Results 331 to 340 of about 308,172 (351)

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  

Hound ataxia

Veterinary Record, 1981
A C, Palmer, R K, Medd
openaire   +3 more sources

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  

Ataxia-Telangiectasia

Archives of Ophthalmology, 1959
J L, SMITH, D G, COGAN
openaire   +2 more sources

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  

Hereditary Ataxia

Occupational Health Nursing, 1977
openaire   +2 more sources

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