Results 261 to 270 of about 33,965 (276)

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  

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  

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8

Nature Genetics, 2006
Tao Zu, Timothy J Ebner, John W Day
exaly  

Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1

Nature Medicine, 2011
Marija Cvetanovic, Hugo H Marti, Puneet Opal   +2 more
exaly