Results 171 to 180 of about 7,196 (214)

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

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

Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias. [PDF]

Mov Disord Clin Pract
Lai RY, Rummey C, Amlang CJ, Lin CR, Chen TX, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Ying SH, Onyike CU, Zesiewicz TA, Bushara KO, Geschwind MD, Figueroa KP, Pulst SM, Subramony SH, Burns MR, Opal P, Duquette A, Ashizawa T, Hamedani AG, Davis MY, Srinivasan SR, Moore LR, Shakkottai VG, Rosenthal LS, Kuo SH.   +28 more
europepmc   +1 more source

Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study. [PDF]

J Neurol Neurosurg Psychiatry
Rezende TJR, Adanyaguh I, Barsottini OGP, Bender B, Cendes F, Coutinho L, Deistung A, Dogan I, Durr A, Fernandez-Ruiz J, Göricke SL, Grisoli M, Hernandez-Castillo CR, Lenglet C, Mariotti C, Martinez ARM, Massuyama BK, Mochel F, Nanetti L, Nigri A, Ono SE, Öz G, Pedroso JL, Reetz K, Synofzik M, Teive H, Thomopoulos SI, Thompson PM, Timmann D, van de Warrenburg BPC, van Gaalen J, França MC, Harding IH.   +32 more
europepmc   +1 more source

Effects of cerebellar repetitive transcranial magnetic stimulation plus physiotherapy in spinocerebellar ataxias - A randomized clinical trial. [PDF]

CNS Neurosci Ther
Grobe-Einsler M, Bork F, Faikus A, Hurlemann R, Kaut O.   +4 more
europepmc   +1 more source

The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias. [PDF]

Cerebellum
Selvadurai LP, Perlman SL, Ashizawa T, Wilmot GR, Onyike CU, Rosenthal LS, Shakkottai VG, Paulson HL, Subramony SH, Bushara KO, Kuo SH, Dietiker C, Geschwind MD, Nelson AB, Gomez CM, Opal P, Zesiewicz TA, Hawkins T, Yacoubian TA, Nopoulos PC, Sha SJ, Morrison PE, Figueroa KP, Pulst SM, Schmahmann JD.   +24 more
europepmc   +1 more source

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias. [PDF]

Hum Mol Genet
Sandal P, Jong CJ, Merrill RA, Kollman GJ, Paden AH, Bend EG, Sullivan J, Spillmann RC, Shashi V, Vulto-van Silfhout AT, Pfundt R, de Vries BBA, Li PP, Bicknell LS, Strack S.   +14 more
europepmc   +1 more source

Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias. [PDF]

Brain
Shorrock HK, Lennon CD, Aliyeva A, Davey EE, DeMeo CC, Pritchard CE, Planco L, Velez JM, Mascorro-Huamancaja A, Shin DS, Cleary JD, Berglund JA.   +11 more
europepmc   +1 more source

Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study. [PDF]

Cerebellum
Issa NP, Aydin S, Bhatnagar S, Baumgartner NW, Hill J, Aluri S, Valentic CS, Polley E, Gomez CM, Rezania K.   +9 more
europepmc   +1 more source

SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias. [PDF]

Cerebellum
Uebachs M, Wegner P, Schaaf S, Kugai S, Jacobi H, Kuo SH, Ashizawa T, Fluck J, EUROSCA study group, ESMI study group, RISCA study group, CRC-SCA study group, SCA Registry study group, Klockgether T, Faber J.   +14 more
europepmc   +1 more source