Results 131 to 140 of about 83,390 (218)

SARA captures disparate progression and responsiveness in spinocerebellar ataxias. [PDF]

J Neurol
Petit E, Schmitz-Hübsch T, Coarelli G, Jacobi H, Heinzmann A, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Pulst SM, Subramony SH, Ewenczyk C, Brice A, Durr A, Klockgether T, Ashizawa T, Tezenas du Montcel S.   +25 more
europepmc   +1 more source

Consensus Paper: Strengths and Weaknesses of Animal Models of Spinocerebellar Ataxias and Their Clinical Implications. [PDF]

Cerebellum, 2022
Cendelin J, Cvetanovic M, Gandelman M, Hirai H, Orr HT, Pulst SM, Strupp M, Tichanek F, Tuma J, Manto M.   +9 more
europepmc   +1 more source

Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias. [PDF]

Curr Neurol Neurosci Rep
Lin CR, Kuo SH, Opal P.
europepmc   +1 more source

Current Status of Gene Therapy Research in Polyglutamine Spinocerebellar Ataxias. [PDF]

Int J Mol Sci, 2021
Afonso-Reis R, Afonso IT, Nóbrega C.
europepmc   +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

The Initial Symptom and Motor Progression in Spinocerebellar Ataxias

Cerebellum, 2017
Lan Luo, Jie Wang, R. Lo, K. Figueroa, S. Pulst, Pei-Hsin Kuo, S. Perlman, G. Wilmot, C. Gomez, J. Schmahmann, H. Paulson, V. Shakkottai, S. Ying, T. Zesiewicz, K. Bushara, M. Geschwind, Guangbin Xia, S. Subramony, T. Ashizawa, S. Kuo   +19 more
semanticscholar   +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