Genes for autosomal recessive cerebellar ataxia: order from chaos?

Genes for autosomal recessive cerebellar ataxia: order from chaos?

Bibliografische gegevens
Hoofdauteurs:	Nemeth, A, Dunne, E, Bomont, P, Moreira, M, Bochukova, E, Huson, S, Taylor, A, Koenig, M
Formaat:	Journal article
Gepubliceerd in:	2001

Gelijkaardige items

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
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Autosomal recessive cerebellar ataxias
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Autosomal recessive cerebellar ataxia caused by mutations in the <it>PEX2 </it>gene
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Bringing light into the darkness: autosomal recessive cerebellar ataxia due to a recessive mutation in the SEPSECS gene
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Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
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Autosomal recessive ataxias: a new gene - aprataxin - responsible for ataxia-ocular apraxia 1, and a new locus on 9q34
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SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment
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Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed
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Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein.
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Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features
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UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.
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Autosomal dominant cerebellar ataxia type III: No evidence for a large pathological CAG repeat expansion in the SCA 11 gene.
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Clinical Phenotypes of Autosomal Recessive Ataxias
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Zebrafish Models of Autosomal Recessive Ataxias
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Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene
door: Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
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Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review
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Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias
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Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings
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The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
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Contribution to clinical characterization of autosomal recessive hereditary ataxias
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Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia
door: M. Arias
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The future of diagnostics in Cerebellar Ataxias
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Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
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More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes
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Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family
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Case report of autosomal recessive spastic ataxia of Charlevoix-Saguenay
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A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia
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Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the Gene
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Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes
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A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I
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A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
door: Kishin Koh, et al.
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SACS gene-related autosomal recessive spastic ataxia of Charlevoix-Saguenay from South India
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Autosomal recessive ataxias: 20 types, and counting Ataxias autossômicas recessivas: 20 tipos e muito mais
door: Emília Katiane Embiruçu, et al.
Gepubliceerd in: (2009-12-01)

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay Secondary to a Novel Mutation in the SACS Gene
door: Akhil Sahib, et al.
Gepubliceerd in: (2024-10-01)

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20
door: Yuqi Shao, et al.
Gepubliceerd in: (2024-04-01)

A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review
door: Ping-I Chiang, et al.
Gepubliceerd in: (2022-01-01)

R-Loops in proliferating cells but not in the brain : implications for AOA2 and other autosomal recessive ataxias
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R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias.
door: Abrey J Yeo, et al.
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Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain
door: M. Arias, et al.
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A rare case of spinocerebellar ataxia autosomal recessive 21 presented with liver disease
door: Narges Zare, et al.
Gepubliceerd in: (2023-01-01)