Results 161 to 170 of about 7,170 (177)

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study

Lancet, The, 2014
Cihangir Yandim, Stavros Athanasopoulos, Pui P Law   +2 more
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  

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

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

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

Lancet Neurology, The, 2013
Alessia Micalizzi, Enza Maria Valente
exaly  

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Lancet Neurology, The, 2015
Heike Jacobi, Sophie Tezenas du Montcel, Peter Bauer   +2 more
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  

Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial

Lancet Neurology, The, 2015
Silvia Romano, Giulia Coarelli, Luca Leonardi   +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  

Sporadic ataxia with adult onset: classification and diagnostic criteria

Lancet Neurology, The, 2010
Thomas Klockgether
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