Results 251 to 260 of about 115,141 (275)

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Nature Genetics, 2019
Andrea Cortese, Roberto Simone, Roisin Sullivan   +2 more
exaly  

Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline

Clinical Genetics, 2016
Nielsen Os, N. Roeleveld, C. Weemaes, M. Jongmans, G. Janssens, A. Taylor, N. Hoogerbrugge, M. Willemsen   +7 more
semanticscholar   +1 more source

Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management

Nature Reviews Neurology, 2016
Randi J Hagerman, Paul J Hagerman
exaly  

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

Nature Genetics, 2006
Tasnim Chagtai, Gareth Evans, Diana M Eccles   +2 more
exaly  

More than ataxia - Movement disorders in ataxia-telangiectasia.

Parkinsonism & Related Disorders, 2018
H. Teive, C. Camargo, R. Munhoz
semanticscholar   +1 more source

A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

Nature Genetics, 2003
Victor Luis Ruiz-Perez, Christopher Woods   +1 more
exaly  

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Nature Genetics, 2001
Helene Puccio, Francesco Danilo Tiziano, Pierre Rustin   +2 more
exaly  

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Nature Genetics, 2010
Daniela Di Bella, Federico Lazzaro, Alfredo Brusco   +2 more
exaly  

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

Nature Genetics, 2004
Christine H Tranchant, Ludger Schöls, Massimo Pandolfo   +2 more
exaly  

An essential function for NBS1 in the prevention of ataxia and cerebellar defects

Nature Medicine, 2005
Ilja Demuth, Zdenko Herceg, Adriano Aguzzi   +2 more
exaly