Results 131 to 140 of about 4,949 (187)

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). [PDF]

Arq Neuropsiquiatr
Bronstein AM.
europepmc   +1 more source

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review. [PDF]

Int J Mol Sci
Bernardi E, López-Lombardía Ó, Olmedo-Saura G, Pagonabarraga J, Kulisevsky J, Pérez-Pérez J.   +5 more
europepmc   +1 more source

Multiple roles of replication factor C family in pan‑cancer (Review). [PDF]

Oncol Rep
Luo D, Li B, Jiang X.
europepmc   +1 more source

Prevalence and Clinical Correlates of Sleep Disorders in RFC1-Spectrum Disorders: A Cross-Sectional Study. [PDF]

Mov Disord
Funcis A, Brunetti V, Rossi S, Zanna GD, de Scisciolo M, Maneri G, Di Stasio E, Petrucci A, Della Marca G, Silvestri G.   +9 more
europepmc   +1 more source

Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson's disease and Lewy Body Dementia cohorts. [PDF]

NPJ Parkinsons Dis
Wang L, Milton M, Fearnley LG, Bhalala OG, Bahlo M, Rafehi H.   +5 more
europepmc   +1 more source

The Spectrum of Peripheral-Vestibular Deficits and Their Change Over Time in CANVAS/RFC1-Related Ataxia Systematic Review and Meta-Analysis of Quantitative Head-Impulse Testing. [PDF]

Cerebellum
Szymanska Heydel M, Heindl F, Hartmann A, Borsche M, Traschütz A, Straumann D, Strupp M, Tarnutzer AA.   +7 more
europepmc   +1 more source

Impact of the intronic RFC1 expansion size in CANVAS phenotype: an oculomotor study. [PDF]

J Neurol
Dupré M, Hermann R, Vidoni L, Quadrio I, Latour P, Subtil F, Froment Tilikete C.   +6 more
europepmc   +1 more source

RNA Foci in Two bi-Allelic RFC1 Expansion Carriers

RNA Foci in Two bi-Allelic RFC1 Expansion Carriers
2024年度
openaire  

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers. [PDF]

Cerebellum
Pretegiani E, Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Kuzmiak M, Milovanovic A, Traschütz A, Tarnutzer AA.   +16 more
europepmc   +1 more source

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis. [PDF]

Brain Commun
van Vugt JJFA, Zwamborn RAJ, Dolzhenko E, Eberle MA, Weisburd B, Bekema E, Kooyman M, Wang BN, Project MinE ALS Sequencing Consortium , Kamsteeg EJ, Losekoot M, Baas F, Novy C, Høyer H, van Eijk RPA, van Es MA, van Rheenen W, Al-Chalabi A, van den Berg LH, Veldink JH.   +19 more
europepmc   +1 more source