Results 271 to 280 of about 114,557 (289)

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

Nature Reviews Molecular Cell Biology, 2008
Martin F Lavin
exaly  

RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia

Nature Medicine, 2004
Qinwen Mao, Harry T Orr, Robert M Kotin
exaly  

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  

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  

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  

The Neuropathology of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.

Advances in Experimental Medicine and Biology, 2018
A. Koeppen
semanticscholar   +1 more source