Results 341 to 350 of about 308,172 (351)

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  

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  

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  

Spectrin mutations cause spinocerebellar ataxia type 5

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

Ataxia-Telangiectasia

Physical Therapy, 1968
openaire   +2 more sources

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  

Inherited ataxias

Current Opinion in Neurology, 1995
openaire   +2 more sources