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…Concordance of different evaluation approaches of non-motor symptoms in patients with cervical dystonia
Objective: The aim of our study was to assess the concordance of different evaluation approaches of non-motor symptoms (NMS) in patients with cervical dystonia (CD).…Recent Clinical variation of Segawa Disease in Japan
Objective: To analyze clinical phenotype of recent variation of Segawa disease（GCHⅠ deficiency, DYT5a）in Japan. Background: Segawa Disease（SD）is major dystonia in children found by Prof.Masaya Segawa…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…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…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…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…Non-Motor Symptoms In Chinese Patients With Isolated Generalized Dystonia: A Case-Control Study
Objective: To explore non-motor symtoms in Chinese patients with isolated generalized dystonia. Background: Previous studies have indicated that non-motor symptoms are primary problems in focal…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…
- « Previous Page
- 1
- …
- 766
- 767
- 768
- 769
- 770
- …
- 1554
- Next Page »