- Home
- Publications
- Publication Search
- Publication Details
Title
Milestones in dystonia
Authors
Keywords
-
Journal
MOVEMENT DISORDERS
Volume 26, Issue 6, Pages 1106-1126
Publisher
Wiley
Online
2011-06-14
DOI
10.1002/mds.23775
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Dystonic tremor caused by mutation of the glucose transporter gene GLUT1
- (2011) Anne Roubergue et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Effect of Intrathecal Baclofen on Dystonia in Children With Cerebral Palsy and the Use of Functional Scales
- (2011) Francesco Motta et al. JOURNAL OF PEDIATRIC ORTHOPAEDICS
- Homozygous THAP1 mutations as cause of early-onset generalized dystonia
- (2011) Susanne A. Schneider et al. MOVEMENT DISORDERS
- A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3
- (2011) Nina Norgren et al. NEUROGENETICS
- Direct interaction between causative genes of DYT1 and DYT6 primary dystonia
- (2010) Sophie Gavarini et al. ANNALS OF NEUROLOGY
- The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)
- (2010) Frank J. Kaiser et al. ANNALS OF NEUROLOGY
- Bilateral Pallidal Stimulation for X-Linked Dystonia Parkinsonism
- (2010) Pettarusp M. Wadia et al. ARCHIVES OF NEUROLOGY
- TorsinA and DYT1 dystonia: a synaptopathy?
- (2010) Thomas T. Warner et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study
- (2010) Maren Carbon et al. BRAIN
- Chemotrap-1: An Engineered Soluble Receptor That Blocks Chemokine-Induced Migration of Metastatic Cancer Cells In vivo
- (2010) S. Lanati et al. CANCER RESEARCH
- Chemical enhancement of torsinA function in cell and animal models of torsion dystonia
- (2010) S. Cao et al. Disease Models & Mechanisms
- Diffusion tensor imaging in patients with primary cervical dystonia and in patients with blepharospasm
- (2010) G. Fabbrini et al. EUROPEAN JOURNAL OF NEUROLOGY
- Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China
- (2010) F. B. Cheng et al. EUROPEAN JOURNAL OF NEUROLOGY
- Deep brain stimulation for dystonia: patient selection and outcomes
- (2010) J. D. Speelman et al. EUROPEAN JOURNAL OF NEUROLOGY
- The Unique Phenomenology of Sex-Linked Dystonia Parkinsonism (XDP, DYT3, “Lubag”)
- (2010) Lillian V. Lee et al. INTERNATIONAL JOURNAL OF NEUROSCIENCE
- The Rapid-onset Dystonia Parkinsonism Mutation D923N of the Na+,K+-ATPase α3 Isoform Disrupts Na+Interaction at the Third Na+Site
- (2010) Anja Pernille Einholm et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The THAP-Zinc Finger Protein THAP1 Associates with Coactivator HCF-1 andO-GlcNAc Transferase
- (2010) Raoul Mazars et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Which patients with dystonia benefit from deep brain stimulation? A metaregression of individual patient outcomes
- (2010) C. Andrews et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
- (2010) Nutan Sharma et al. MOVEMENT DISORDERS
- Prevalence of THAP1 sequence variants in German patients with primary dystonia
- (2010) Anne S. Söhn et al. MOVEMENT DISORDERS
- Chronic deep brain stimulation in patients with tardive dystonia without a history of major psychosis
- (2010) Hans-Holger Capelle et al. MOVEMENT DISORDERS
- Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study
- (2010) Laura Cif et al. MOVEMENT DISORDERS
- DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation
- (2010) Justus L. Groen et al. MOVEMENT DISORDERS
- Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion
- (2010) Patricia De Carvalho Aguiar et al. MOVEMENT DISORDERS
- Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families
- (2010) Simone Zittel et al. MOVEMENT DISORDERS
- Pallidal and thalamic deep brain stimulation in myoclonus-dystonia
- (2010) Doreen Gruber et al. MOVEMENT DISORDERS
- Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia
- (2010) Francesco Napolitano et al. NEUROBIOLOGY OF DISEASE
- Genetic and clinical features of primary torsion dystonia
- (2010) Laurie J. Ozelius et al. NEUROBIOLOGY OF DISEASE
- Molecular pathways in dystonia
- (2010) D. Cristopher Bragg et al. NEUROBIOLOGY OF DISEASE
- Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging
- (2010) Martin Niethammer et al. NEUROBIOLOGY OF DISEASE
- Abnormal plasticity in dystonia: Disruption of synaptic homeostasis
- (2010) Angelo Quartarone et al. NEUROBIOLOGY OF DISEASE
- Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype
- (2010) Fabienne Clot et al. NEUROGENETICS
- Novel THAP1 sequence variants in primary dystonia
- (2010) J. Xiao et al. NEUROLOGY
- THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
- (2010) H. Houlden et al. NEUROLOGY
- Structural determinants of specific DNA-recognition by the THAP zinc finger
- (2010) Sébastien Campagne et al. NUCLEIC ACIDS RESEARCH
- Differential Response of Dystonia and Parkinsonism following Globus Pallidus Internus Deep Brain Stimulation in X-Linked Dystonia-Parkinsonism (Lubag)
- (2010) Genko Oyama et al. STEREOTACTIC AND FUNCTIONAL NEUROSURGERY
- Long-Term Benefit Sustained after Bilateral Pallidal Deep Brain Stimulation in Patients with Refractory Tardive Dystonia
- (2010) Edward F. Chang et al. STEREOTACTIC AND FUNCTIONAL NEUROSURGERY
- Deep Brain Stimulation for Primary Generalized Dystonia
- (2009) Ioannis U. Isaias et al. ARCHIVES OF NEUROLOGY
- TorsinA protein degradation and autophagy in DYT1 dystonia
- (2009) Lisa M. Giles et al. Autophagy
- The monogenic primary dystonias
- (2009) U. Muller BRAIN
- Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
- (2009) F. Clot et al. BRAIN
- Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine
- (2009) Giuseppina Martella et al. BRAIN
- Abnormal sensorimotor plasticity in organic but not in psychogenic dystonia
- (2009) A. Quartarone et al. BRAIN
- Bilateral pallidal stimulation in children and adolescents with primary generalized dystonia – Report of six patients and literature-based analysis of predictive outcomes variables
- (2009) Ingo Borggraefe et al. BRAIN & DEVELOPMENT
- Clinical and neurophysiological improvement of SGCE myoclonus–dystonia with GPi deep brain stimulation
- (2009) Monica M. Kurtis et al. CLINICAL NEUROLOGY AND NEUROSURGERY
- Is Psychopathology Part of the Phenotypic Spectrum of Myoclonus-dystonia?
- (2009) Elisabeth M. J. Foncke et al. Cognitive and Behavioral Neurology
- Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia
- (2009) D. Martino et al. EUROPEAN JOURNAL OF NEUROLOGY
- A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism
- (2009) P. Blanco-Arias et al. HUMAN MOLECULAR GENETICS
- Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence
- (2009) Daniele Ghezzi et al. HUMAN MOLECULAR GENETICS
- Interaction of TorsinA with Its Major Binding Partners Is Impaired by the Dystonia-associated ΔGAG Deletion
- (2009) Teresa V. Naismith et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A Case of Secondary Dystonia Responding to Levodopa
- (2009) Geneviève Bernard et al. JOURNAL OF CHILD NEUROLOGY
- Pilot Study on Trihexyphenidyl in the Treatment of Dystonia in Children With Cerebral Palsy
- (2009) James Rice et al. JOURNAL OF CHILD NEUROLOGY
- Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia
- (2009) N. Calakos et al. JOURNAL OF MEDICAL GENETICS
- Rapid-onset dystonia-parkinsonism: case report
- (2009) Marina Svetel et al. JOURNAL OF NEUROLOGY
- Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients
- (2009) I Trender-Gerhard et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Somatosensory temporal discrimination in patients with primary focal dystonia
- (2009) A Scontrini et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Cerebellothalamocortical Connectivity Regulates Penetrance in Dystonia
- (2009) M. Argyelan et al. JOURNAL OF NEUROSCIENCE
- Intraventricular baclofen for dystonia: techniques and outcomes
- (2009) A. Leland Albright et al. Journal of Neurosurgery-Pediatrics
- Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
- (2009) Susan B Bressman et al. LANCET NEUROLOGY
- Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
- (2009) Ana Djarmati et al. LANCET NEUROLOGY
- Bilateral pallidal deep brain stimulation for the treatment of patients with dystonia-choreoathetosis cerebral palsy: a prospective pilot study
- (2009) Marie Vidailhet et al. LANCET NEUROLOGY
- Dystonic storm due to Batten's disease treated with pallidotomy and deep brain stimulation
- (2009) Muruvet Elkay et al. MOVEMENT DISORDERS
- Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia
- (2009) Coro Paisán-Ruiz et al. MOVEMENT DISORDERS
- GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias
- (2009) Susanne A. Schneider et al. MOVEMENT DISORDERS
- Deep brain stimulation in acute management of status dystonicus
- (2009) Robert Jech et al. MOVEMENT DISORDERS
- TheTOR1Apolymorphism rs1182 and the risk of spread in primary blepharospasm
- (2009) Giovanni Defazio et al. MOVEMENT DISORDERS
- Factors predicting improvement in primary generalized dystonia treated by pallidal deep brain stimulation
- (2009) Xavier Vasques et al. MOVEMENT DISORDERS
- Myoclonus-dystonia: An update
- (2009) Kiyoka Kinugawa et al. MOVEMENT DISORDERS
- Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
- (2009) Tania Fuchs et al. NATURE GENETICS
- Primary dystonia: molecules and mechanisms
- (2009) Lauren M. Tanabe et al. Nature Reviews Neurology
- THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves
- (2009) Alex Sabogal et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Impaired striatal D2 receptor function leads to enhanced GABA transmission in a mouse model of DYT1 dystonia
- (2009) Giuseppe Sciamanna et al. NEUROBIOLOGY OF DISEASE
- THE D216H VARIANT IN THE DYT1 GENE: A SUSCEPTIBILITY FACTOR FOR DYSTONIA IN FAMILIAL CASES?
- (2009) N. Bruggemann et al. NEUROLOGY
- RAPID-ONSET DYSTONIA-PARKINSONISM IN A CHILD WITH A NOVEL ATP1A3 GENE MUTATION
- (2009) I. A. Anselm et al. NEUROLOGY
- Long-term effects of pallidal deep brain stimulation in tardive dystonia
- (2009) D. Gruber et al. NEUROLOGY
- Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia
- (2009) M. Carbon et al. NEUROLOGY
- Mutant torsinA interacts with tyrosine hydroxylase in cultured cells
- (2009) C.A. O'Farrell et al. NEUROSCIENCE
- Abnormal structure-function relationships in hereditary dystonia
- (2009) M. Carbon et al. NEUROSCIENCE
- Increased prevalence of val66met BDNF genotype among subjects with cervical dystonia
- (2009) Steven C. Cramer et al. NEUROSCIENCE LETTERS
- Myoclonus-Dystonia Due to Maternal Uniparental Disomy
- (2008) Émilie Guettard et al. ARCHIVES OF NEUROLOGY
- Outcome predictors of pallidal stimulation in patients with primary dystonia: the role of disease duration
- (2008) Ioannis U. Isaias et al. BRAIN
- Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
- (2008) A. Suls et al. BRAIN
- Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus–dystonia syndrome
- (2008) Alexis M. Kuncel et al. CLINICAL NEUROLOGY AND NEUROSURGERY
- Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration
- (2008) Mohamad A. Mikati et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope
- (2008) L. M. Giles et al. HUMAN MOLECULAR GENETICS
- Myoclonus-dystonia: significance of largeSGCEdeletions
- (2008) A. Grünewald et al. HUMAN MUTATION
- TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton
- (2008) F. C. Nery et al. JOURNAL OF CELL SCIENCE
- Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene
- (2008) C. Bonnet et al. JOURNAL OF HUMAN GENETICS
- Myoclonus-dystonia: clinical and genetic evaluation of a large cohort
- (2008) K Ritz et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
- (2008) B Zirn et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- [123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia–parkinsonism
- (2008) Paolo Zanotti-Fregonara et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient
- (2008) Philip Seibler et al. LANCET NEUROLOGY
- DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
- (2008) Sarah Camargos et al. LANCET NEUROLOGY
- Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ɛ-sarcoglycan mutations
- (2008) Deborah Raymond et al. MOVEMENT DISORDERS
- A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12
- (2008) E. Chouery et al. NEUROGENETICS
- Assessment: Botulinum neurotoxin for the treatment of movement disorders (an evidence-based review)
- (2008) D. M. Simpson et al. NEUROLOGY
- SUSCEPTIBILITY TO DYT1 DYSTONIA IN EUROPEAN PATIENTS IS MODIFIED BY THE D216H POLYMORPHISM
- (2008) C. Kamm et al. NEUROLOGY
- Disrupted thalamic prefrontal pathways in patients with idiopathic dystonia
- (2008) Leonardo Bonilha et al. PARKINSONISM & RELATED DISORDERS
- Treatment of focal dystonias with botulinum neurotoxin
- (2008) Mark Hallett et al. TOXICON
- Frequency of GCH1 deletions in Dopa-responsive dystonia
- (2007) B Zirn et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search