Novel missense variants in KMT2B in segmental dystonia
Objective: To report and describe two novel missense mutations in KMT2B identified in two dystonia patients from China. Background: Recently, two independent groups have reported…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:…Clinical and genetics characterization of patients with Myoclonus Dystonia Syndrome
Objective: To characterize clinically and genetically a series of 23 patients with myoclonus dystonia syndrome (MDS) and to explore the Unified Myoclonus Rating Scale (UMRS)…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…Genetic defects causing complex movement disorders and basal ganglia degeneration in childhood
Objective: To characterize genotype–phenotype correlations in basal ganglia degeneration (BGD) in childhood. Background: BGD in childhood causes movement disorders, neurodevelopmental dysfunction and long-lasting severe disability.…Analysis of gene polymorphisms of Parkinson’s disease in Han Chinese population
Objective: Sequencing of Parkinson Disease（PD) genes were used in our research in order to study the polymorphism of PD related genes of Chinese Han people.…Assessing the involvement of ARSG and RAB12 variants in Musician’s Focal Dystonia from the US.
Objective: To assess the involvement of genetic risk factors in implicated genes in a US cohort with musician's focal dystonia (MFD). Background: MFD affects 1-2%…RAB12 variants and their role in dystonia
Objective: To evaluate the role of mutations in RAB12 in different forms of dystonia. Background: By next generation sequencing, we recently identified an extremely rare…Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation
Objective: Pathogenic mutations of COL4A1 are associated with young-onset stroke and porencephaly. We present a case of a 32-year-old female patient with juvenile onset right hand…NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy
Objective: To elucidate the genetic cause of a distinct combined dystonia syndrome, inherited in an autosomal recessive fashion in a small UK kindred [Figure1A]. Background:…
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