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…Encephalopathy in a Japanese patient with Rapid-Onset Dystonia-Parkinsonism carrying a Novel ATP1A3 mutation
Objective: To investigate underlying pathomechanisms of DYT/PARK-ATP1A3 in Japanese patient with rapid-onset dystonia-parkinsonism (RDP). Background: Mutations in ATP1A3 would lead to development of various neurological…Screening study of COL6A3 in sporadic isolated dystonia
Objective: To verify the role of COL6A3 in isolated dystonia. Background: COL6A3 has recently been suggested to cause a form of autosomal recessive isolated dystonia.…Siblings with a PRKRA (DYT16) Mutation and Startle Myoclonus
Objective: To characterize and expand the phenotype of a family from North-East England with DYT16. Background: DYT16 is an autosomal recessive disease associated with mutations…Paroxysmal multifocal dystonia with hemiplegic migraine possibly related to novel CACNA1A mutation
Objective: To report a case of a unique clinical presentation of hemiplegic migraine associated with paroxysmal multifocal dystonia possibly related to a novel CACNA1A mutation.…Hereditary spastic paraplegia presenting as limb dystonia with a novel SPG7 mutation
Objective: We present a case of a patient who presented with limb dystonia and was found to have HSP associated with a previously unreported compound…The phenotype of ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP) is broader than previously defined
Objective: To update the phenotype of RDP based on a cohort of ATP1A3 mutation+ individuals. Background: RDP is caused by mutations of the ATP1A3 gene,…Targeted Next Generation Sequencing in Diagnosis of Dystonia Patients
Objective: To assess the effectiveness of the targeted next generation sequencing in dystonia patients in China. Background: Dystonia is a movement disorder with high clinical…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…
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