Results 191 to 200 of about 15,463 (269)

Suicidal Ideation in Spinocerebellar Ataxia [PDF]

Levi Peppel, Ruo‐Yah Lai, Christian Rummey, Puneet Opal, Jeremy D. Schmahmann, Christopher M. Gómez, Henry L. Paulson, Theresa A. Zesiewicz, Susan B. Perlman, George Wilmot, Sarah H. Ying, Chiadi U. Onyike, Khalaf Bushara, Michael D. Geschwind, Karla P. Figueroa, Stefan M. Pulst, S. H. Subramony, Antoine Duquette, Tetsuo Ashizawa, Ali G. Hamedani, Marie Y. Davis, Sharan R. Srinivasan, Matthew R. Burns, Nadia Amokrane, Lauren R. Moore, Vikram G. Shakkottai, Liana S. Rosenthal, Sheng-Han Kuo, Chi‐Ying Lin   +28 more
openalex   +1 more source

Epidemiology of Spinocerebellar Ataxias in Europe. [PDF]

Cerebellum
De Mattei F, Ferrandes F, Gallone S, Canosa A, Calvo A, Chiò A, Vasta R.   +6 more
europepmc   +1 more source

Spinocerebellar ataxia type 49 presenting with ataxia, early onset dystonia, and bradykinesia in an Indian female patient [PDF]

Divyani Garg, Pooja Sharma, Mohammed Faruq, Ayush Agarwal, Ajay Garg, S. B. Punith, S. Sidharth, Achal Kumar Srivastava   +7 more
openalex   +1 more source

Nuclear Localization of the Spinocerebellar Ataxia Type 7 Protein, Ataxin-7 [PDF]

, 1999
Michael D. Kaytor, Lisa Duvick, Pamela J. Skinner, Michael D. Koob, Laura P.W. Ranum, Harry T. Orr   +5 more
openalex   +1 more source

Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms. [PDF]

Cerebellum
Moura J, Oliveira J, Santos M, Costa S, Silva L, Lemos C, Barros J, Sequeiros J, Damásio J.   +8 more
europepmc   +1 more source

Dysregulation of alternative splicing is a transcriptomic feature of patient-derived fibroblasts from CAG repeat expansion spinocerebellar ataxias. [PDF]

Hum Mol Genet
Aliyeva A, Lennon CD, Cleary JD, Shorrock HK, Berglund JA.   +4 more
europepmc   +1 more source

Rating scales and biomarkers for CAG-repeat spinocerebellar ataxias: Implications for therapy development. [PDF]

J Neurol Sci, 2021
Chen ML, Lin CC, Rosenthal LS, Opal P, Kuo SH.   +4 more
europepmc   +1 more source

CAG repeat mosaicism is gene specific in spinocerebellar ataxias. [PDF]

Am J Hum Genet
Kacher R, Lejeune FX, David I, Boluda S, Coarelli G, Leclere-Turbant S, Heinzmann A, Marelli C, Charles P, Goizet C, Kabir N, Hilab R, Jornea L, Six J, Dommergues M, Fauret AL, Brice A, Humbert S, Durr A.   +18 more
europepmc   +1 more source

DNA Repair in Huntington's Disease and Spinocerebellar Ataxias: Somatic Instability and Alternative Hypotheses. [PDF]

J Huntingtons Dis, 2021
Maiuri T, Hung CLK, Suart C, Begeja N, Barba-Bazan C, Peng Y, Savic N, Wong T, Truant R.   +8 more
europepmc   +1 more source

Investigation of autophagy-activating molecules in a glia-specific Spinocerebellar ataxia type 1 model [PDF]

Tímea Burján, Hanna Horvath, Eszter Illés, Katalin Schlett, Norbert Bencsik, Tibor Kovacs   +5 more
openalex   +1 more source