Clinical hypnosis in functional movement disorders: a potential therapeutic strategy
Objective: To present a patient with a functional movement disorder who was successfully treated with clinical hypnosis. Background: Functional movement disorders (FMD), specially fixed dystonia,…The role of stress-related genes and childhood trauma in the clinical phenotype of Functional Movement Disorders
Objective: The aim of this study was to evaluate the relationship between single nucleotide polymorphisms (SNPs) at the level of stress-related genes, childhood trauma, and…SNCA G51D missense mutation causing juvenile onset Parkinson’s disease
Objective: To report the clinical and genetic features in a Parkinson’s patient with the SNCA G51D missense mutation. Background: α-synuclein (SNCA) gene mutations are recognized…A novel intronic variant in MAPT causes FTLD-parkinsonism: Implications for regulatory mechanism of MAPT pre-mRNA splicing
Objective: To report the identification of a novel intronic variant in MAPT in a patient with familial parkinsonism-frontotemporal lobar degeneration (FTLD). Background: MAPT mutations are…GBA1 biomarkers in longitudinal CSF: GCase, Sphingolipids and alpha-synuclein
Objective: To assess the GBA1-pathway-specific biomarker profile in patient-derived CSF. Background: Heterozygous mutations in the GBA1 gene represent the most common genetic risk factor for…Sequencing of single human nigral dopaminergic neurons for somatic copy number variants
Objective: To detect somatic DNA copy number variants (CNVs) in dopaminergic neurons isolated from human substantia nigra, using shallow whole genome sequencing (WGS). Background: Somatic…Heterozygous DCC mutations, more than congenital mirror movements
Objective: To perform a comprehensive characterization of 5 patients with variable degree of congenital mirror movements. Background: Congenital mirror movements (CMM) are rare non-progressive syndromes…A Systems Approach Model for Pantothenate Kinase-Associated Neurodegeneration (PKAN)- Assessment and Treatment
Objective: Propose a new systems approach model for PKAN, investigate treatment, and establish biologic and genetic markers. Background: PKAN is a recessive, rare, inborn error…Creutzfeldt-Jakob disease with a M232R substitution (CJD232) masquerading as parkinson look-alike syndrome
Objective: To describe a case of Creutzfeldt-Jakob disease with a M232R substitution (CJD 232) presented with parkinson look-alike syndrome and showed remarkably long survival time.…Encephalomyelopathy Due to Cerebrotendinous Xanthomatosis
Objective: To present a case in which the MRI of a patient with cerebrotendinous xanthomatosis (CTX) revelaled impairment of whole neuroaxis. Background: CTX is a…
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