Assessment, identification and classification of movement disorders in 22q11.2 deletion syndrome
Objective: To assess the nature and frequency of movement disorders in children with molecularly confirmed 22q11.2 Deletion Syndrome. Background: 22q11.2 Deletion Syndrome (22q11.2DS) is a…Is the gene expression of TAF1 modified by the X-linked dystonia-parkinsonism-associated hexanucleotide repeat?
Objective: To investigate the impact of the hexanucleotide repeat within the X-linked dystonia-parkinsonism-associated haplotype on endogenous TAF1expression. Background: X-linked dystonia-parkinsonism (XDP) is a severe neurodegenerative movement…Expression analysis of candidate genes in a cell model of affected and unaffected THAP1 mutation carriers and controls
Objective: To evaluate the role of expressional changes in carriers of a THAP1 mutation in relation to penetrance of dystonia. Background: THAP1 encodes a transcription…TUBB4A mutation: Expansion of H-ABC phenotype with apparent iron accumulation in the basal ganglia – case report and literature review
Objective: This case report expand the phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum. Background: Background: Hypomyelination with atrophy of the basal ganglia…The Genetic Basis of paediatric movement disorders: experience from the SYNaPS Study
Objective: To identify genetic causes of paediatric movement disorders in a large multi-ethnic cohort of patients by genetic investigations. Background: Pediatric movement disorders which are…Stimulus-induced paroxysmal cranial dyskinesia and Nail Patella Syndrome in a multigenerational family with a novel mutation in the LMX1B gene
Objective: To perform a genetic linkage study with the aim to identify the cause of dyskinesia in a large family with affected members in several…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…Phenotypic segregation in kindred with a novel ANO3 variant
Objective: To describe the phenotypic and genotypic presentation of a kindred with a novel ANO3 mutation. Background: Mutations in ANO3 gene cause an autosomal dominant…Gene panel testing in movement disorders: an efficient approach highlighting overlaps and heterogeneity
Objective: Our study aimed at developing a targeted sequencing approach using a customized panel of genes involved in movement disorders (MDs). Background: MDs are characterized…Correlation of Retinal Nerve Fiber Layer Thickness and X-Linked Dystonia Parkinsonism Measured by Spectral-Domain Optical Coherence Tomography
Objective: This is a pilot study aimed to determine the association of the Retinal Nerve Fiber Layer (RNFL) thickness with X-Linked Parkinsonism Disease patients using…
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