The role of DYT1 in primary torsion dystonia in Europe.

No abstract is available for this paper.

• Publication year

  1998

• Venue

  Brain : a journal of neurology

• Publication date

  1998-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/BRAIN/121.12.2335PMID 9874484
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Classification of dystonia.

  1998cited by this paper
• The molecular genetics of the dystonias

  1998cited by this paper
• Ethnic variation in the clinical expression of idiopathic torsion dystonia

  1997cited by this paper
• The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

  1997cited by this paper
• Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

  1995cited by this paper
• Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation

  1994cited by this paper
• The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.

  1994cited by this paper
• Linkage analysis in British and French families with idiopathic torsion dystonia.

  1993cited by this paper
• Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.

  1992cited by this paper
• A genetic study of idiopathic torsion dystonia in the United Kingdom.

  1990cited by this paper
• Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34

  1990cited by this paper
• Idiopathic dystonia among ashkenazi jews: Evidence for autosomal dominant inheritance

  1989cited by this paper
• Human gene for torsion dystonia located on chromosome 9q32-q34.

  1989cited by this paper

• Atypical presentations of DYT1 dystonia with acute craniocervical onset.

  2021cites this paper
• Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

  2021cites this paper
• MOLECULAR BASIS OF PATHOGENESIS OF DYSTONIA AMONG INDIAN PATIENTS

  2018cites this paper
• Cholinergic modulation of striatal microcircuits

  2018cites this paper
• Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up

  2017cites this paper
• Case Studies in Movement Disorders: Common and Uncommon Presentations

  2017cites this paper
• Parkinsonism Due to CSF1R Mutation

  2017cites this paper
• eletion variant rs 35153737 in TOR 1 A is associated with isolated ystonia in a Southwestern Chinese Population

  2017cites this paper
• Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population.

  2016cites this paper
• Dissecting the Genetic Basis of Parkinson Disease, Dystonia and Chorea

  2016cites this paper
• The role of the cerebellum in the pathophysiology of dystonia

  2016cites this paper
• European multicentric cohort

  2015cites this paper
• Clinical Patterns of Primary Dystonias among Hospitalized Patients in Baghdad and Kut in Iraq

  2015cites this paper
• The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort

  2015cites this paper
• Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.

  2015cites this paper
• Dystonia: Phenotypes and Genetics

  2015cites this paper
• Striatal cholinergic interneurons in isolated generalized dystonia—rationale and perspectives for stem cell-derived cellular models

  2014cites this paper
• Genetic evaluation for TOR 1-A ( DYT 1 ) in Brazilian patients with dystonia Avaliação genética para TOR 1-A ( DYT 1 ) em pacientes brasileiros com distonia

  2014cites this paper
• Disease Distribution Manner of people's body without mutation in DYT1 Gene of Dystonia Disease in Iran

  2014cites this paper
• Characterization of novel LAP1 complexes and their relevance in DYT1 dystonia

  2014cites this paper
• Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia.

  2014cites this paper
• Genetic movement disorders in patients of Jewish ancestry.

  2014cites this paper
• Atypical phenotypes of DYT1 dystonia in three children.

  2013cites this paper
• Basal Ganglia Disorders

  2013cites this paper
• Studija genetske osnove primarnih distonija u populaciji Srbije

  2013cites this paper
• Hereditäre Dystonien

  2013cites this paper
• [Dystonia genes and elucidation of their roles in dystonia pathogenesis].

  2013cites this paper
• Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort.

  2013cites this paper
• Genetic evaluation in hereditary dystonia

  2012cites this paper
• Degenerative Neurological and Neuromuscular Disease Update on pediatric dystonias : etiology , epidemiology , and management

  2012cites this paper
• Clinical Features, DYT1 Mutation Screening and Genotype-Phenotype Correlation in Patients with Dystonia from Iran

  2012cites this paper
• Normal Dopaminergic and Serotonergic Metabolites in Cerebrospinal Fluid and Blood of Restless Legs Syndrome Patients

  2012cites this paper
• The genetics of dystonias.

  2012cites this paper
• 8. Primary Dystonias

  2012cites this paper
• Update on pediatric dystonias: etiology, epidemiology, and management.

  2012cites this paper
• Diagnosis of dystonic syndromes—a new eight-question approach

  2012cites this paper
• Molecular Diagnosis of Neurogenetic Disorders: General Issues, Huntington's Disease, Parkinson's Disease and Dystonias

  2011cites this paper
• Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis.

  2011cites this paper
• Early-onset primary dystonia.

  2011cites this paper
• EFNS guidelines on diagnosis and treatment of primary dystonias

  2011cites this paper
• Milestones in dystonia

  2011cites this paper
• Genetic and clinical features of primary torsion dystonia.

  2011cites this paper
• The Frequency of DYT1 (GAG Deletion) Mutation in Primary Dystonia Patients from Iran

  2011cites this paper
• Myoclonus-dystonia syndrome.

  2011cites this paper
• Focal limb dystonia

  2010cites this paper
• Diagnosis and Treatment of Primary (Idiopathic) Dystonia

  2010cites this paper
• Dopamine agonist‐induced antecollis in Parkinson's disease

  2009cites this paper
• Early onset primary dystonia.

  2009cites this paper
• A family with a hereditary form of torsion dystonia from Northern Sweden treated with bilateral pallidal deep brain stimulation

  2009cites this paper
• EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias

  2009cites this paper
• Disabling Head Tremor in a Patient with DYT1 Mutation

  2009cites this paper
• Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population

  2009cites this paper
• Periodic leg movements and REM sleep without atonia in Parkinson's disease with camptocormia

  2009cites this paper
• DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations.

  2009cites this paper
• Sensory functions in dystonia: Insights from behavioral studies

  2009cites this paper
• Mutation screening of the DYT6/THAP1 gene in Italy

  2009cites this paper
• TorsinA and DYT1 early-onset dystonia

  2008cites this paper
• DYT1 mutations amongst early onset primary dystonia patients in China.

  2008cites this paper
• Neuropathology of primary adult-onset dystonia

  2008cites this paper
• Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm

  2007cites this paper
• Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report.

  2007cites this paper
• The inherited dystonias.

  2007cites this paper
• The dystonic brain: Electrophysiological investigation of carriers of the DYT1 gene mutation.

  2007cites this paper
• DYT1, An Inherited Dystonia

  2007cites this paper
• The Inherited Dystonias

  2007cites this paper
• Overview of the genetic forms of dystonia

  2007cites this paper
• Functional characterization of the interaction between Bex2 and torsinA, a protein involved in early-onset torsion dystonia

  2007cites this paper
• DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West.

  2006cites this paper
• Non‐DYT1 early‐onset primary torsion dystonia: Comparison with DYT1 phenotype and review of the literature

  2006cites this paper
• Genetics of dystonia.

  2006cites this paper
• A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS‐ES Task Force

  2006cites this paper
• Intrafamilial phenotypic and genetic heterogeneity of dystonia.

  2006cites this paper
• DYT1 mutation in a cohort of Taiwanese primary dystonias.

  2006cites this paper
• Atypical phenotypes and clinical variability in a large Italian family with DYT1–primary torsion dystonia

  2006cites this paper
• Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients

  2006cites this paper
• Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?

  2006influential citation
• Early onset torsion dystonia (Oppenheim's dystonia)

  2006cites this paper
• Mutant torsinA, which causes early‐onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH‐SY5Y cells

  2005cites this paper
• CHAPTER C1 – Clinical Features and Classification of the Human Dystonias

  2005cites this paper
• Early-onset primary torsional dystonia in a 4-generation Chinese family with a mutation in the DYT1 gene.

  2005cites this paper
• Clinical and molecular genetic evaluation of patients with primary dystonia

  2005influential citation
• Stiff child syndrome with mutation of DYT1 gene

  2005cites this paper
• Neurogenetics Of Dystonia And Paroxysmal Dyskinesias

  2005cites this paper
• Phenotypic characterization of DYT13 primary torsion dystonia

  2004cites this paper
• Normal dopaminergic and serotonergic metabolites in cerebrospinal fluid and blood of restless legs syndrome patients

  2004cites this paper
• Writer's cramp in an Australian pedigree with DYT1 dystonia.

  2004cites this paper
• DYT1 mutation in Korean primary dystonia patients.

  2004cites this paper
• Improvement of sleep quality in patients with advanced Parkinson's disease treated with deep brain stimulation of the subthalamic nucleus

  2004cites this paper
• Parkinson's disease patients with bilateral subthalamic deep brain stimulation gain weight

  2004cites this paper
• Inter‐rater reliability of the International Cooperative Ataxia Rating Scale (ICARS)

  2004cites this paper
• Mutations in DYT1

  2004cites this paper
• Lack of mutations in the epsilon‐sarcoglycan gene in patients with different subtypes of primary dystonias

  2004cites this paper
• Chapter 36 – DYT1 Dystonia

  2003cites this paper
• Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.

  2003influential citation
• Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature

  2003cites this paper
• New Perspectives on Dystonia

  2003cites this paper
• Unusual phenotypic expression of the DYT1 mutation.

  2003cites this paper
• [Movement disorders in childhood: classification and genetic update].

  2003cites this paper
• Mouvements anormaux de l’enfant : classification et aspects génétiques

  2003cites this paper
• Dystonia: phenotypes and genotypes.

  2003cites this paper