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…A case of generalized early-onset dystonia with a novel low-penetrant THAP1 missense variant
Objective: To present a new case with generalized dystonia carrying a novel heterozygous likely pathogenic THAP1 variant associated with reduced penetrance Background: Dystonia is a…Recessive CWF19L1 mutations in a family with dystonia-ataxia syndrome
Objective: To enrich the limited clinical and genetic data of an extremely rare recessive ataxia subtype. Background: Advances in NGS techniques led to an increase…Genetic testing in pediatric dystonia and influence of clinical factors on diagnostic yield
Objective: To identify the yield of genetic testing in suspected genetically determined pediatric dystonia. Identify differences in clinical factors among patients with confirmatory and non-confirmatory…Loss‐of‐function mutations in NR4A2 cause dopa‐responsive dystonia-parkinsonism
Objective: To report two patients with early-onset dystonia-parkinsonism as a result of loss-of-function mutations in nuclear receptor subfamily 4 group A member 2 (NR4A2). Background:…A Novel Variant of TUBB4A Dystonia (DYT4): A Case Report
Objective: To describe the clinical presentation of a case of TUBB4A dystonia with a novel genetic variant Background: A missense variant at Arg2Gly in the…Bilateral GPi DBS for the treatment of severe generalized genetic dystonia caused by KMT2B mutation (DYT-28)
Objective: . Background: KMT2B-related dystonia (DYT-28) is a complex childhood-onset movement disorder, characterized by a limb onset dystonia progressing to generalized dystonia with cranio-cervical involvement…Phenotypic heterogeneity in Chinese dystonia patients with KMT2B variants
Objective: Our study is to summarize genotype-phenotype features with KMT2B-related dystonia in China. Background: KMT2B-related dystonia is a recently discovered childhood onset movement disorder. It…No pathogenic mutations in HPCA in Chinese dystonia patients
Objective: To explore the frequency and spectrum of HPCA mutation in Chinese subjects with dystonia. Background: Dystonia is known as a group of clinically and etiologically…A New Complex dystonic presentation of a rare gene – CACNA1B and its response to Levodopa
Objective: We report a case of complex dystonia with the rare gene- CACNA1B. Background: CACNA1B gene has previously been reported as the cause of myoclonus-…
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