Genes for autosomal recessive cerebellar ataxia: order from chaos?

Genes for autosomal recessive cerebellar ataxia: order from chaos?

书目详细资料
Main Authors:	Nemeth, A, Dunne, E, Bomont, P, Moreira, M, Bochukova, E, Huson, S, Taylor, A, Koenig, M
格式:	Journal article
出版:	2001

相似书籍

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
由: Németh, A, et al.
出版: (2000)

Autosomal recessive cerebellar ataxias
由: Palau Francesc, et al.
出版: (2006-11-01)

Autosomal recessive cerebellar ataxia caused by mutations in the <it>PEX2 </it>gene
由: Wanders Ronald J, et al.
出版: (2011-03-01)

Bringing light into the darkness: autosomal recessive cerebellar ataxia due to a recessive mutation in the SEPSECS gene
由: Á. Martínez-Martín, et al.
出版: (2022-10-01)

Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
由: Yuting Shi, et al.
出版: (2013-01-01)

Autosomal recessive ataxias: a new gene - aprataxin - responsible for ataxia-ocular apraxia 1, and a new locus on 9q34
由: Moreira, M, et al.
出版: (2002)

SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment
由: Lauren Swan, et al.
出版: (2018-08-01)

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed
由: Jose Luiz Pedroso, et al.
出版: (2013-06-01)

Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein.
由: Izatt, L, et al.
出版: (2004)

Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features
由: Diego Lopergolo, et al.
出版: (2024-02-01)

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.
由: Ranhui Duan, et al.
出版: (2016-01-01)

Autosomal dominant cerebellar ataxia type III: No evidence for a large pathological CAG repeat expansion in the SCA 11 gene.
由: Worth, P, et al.
出版: (1999)

Clinical Phenotypes of Autosomal Recessive Ataxias
由: J Gordon Millichap
出版: (2007-05-01)

Zebrafish Models of Autosomal Recessive Ataxias
由: Ana Quelle-Regaldie, et al.
出版: (2021-04-01)

Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene
由: Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
出版: (2020-03-01)

Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review
由: Sze Yuen Lew, et al.
出版: (2022-06-01)

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias
由: Hao-Ling Cheng, et al.
出版: (2021-10-01)

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings
由: Rie Saito, et al.
出版: (2020-08-01)

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
由: Andreas Traschütz, et al.
出版: (2021-06-01)

Contribution to clinical characterization of autosomal recessive hereditary ataxias
由: Emília Katiane Embiruçu
出版: (2011-08-01)

Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia
由: M. Arias
出版: (2019-05-01)

The future of diagnostics in Cerebellar Ataxias
由: Nemeth, A
出版: (2010)

Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
由: François-Xavier Borruat, et al.
出版: (2017-10-01)

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes
由: Toni S. Pearson
出版: (2016-07-01)

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family
由: Hussein Algahtani, et al.
出版: (2021-01-01)

Case report of autosomal recessive spastic ataxia of Charlevoix-Saguenay
由: Suresh Pandi, et al.
出版: (2014-01-01)

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia
由: Zamba-Papanicolaou Eleni, et al.
出版: (2008-04-01)

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the Gene
由: Rohan Sharma MD, et al.
出版: (2022-12-01)

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes
由: Isaac M. Adanyeguh, et al.
出版: (2018-01-01)

A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I
由: David Razafsky, et al.
出版: (2015-06-01)

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
由: Kishin Koh, et al.
出版: (2022-07-01)

SACS gene-related autosomal recessive spastic ataxia of Charlevoix-Saguenay from South India
由: M Suraj Menon, et al.
出版: (2016-01-01)

Autosomal recessive ataxias: 20 types, and counting Ataxias autossômicas recessivas: 20 tipos e muito mais
由: Emília Katiane Embiruçu, et al.
出版: (2009-12-01)

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

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20
由: Yuqi Shao, et al.
出版: (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
由: Ping-I Chiang, et al.
出版: (2022-01-01)

R-Loops in proliferating cells but not in the brain : implications for AOA2 and other autosomal recessive ataxias
由: Yeo, Abrey J., et al.
出版: (2014)

R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias.
由: Abrey J Yeo, et al.
出版: (2014-01-01)

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain
由: M. Arias, et al.
出版: (2022-05-01)

A rare case of spinocerebellar ataxia autosomal recessive 21 presented with liver disease
由: Narges Zare, et al.
出版: (2023-01-01)