Results 161 to 170 of about 33,006 (235)

Rad23b exacerbates pathological aggregates through disrupting proteasome functions in Spinocerebellar ataxia type 3. [PDF]

Neurotherapeutics
Chen YC, Tung CW, Chan SC, Wu PM, Cheng PH, Chen CM, Yang SH.   +6 more
europepmc   +1 more source

FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B? [PDF]

Brain
Laß J, Thomsen M, Borsche M, Lüth T, Prietzsche JC, Schaake S, Milovanović A, Macpherson H, Gustavsson EK, Saffie Awad P, Dragašević-Mišković N, Laabs BH, König IR, Westenberger A, Pearson CE, Brüggemann N, Klein C, Trinh J.   +17 more
europepmc   +1 more source

Functional connectivity alterations in spinocerebellar ataxia type 10: insights from gray matter atrophy. [PDF]

Brain Imaging Behav
Padron-Rivera G, Ramirez-Garcia G, Chirino-Perez A, Romero-Molina AO, Ochoa-Morales A, Garcia-Gomar MG, Ramirez-Garcia MA, Rodriguez-Mendoza O, Torres-Vences DL, Schüle B, Pasaye-Alcaraz EH, Hernandez-Castillo CR, Fernandez-Ruiz J.   +12 more
europepmc   +1 more source

Radiological characterization of spinocerebellar ataxia type 6

Spinocerebellar ataxia type 6 (SCA-6) is a rare, autosomal dominant neurodegenerative condition characterized by adult onset cerebellar ataxia and ocular movement disorders.
Chinnery P, Butteriss D, Birchall D
core  

Suicidal Ideation in Spinocerebellar Ataxia. [PDF]

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

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Background: Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy.
Lijia Huang (525044), Jodi Warman Chardon (21324209), Roubing Zou (21324215), Kym M Boycott (11588669), Jeremy Schwartzentruber (457933), Stuart Douglas (11588663), Peter Schofield (21133802), Kathie L Friend (11588651), Tracy Dudding (21136469), Dennis E Bulman (11588666), Melissa T. Carter (21324212)   +10 more
core  

Translational Relevance of SCA1 Models for the Development of Therapies for Spinocerebellar Ataxia Type 1. [PDF]

Biomedicines
Plotnikova E, Ageeva T, Sufianov A, Sufianova G, Rizvanov A, Mukhamedshina Y.   +5 more
europepmc   +1 more source

A homozygous PRDX3 pathogenic variant in a paediatric case of spinocerebellar ataxia type 32. [PDF]

Neurogenetics
Yang J, Yu Y, Jiang H, Che Y, Wu D, Li H, Hu Y, Zhu J, Ma D.   +8 more
europepmc   +1 more source

Peripheral and autonomic nervous system involvement in spinocerebellar ataxia type 3: unveiling an invisible burden. [PDF]

J Neurol
Leeuwenberg KE, van Alfen N, van de Warrenburg BP, Maas RPPWM.   +3 more
europepmc   +1 more source

GABAergic neuronal dysfunction underlies tremor in spinocerebellar ataxia 3. [PDF]

Dis Model Mech
Banerjee A, Chatterjee M, Tan KJ, Tay S, Duan K, Andiappan AK, Howland SW, Aso Y, Aw SS.   +8 more
europepmc   +1 more source