Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
Objective: To report on the frequency of intronic GAA expansions in the fibroblast growth factor 14 (FGF14) gene in patients with an unexplained cerebellar ataxia,…Brain functional state mapping in resting state and network alteration in Spinocerebellar Ataxia Type 2 in comparison with healthy controls
Objective: The aim of this study is to map the brain functional network alterations by estimating functional connectivity of brain structures in spinocerebellar ataxia type 2.…Non classified SCA-like presentation of GEMIN5 + GYG-1 mutation. Case report
Objective: To report the first case of a patient with GEMIN5 and GYG-1 genes mutations who presented with features of both SCA and myopathy. Background:…Extended phenotypes of autosomal recessive cerebellar ataxia type 1: learn from a novel mutation of SYNE1 gene
Objective: Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause ARCA type 1 with a remarkable heterogeneity in clinical…SpeechATAX: A rater blinded randomized controlled trial of intensive home-based biofeedback therapy for dysarthria in progressive ataxia
Objective: To investigate the effectiveness of a digitized intensive home-based speech rehabilitation, SpeechATAX, in people with progressive hereditary ataxia. Background: The loss of the ability…Genetic diagnosis of parkinsonian phenotype of Machado Joseph Diseasep (SCA-3) presenting with dopa induced dyskinesia
Objective: We report a rare type IV parkinsonian phenotype of MJD having a rare genetic mutation. SCA type 3 (SCA3), also known as Machado-Joseph disease…Reticulospinal tract integrity in patients with SCA12 having impairment of Corticospinal tract- a clinical and electrophysiological study
Objective: Estimate the Reticulospinal tract (RST) activity using StartReact paradigm in patients of SCA12 with clinical and electrophysiological evidence of compromised corticospinal tract (CST) integrity. Background: Spinocerebellar…Reaching kinematics in patients with Spinocerebellar Ataxia Type 12 using a markerless motion tracking system
Objective: In the current study, we compared the kinematics of planar reaching movements between patients with Spinocerebellar Ataxia Type 12 (SCA12) and healthy control using…Motor control of finger individuation and strength in patients with Parkinson’s disease and Spinocerebellar Ataxia type 12
Objective: Compare finger individuation (FI) and maximum finger strength in healthy control, patients with Parkinson’s Disease (PD) and Spinocerebellar ataxia type12 (SCA12). We also examined…Genetic and functional analysis of CCDC88C mutations in patients with Parkinson’s disease.
Objective: To investigate the association between rare deleterious CCDC88C variants and PD. Background: SCA40 is a rare form of spinocerebellar ataxia caused by heterozygous mutations…
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