Results 141 to 150 of about 3,165 (187)

Predicting disease progression in progressive cerebellar ataxias: integrating clinical, imaging, fluid, genetic, and digital biomarkers. [PDF]

Front Neurol
Hao Y, Hao X.
europepmc   +1 more source

Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings. [PDF]

Cerebellum
Rashedi R, Peemöller F, Erdmann H, Gelderblom M, Hidding U, Ganos C, Chen R, Abicht A, Zittel S.   +8 more
europepmc   +1 more source

First Report of Co-Occurring FGF14 (SCA27B) and RFC1 (CANVAS) Repeat Expansions in Two of Three Siblings with Late-Onset Cerebellar Ataxia. [PDF]

Cerebellum
Tsokkos T, Christodoulou K, Votsi C, Georghiou A, Christofides A, Constantinou A, Zamba-Papanicolaou E.   +6 more
europepmc   +1 more source

Oculomotor abnormalities in patients with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) reflect midline cerebellar impairment. [PDF]

J Neurol
Storm R, Lübbers B, Borsche M, Weiss E, Nümann A, Ganos C, Brüggemann N, Helmchen C, Sprenger A.   +8 more
europepmc   +1 more source

Structure of the human CTF18-RFC clamp loader bound to PCNA. [PDF]

Elife
Briola GR, Tehseen M, Al-Amodi A, Young G, Danazumi AU, Nguyen PQ, Savva CG, Hedglin M, Hamdan SM, De Biasio A.   +9 more
europepmc   +1 more source

Comprehensive phenotyping of RFC1-related disorder: integrating electrophysiological, brain imaging, and otoneurological data in deep phenotyping. [PDF]

Arq Neuropsiquiatr
Fernandes AA, Alexandre PL, Vedor S, Figueiredo R, Marques P, Braz L.   +5 more
europepmc   +1 more source

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

Arq Neuropsiquiatr
Bronstein AM.
europepmc   +1 more source

Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome. [PDF]

J Appl Genet
Filip T, Karolina ZJ, Natalia D, Henry H, Andrea C, Karolina R, Agnieszka P, Rafal P, Piotr J, Ewelina ED, Anna S.   +10 more
europepmc   +1 more source