HGprt deficiency affects early brain development in vivo in a mouse model of Lesch-Nyhan disease
Objective: To determine the effects of hypoxanthine guanine phosphoribosyl transferase (HGprt) deficiency on early brain development in vivo, in a HPRT1-deficient mouse model. Background: Lesch-Nyhan…Cerebral cavernous malformations and movement disorders
Objective: To present the unusual occurrence of movement disorders (MD) secondary to cerebral cavernous malformations (CCM). Background: CCM most frequently become manifest by seizures, focal…Transcranial neuromodulation of the Frontal Eye Fields: targeting Temporal Discrimination Thresholds (TDT) in Adult Onset Primary Torsion Dystonia (AOPTD)
Objective: We aim to further characterise the sensory processing abnormalities previously observed in AOPTD using a novel transcranial Direct Current Stimulation (tDCS) protocol. Background: AOPTD,…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…
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