Results 161 to 170 of about 3,973 (174)

Friedreich’s Ataxia

2017
Sunjay Parmar, Pamela Shaw
openaire   +1 more source

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  

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  

Friedreich Ataxia

2023
openaire   +1 more source

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  

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  

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Nature Genetics, 2002
Cornelius F Boerkoel
exaly  

Spectrin mutations cause spinocerebellar ataxia type 5

Nature Genetics, 2006
Karen R Armbrust, Giovanni Stevanin, Alexis Brice   +2 more
exaly  

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

Lancet Neurology, The, 2013
exaly  

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial

Lancet Neurology, The, 2007
exaly