Results 121 to 130 of about 71,064 (224)

Spinocerebellar ataxia type 2 in a Turkish family

, 2007
Autosomal dominant spinocerebellar ataxias are neurodegenerative disorders that generally present in adulthood. Due to extreme expansion of the repeat size during spermatogenesis, they can also be observed in childhood. The diagnosis in childhood is very
Basak, Nazh, Huedaoglu, Orkide, Soydan, Esra, Oezgoenuel, Figen, Dirik, Eray, Yis, Uluc   +5 more
core   +1 more source

Suicidal Ideation in Spinocerebellar Ataxia

The Journal of Neuropsychiatry and Clinical Neurosciences
Suicidal ideation has not been extensively studied in spinocerebellar ataxias (SCAs). The authors examined whether individuals with SCAs have increased suicidal ideation and related factors.The authors studied patients with genetically confirmed SCAs enrolled in the Clinical Research Consortium for the Study of Cerebellar Ataxia cohort, examining the ...
Peppel, Levi, Lai, Ruo-Yah, Rummey, Christian, Opal, Puneet, Schmahmann, Jeremy D., Gomez, Christopher M., Paulson, Henry, Zesiewicz, Theresa A., Perlman, Susan, Wilmot, George, Ying, Sarah H., Onyike, Chiadi U., Bushara, Khalaf O., Geschwind, Michael D., Figueroa, Karla P., Pulst, Stefan M., Subramony, Sub H., Duquette, Antoine, Ashizawa, Tetsuo, Hamedani, Ali G., Davis, Marie Y., Srinivasan, Sharan R., Burns, Matthew R., Amokrane, Nadia, Moore, Lauren R., Shakkottai, Vikram G., Rosenthal, Liana S., Kuo, Sheng-Han, Lin, Chi-Ying R.   +28 more
openaire   +2 more sources

Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy [PDF]

, 2011
Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy. INTRODUCTION Autosomal recessive (AR) spinocerebellar ataxias constitute a heterogeneous group of neurodegenerative disorders mainly characterized by ...
De Leva, Maria Fulvia
core  

Spinocerebellar Ataxias

Neurobiology of Disease, 2000
openaire   +3 more sources

Spectrum of Dystonia in Spinocerebellar Ataxia. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Yellaturi SR, Mukherjee A, Pandey S.
europepmc   +1 more source

Assessment of microexon-associated junction usage in Parkinson's disease and spinocerebellar Ataxia type 3. [PDF]

Front Mol Neurosci
Mehnert K, Hübener-Schmid J, Admard J, Lysenkov V, Demidov G, Huridou C, Weber JJ, Riess O, Casadei N.   +8 more
europepmc   +1 more source

Spinocerebellar ataxias Ataxias espinocerebelares

Arquivos de Neuro-Psiquiatria, 2009
Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia.
openaire   +1 more source

Radiological characterization of spinocerebellar ataxia type 6

Spinocerebellar ataxia type 6 (SCA-6) is a rare, autosomal dominant neurodegenerative condition characterized by adult onset cerebellar ataxia and ocular movement disorders.
Chinnery P, Butteriss D, Birchall D
core  

Cerebellar Cognitive Affective Syndrome in Spinocerebellar Ataxia Type 6. [PDF]

Cerebellum
Machado FM, Massuyama BK, Gomes JS, França MC, Barsottini OGP, Pedroso JL.   +5 more
europepmc   +1 more source

DNA single-strand break repair and spinocerebellar ataxia

, 2003
DNA single-strand break repair (SSBR) is critical for the survival and genetic stability of mammalian cells. Three papers have recently associated mutations in putative human SSBR genes with hereditary spinocerebellar ataxia.
Keith Caldecott (4461034)
core