Paresthesia and gait impairment in a patient with advanced Parkinson disease-case report
Objective: Our main objective is to illustrate different etiologies for paresthesia and gait impairment that can occur in a patient with Parkinson disease. We present…Gray matter substrates of depression in blepharospasm
Objective: This study aimed to investigate the cortical and subcortical gray matter (GM) volume substrates of depressive symptom in patients with BSP. Background: Primary blepharospasm…Homozygous BZRAP1 mutations cause autosomal recessive dystonia
Objective: To report the identification of bi-allelic mutations in BZRAP1, encoding the active zone (AZ) protein RIM-binding protein 1 (RBP1), as a novel cause of…Generation and in-depth characterization of induced pluripotent stem cell (iPSC) lines from 10 affected and unaffected carriers of THAP1 mutations
Objective: To establish induced pluripotent stem cells (iPSCs) of affected and unaffected Mutation carriers to investigate disease mechanisms of THAP1 in dystonia. Background: Mutations in…Does ‘DYT23’ exist? Report of a second family with adult- onset focal dystonia and a CACNA1AB mutation – causative or coincidental?
Objective: To describe clinical and genetic findings in a patient with focal adult-onset primary cranial dystonia and chorea, and a mutation in CACNA1B (also referred…Decreased blood beta-Glucosidase activity and GBA mutations in Dystonia
Objective: To report on the observation of decreased levels of GCase in peripheral blood in patients presenting with dystonia without signs of parkinsonism. Background: Glucocerebrosidase…Temporal discrimination threshold in musician’s dystonia – an endophenotype?
Objective: To compare the temporal discrimination threshold (TDT) between musician's dystonia (MD) patients and healthy controls, and between dystonic and non-dystonic fingers of musicians with…Frequency and Phenoptypic Spectrum of KMT2B Mutations in Childhood-Onset Dystonia: Results from a Single-Centre Cohort Study
Objective: To assess the frequency of KMT2B mutations in a cohort of patients with childhood-onset dystonia and characterize the related molecular and phenotypic spectrum. Background:…Impaired reaching movements in idiopathic cervical dystonia patients
Objective: Aim of the current study is to describe how patients with idiopathic cervical dystonia (CD) perform reaching movements with their upper limb (i.e. a…Cohort profile of the Japan Dystonia Consortium: Genetic diagnosis and characteristics of movement disorders in Japan
Objective: To reveal molecular epidemiology of hereditary dystonia through resequencing of the currently-known dystonia genes and identification of novel genetic defects. Background: The Japan Dystonia…
- « Previous Page
- 1
- …
- 7
- 8
- 9
- 10
- 11
- …
- 13
- Next Page »