Transplantation therapy of human iPS cell-derived dopamine neural progenitor cells for Parkinson’s disease
Objective: To examine the efficacy of midbrain dopaminergic progenitors derived from human iPS cells, as the cell source for Parkinson's disease model mouse, by analyzing…A Diagnostic Algorithm for Pediatric Early Onset Ataxia
Objective: To provide a clinical diagnostic algorithm for pediatric Early Onset Ataxia (EOA) that can contribute to an increased diagnostic yield. Background: In children, EOA…Usefulness of Sway Area for Assessing Balance and Stability in People with Sporadic Adult Onset Cerebellar Ataxia
Objective: To assess usefulness of sway area using wearable devices by (1) comparison of variables with another neurodegenerative diseases (2) assessing correlation with the Scale…Clinical and Molecular Characterization of a Family with Ataxia with Oculomotor Apraxia Type 2
Objective: To describe a consanguineous family with ataxia with oculomotor apraxia, type II (AOA2). Background: AOA2 is an autosomal recessive neurodegenerative syndrome leading to progressive…Clinical characteristics of a family harbouring a novel CCDC88C mutation (SCA40)
Objective: We here report on clinical features and course of disease in a novel CCDC88C mutation causing spinocerebellar ataxia type 40 (SCA40). Background: SCA40 is…Generalized choreoathetoid-like movements in primary Sjögren syndrome
Objective: To report a case of choreoathetoid-like movements associated to primary Sjögren syndrome. Background: Autoimmune diseases are not uncommon causes of movement disorders. Two percent…Genome-wide association study identifies common genetic variants associated with cervical dystonia
Objective: We aim to identify genetic variants of cervical dystonia (CD) in a large cohort of patients using a genome-wide association study (GWAS) approach. Background:…Can cerebellar dysfunction help differentiate idiopathic from functional cervical dystonia?
Objective: This study investigated cerebellar function in patients with primary cervical dystonia (CD) and patients with presumed functional dystonia, with the intention to both clarify…Atypical presentation in 4 patients of Subacute Sclerosing Pan Encephalitis (SSPE), –widening phenotypic horizon
Objective: To highlight atypical presentation of SSPE and to create high index of awareness about phenotypic spectrum of the disease especially in developing countries. Background:…Temporal Discrimination Threshold is Associated with Multiple Regions of Resting-State Brain Activity in Musician’s Dystonia
Objective: To examine temporal discrimination threshold (TDT) score across different but related forms of task-specific focal dystonia and to assess the correlation between TDT alterations…
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