Whole exome sequencing in patients with undiagnosed ataxia in a Korean population
Objective: To investigate genetic causes of cerebellar ataxia in Korea using whole exome sequencing (WES) Background: Cerebellar ataxia encompasses a number of neurological conditions with…Association between ZNF184 and symptoms of Parkinson’s disease in southern Chinese
Objective: The aim was to investigate the association between ZNF184 and symptoms of Parkinson’s disease (PD) in southern Chinese. Background: Parkinson’s disease (PD) is a…Novel Mutation in the Protein Kinase C Gamma Gene Causing Spinocerebellar Ataxia-14 in a Large Family
Objective: To report a novel mutation not been previously reported in large, multi-ethnic general populations, in the protein kinase C gamma (PRKCG) gene causing spinocerebellar ataxia…Predictors of quality of life in Machado-Joseph disease: A longitudinal observational study
Objective: Determine the influence of clinical symptoms on QoL in patients with Machado-Joseph disease (MJD). Background: MJD is a rare inherited neurodegenerative disorder. Its phenotypical expression…Clinical characterization and disease progression in spinocerebellar ataxia type 35: A case series
Objective: To characterize the clinical presentation and disease progression of patients with spinocerebellar ataxia type 35 (SCA35). Background: Mutations in TGM6 have been identified to…Recessive CWF19L1 mutations in a family with dystonia-ataxia syndrome
Objective: To enrich the limited clinical and genetic data of an extremely rare recessive ataxia subtype. Background: Advances in NGS techniques led to an increase…Genetic, biochemical and clinical findingss in Friedreich’s ataxia patients – relationship with the disease severity
Objective: To investigate the correlation of disease severity in terms of clinical, genetic and molecular parameters in FRDA. Background: : Friedreich ataxia (FRDA) is a…Novel KCND3 mutation associated with paroxysmal motor exacerbations in spinocerebellar ataxia 19
Objective: To investigate a family affected by ataxia and paroxysmal motor exacerbations. Background: Ataxia channelopathies share common traits such as slow progression and variable degree…Novel Dentato-Olivo-Luysian Atrophy in a Greek Family
Objective: To describe a unique Greek family with a Dentatorubral-pallidoluysian atrophy (DRPLA) like clinical presentation and a distinctive neuropathological phenotype. Background: DRPLA is a cause…Two cases of Ataxia Telangiectasia Like Disorder: phenotypic spectrum associated with MRE11 gene
Objective: In this study we show a couple of siblings with a progressive cerebellar ataxia associated with mutation in MRE11A. Our goal is to demonstrate…
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