Myoclonus Dystonia: A report of two rare mutations
Objective: To present the results of genetic analysis of three patients who presented to our clinic with Myoclonus Dystonia. Background: Myoclonus Dystonia (MD) is a…Exome sequencing reveals homozygous mutations in SACS, ATCAY, and MCOLN1 in three Pakistani families with complex dystonia
Objective: To elucidate the genetic cause in Pakistani families with recessively inherited disorders with dystonic features. Background: Dystonia is a movement disorder characterized by sustained…Computational analysis of expression profiling data in a neuronal model of X-linked dystonia-parkinsonism
Objective: To identify differentially expressed genes and enriched gene sets in a neuronal model of X-linked dystonia-parkinsonism (XDP, DYT3). Background: The putative dysfunctional gene in…Association analysis of NALCN polymorphisms rs1338041 and rs61973742 in a Chinese population with isolated cervical dystonia
Objective: The present study was carried out to examine the associations between the two single nucleotide polymorphisms (SNPs) rs1338041 and rs61973742 in the NALCN gene…TAF1 and its isoforms is underexpressed in different endogenous models of X-linked dystonia-parkinsonism
Objective: To study the expression of TAF1 and its isoforms in different endogenous models of X-linked dystonia-parkinsonism (XDP). Background: The putative gene causing XDP, the…Negative dystonia of the palate: Mutation in the THAP1 (DYT6) gene found in a 42 years old patient
Objective: To highlight that the new clinical entity called "negative dystonia of the palate" recently described is probably more a new clinical presentation of a…DYT2 screening in early-onset isolated dystonia in Italy
Objective: To assess mutations in HPCA (DYT2) in a cohort of familial and sporadic Italian patients with early-onset dystonia. Background: Mutations in Hippocalcin (HPCA) have…Pallidal deep brain stimulation improves dystonia in Woodhouse-Sakati syndrome
Objective: To describe a patient with a rare genetic disorder, Woodhouse-Sakati Syndrome, treated with deep brain stimulation (DBS) for dystonia. Background: Woodhouse-Sakati Syndrome (WSS) is…Expanding the spectrum of ATP1A3 related disorders: Continuum from alternating hemiplegia of childhood to rapid-onset dystonia parkinsonism?
Objective: To report clinical and molecular features of a family showing intrafamilial phenotypic diversity where a novel ATP1A3 mutation was found. Background: Originally there have…The anatomical basis of genetic dystonia: A multimodal MRI study
Objective: We aimed at investigating structural and functional alterations in asymptomatic (aDYT) and symptomatic dystonia (sDYT) mutation carriers. Background: Most of DYT genotypes follow an…
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