DB3D72-9D21-4D98-8E59-633176AE4759
P2860
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
description
1978 nî lūn-bûn
@nan
1978 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1978 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1978年の論文
@ja
1978年論文
@yue
1978年論文
@zh-hant
1978年論文
@zh-hk
1978年論文
@zh-mo
1978年論文
@zh-tw
1978年论文
@wuu
name
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
@ast
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
@en
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
@nl
type
label
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
@ast
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
@en
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
@nl
prefLabel
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
@ast
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
@en
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
@nl
P2093
P1476
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
@en
P2093
Bouchard R
Bouchard RW
P577
1978-02-01T00:00:00Z