Ataxin-2 gene in the Cuban population: Mutagenesis and epigenetic DNA methylation disease influencing phenotype
Objective: To characterize genetics and epigenetics factors contributing to the origin and accounting to the Cuban SCA2 phenotype variability. Background: CAG repeat expansions in ATXN2…Spinocerebellar ataxias in Southern Brazil: genotypic and phenotypic evaluation of 213 families
Objective: To describe and correlate the genotype and phenotype of patients diagnosed with SCAs. Background: Spinocerebellar Ataxias (SCAs) are neurodegenerative diseases with autosomal dominant inheritance…The First Chinese Case of Fragile X-associated Tremor/ Ataxia Syndrome :an underestimated disease in China
Objective: To report the first case of FXTAS from mainland of China and review the literature to find out why is FXTAS an underestimated disease in…Genetic diagnosis of Chorea-acanthocytosis using whole exome sequencing revealed novel VPS13A Gene mutation
Objective: We hereby report a patient who is genetically confirmed Chorea-acanthocytosis (ChAc). Background: ChAc is a rare autosomal recessive genetic disorder caused by mutation of…Rare causes of Opsoclonus Myoclonus Ataxia Syndrome
Objective: To evaluate for rare causes of Opsoclonus Myoclonus Ataxia Syndrome. Background: Opsoclonus Myoclonus is a rare acute onset neurological disorder characterized by associated ocular,…Benefit and Weakness with botulinum toxin: time course and relationship.
Objective: To compare the timecourse of and relationship between benefit and weakness after botulinum toxin (BoNT) injection. Background: The timecourse of benefit onset and duration…Somatization disorder (SD) and Parkinson’s Disease (PD) in Mexican population
Objective: Identify, in Mexican patients with PD, the prevalence of SD as well as its impact on cognitive and motor impairment. Background: SD refers to…Differences in correlation with cardiac sympathetic denervation between depression and anhedonia in drug naïve Parkinson disease patients
Objective: To compare the correlation with some assessments of DAT scan and myocardial MIBG scintigraphy between depression and anhedonia in drug naive Parkinson's Disease (PD)…Can a smartphone accelerometer differentiate between functional and organic tremor ?
Objective: The aim of the study was to determine if a smartphone accelerometer can distinguish functional tremor from organic tremor. Background: Differentiating functional tremor from…Modern aspects of genetics of child cerebral palsy with symptomatic epilepsy
Objective: Objective of the study was the molecular genetic aspects of child cerebral palsy and symptomatic epilepsy in children. Background: From a genetic point of…
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