Autosomal recessive cerebellar ataxias: the current state of affairs.
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A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machineryUBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar AtaxiaIdentification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxiaSTUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoproteinSystematic review of autosomal recessive ataxias and proposal for a classification.Genetic variation in ataxia gene ATXN7 influences cerebellar grey matter volume in healthy adults.Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
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P2860
Autosomal recessive cerebellar ataxias: the current state of affairs.
description
article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Autosomal recessive cerebellar ataxias: the current state of affairs.
@en
Autosomal recessive cerebellar ataxias: the current state of affairs.
@nl
type
label
Autosomal recessive cerebellar ataxias: the current state of affairs.
@en
Autosomal recessive cerebellar ataxias: the current state of affairs.
@nl
prefLabel
Autosomal recessive cerebellar ataxias: the current state of affairs.
@en
Autosomal recessive cerebellar ataxias: the current state of affairs.
@nl
P2093
P1476
Autosomal recessive cerebellar ataxias: the current state of affairs.
@en
P2093
B P C van de Warrenburg
B P Kremer
M A A P Willemsen
M Cluitmans
N V A M Knoers
P304
P356
10.1136/JMEDGENET-2011-100210
P407
P577
2011-08-19T00:00:00Z