Botulinum Toxin dose optimization in pediatric DYT1 type Focal Hand Dystonia and tremor
Objective: We diagnosed a rare pediatric case of genetic focal hand dystonia (FHD) with dystonic tremor and optimized Onabotulinum Toxin A injection treatment dosing. Background:…Novel GNO1 mutation in monozygotic twins responsive to DBS
Objective: GNAO1 is located on chromosome 16q12.2 and encodes Gα0 subunit of the heterotrimeric guanine-binding protein necessary for neuronal signaling. It is thought that loss-of-function GNAO1…Phenotypic analysis of subjects with homozygous and compound heterozygous PANK2 mutations in a single extended pedigree from the Dominican Republic (DR) PKAN cohort
Objective: Whole exome sequencing and genotypic screening of homozygous and heterozygous PANK2 mutations in the Dominican Republic. Background: PKAN affects 1 in 1,000,000 people worldwide,…Mutation screening and clinical features analysis in patients with early-onset primary dystonia
Objective: In this context, it is important to reveal the mutation frequency of primary dystonia related genes using target dystonia related gene panel among a…Comprehensive Screening of Genetic, Genomic, Mitochondrial, and Microbiome Associations with Phenotypic Measures in the Dominican Republic PKAN Cohort
Objective: Establish novel molecular predictors of phenotypic variation using screening of genomic, transcriptomic, mitochondrial, microbiome, and clinical features. Background: Pantothenate Kinase Associated Neurodegeneration (PKAN), also…Frequency and phenotypic spectrum of ANO3 dystonia: A single-center cohort study
Objective: To further clarify the spectrum and frequency of ANO3 rare variants in Chinese populations with primary dystonia. Background: Dystonia is a movement disorder with…KMT2B-related dystonia (DYT28) and Klippel-Feil Syndrome: A new association?
Objective: To report the association of lysine-specific histone-methyltransferase 2B gene (KMT2B)-related dystonia (DYT28) and Klippel-Feil Syndrome (KFS). Background: Dystonia is a hyperkinetic movement disorder characterized…Paroxysmal asymmetric dystonic arm posturing – a less recognised but characteristic manifestation of ATP1A3-related disease
Objective: To highlight a less recognised but characteristic manifestation of ATP1A3-related disease. Background: ATP1A3 mutations cause a wide clinical spectrum, and are one of the…Genotype-phenotype relations for the isolated Dystonia Genes TOR1A, THAP1, GNAL, ANO3, KMT2B, PRKRA and HPCA: MDSGene Systematic Review
Objective: To systematically review genotypes and phenotypes of monogenic isolated dystonia. Background: The Movement Disorder Society Genetic mutation database (MDSGene at www.mdsgene.org) provides an overview…A study of Mutation in ATP7B gene and its correlation with clinical phenotype and radiological features in patients of Wilson Disease-a population based study in a tertiary care institute in eastern India
Objective: The present study was aimed at exploring the mutation profile of Eastern Indian Wilson’s Disease (WD) patients and analyzing the effect of mutations by…
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