Results 271 to 276 of about 33,965 (276)

Spectrin mutations cause spinocerebellar ataxia type 5

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

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  

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

Nature Genetics, 2001
Clara Barbot, Paula Coutinho, Jorge Sequeiros   +2 more
exaly  

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

Nature Genetics, 2001
Osamu Onodera, Izumi Kawachi, Sumio Sugano   +2 more
exaly  

Faculty Opinions recommendation of Autophosphorylation of ataxia-telangiectasia mutated is regulated by protein phosphatase 2A.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2004
openaire   +1 more source