Results 251 to 259 of about 80,232 (259)

Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management

Nature Reviews Neurology, 2016
Randi J Hagerman, Paul J Hagerman
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  

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

Nature Genetics, 2006
Tasnim Chagtai, Gareth Evans, Diana M Eccles   +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  

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  

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  

Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease

Nature Genetics, 2001
Vuk Stambolic, Akira Suzuki, Ming-Sound Tsao   +2 more
exaly