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:…Trisomy 8 Mosaicism and dystonia: a THAP1 overdose?
Objective: We report a case of Trisomy 8 Mosaicism (T8M, Warkany Syndrome) with craniocervical and hand dystonia, an hitherto unreported disease association. Background: T8M is…Focal dystonia as an early symptom of CACNA1A mutation: case report and literature review.
Objective: We describe two cases, a father-daughter pair, of CACNA1A mutation with task specific dystonia as an early feature. The father otherwise had a phenotype…Intracranial calcifications and dystonia associated with a novel deletion encompassing SLC20A2 and THAP1
Objective: Describe a case of dystonia and intracranial calcifications associated with a deletion within 8p11.21 Background: Multiple genes located within chromosome 8p11.21 are associated with…Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC): a Mexican case report.
Objective: To report the first case in Mexico of a patient with generalized dystonia and self-mutilation of the tongue with clinical and radiological diagnosis of…Association analysis of single nucleotide polymorphisms near the DYT3 locus to dystonic symptoms in X-linked dystonia-parkinsonism
Objective: We aimed to elucidatewhether single nucleotide polymorphisms within the XDP locus affect the phenotypic expression of XDP. Background: X-linked Dystonia-Parkinsonism (XDP, DYT3, Lubag Disease,…
- « Previous Page
- 1
- …
- 20
- 21
- 22
- 23
- 24
- …
- 26
- Next Page »