Whole-Exome Sequencing in a Movement Disorders Clinic
Objective: To evaluate the diagnostic utility of whole-exome sequencing (WES) in select patients with a movement disorder. Background: Many patients with suspected genetic movement disorders…Be aware of pitfalls: Bioinformatic analysis of Cas9-targeted Nanopore sequencing of the RFC1 repeat in CANVAS
Objective: To determine the full sequence and length of the pentanucleotide repeat in the RFC1 gene by Cas9-targeted Nanopore sequencing in patients with cerebellar ataxia…PLA2G6-Associated Neurodegeneration: A Continuum of Phenotypes
Objective: To characterize the spectrum of phenotypes of PLA2G6-associated neurodegeneration in a single patient. Background: The phospholipase A2 Group VI (PLA2G6) gene encodes a cytosolic and…MOLECULAR-GENETIC ASPECTS OF WILSON’S DISEASE IN UKRAINE
Objective: To assess the features of molecular genetic mutations in the Ukrainian population of patients with Wilson's disease (WD). Background: Molecular genetic research becomes available…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…
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