标题
Dystonia
作者
关键词
-
出版物
CURRENT OPINION IN NEUROLOGY
Volume 27, Issue 4, Pages 468-476
出版商
Ovid Technologies (Wolters Kluwer Health)
发表日期
2014-06-30
DOI
10.1097/wco.0000000000000114
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
- (2014) Joanne Ng et al. BRAIN
- Paroxysmal exercise-induced dystonia due to GLUT1 mutation can be responsive to levodopa: a case report
- (2014) Francesca Baschieri et al. JOURNAL OF NEUROLOGY
- Cognitive impairment in rapid-onset dystonia-parkinsonism
- (2014) Jared F. Cook et al. MOVEMENT DISORDERS
- Heterogeneity in primary dystonia: Lessons fromTHAP1,GNAL, andTOR1Ain Amish-Mennonites
- (2014) Rachel Saunders-Pullman et al. MOVEMENT DISORDERS
- Genotype-phenotype correlations in alternating hemiplegia of childhood
- (2014) M. Sasaki et al. NEUROLOGY
- ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia
- (2014) U.-M. Sheerin et al. NEUROLOGY
- Pathogenic variants in TUBB4A are not found in primary dystonia
- (2014) S. R. Vemula et al. NEUROLOGY
- The expanding clinical and genetic spectrum of ATP1A3-related disorders
- (2014) H. Rosewich et al. NEUROLOGY
- A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
- (2014) Michelle K Demos et al. Orphanet Journal of Rare Diseases
- Mutations inGNAL
- (2014) Kishore R. Kumar et al. JAMA Neurology
- A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
- (2013) Cas Simons et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Bilateral pallidal stimulation in cervical dystonia: blinded evidence of benefit beyond 5 years
- (2013) Richard A. Walsh et al. BRAIN
- Primary and secondary dystonic syndromes
- (2013) Gavin Charlesworth et al. CURRENT OPINION IN NEUROLOGY
- Asystole in alternating hemiplegia with de novo ATP1A3 mutation
- (2013) Jan Novy et al. European Journal of Medical Genetics
- Primary dystonias and genetic disorders with dystonia as clinical feature of the disease
- (2013) Narges Moghimi et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Role of Gα(olf) in familial and sporadic adult-onset primary dystonia
- (2013) Satya R. Vemula et al. HUMAN MOLECULAR GENETICS
- The multiple faces of theATP1A3-related dystonic movement disorder
- (2013) Anne Roubergue et al. MOVEMENT DISORDERS
- The syndrome of deafness-dystonia: Clinical and genetic heterogeneity
- (2013) Maja Kojovic et al. MOVEMENT DISORDERS
- No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families
- (2013) Lingyan Ma et al. MOVEMENT DISORDERS
- Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel
- (2013) Kin Y. Mok et al. MOVEMENT DISORDERS
- No pathogenicGNALmutations in 192 sporadic and familial cases of cervical dystonia
- (2013) Gavin Charlesworth et al. MOVEMENT DISORDERS
- Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria
- (2013) Miryam Carecchio et al. MOVEMENT DISORDERS
- Medical treatment of dystonia
- (2013) Joseph Jankovic MOVEMENT DISORDERS
- Phenomenology and classification of dystonia: A consensus update
- (2013) Alberto Albanese et al. MOVEMENT DISORDERS
- Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls
- (2013) Michael Zech et al. MOVEMENT DISORDERS
- Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes
- (2013) Victor S. C. Fung et al. MOVEMENT DISORDERS
- Surgical treatment of myoclonus dystonia syndrome
- (2013) Anand I. Rughani et al. MOVEMENT DISORDERS
- Ataxia telangiectasia presenting as dopa-responsive cervical dystonia
- (2013) G. Charlesworth et al. NEUROLOGY
- Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis
- (2012) Gavin Charlesworth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in CIZ1 cause adult onset primary cervical dystonia
- (2012) Jianfeng Xiao et al. ANNALS OF NEUROLOGY
- Whispering dysphonia (DYT4 dystonia) is caused by a mutation in theTUBB4gene
- (2012) Katja Lohmann et al. ANNALS OF NEUROLOGY
- Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia
- (2012) Joshua Hersheson et al. ANNALS OF NEUROLOGY
- ATP1A3mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia
- (2012) ALLISON BRASHEAR et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Efficacy and Safety of Deep Brain Stimulation in Patients With Medication-Induced Tardive Dyskinesia and/or Dystonia
- (2012) Charlotte L. Mentzel et al. JOURNAL OF CLINICAL PSYCHIATRY
- Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study
- (2012) D. Martino et al. JOURNAL OF NEUROLOGY
- Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in theTITF1/NKX2-1gene
- (2012) Domitille Gras et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Clinical spectrum of disease associated with ATP1A3 mutations
- (2012) Laurie J Ozelius LANCET NEUROLOGY
- Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial
- (2012) Jens Volkmann et al. LANCET NEUROLOGY
- Mutations in GNAL cause primary torsion dystonia
- (2012) Tania Fuchs et al. NATURE GENETICS
- Psychiatric disorders in rapid-onset dystonia-parkinsonism
- (2012) A. Brashear et al. NEUROLOGY
- Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency
- (2012) M. Stamelou et al. NEUROLOGY
- Long Disease Duration Interferes With Therapeutic Effect of Globus Pallidus Internus Pallidal Stimulation in Primary Cervical Dystonia
- (2012) Kazumichi Yamada et al. NEUROMODULATION
- Shorter Disease Duration Correlates With Improved Long-term Deep Brain Stimulation Outcomes in Young-Onset DYT1 Dystonia
- (2012) Leslie C. Markun et al. NEUROSURGERY
- The Autosomal Recessive Cerebellar Ataxias
- (2012) Mathieu Anheim et al. NEW ENGLAND JOURNAL OF MEDICINE
- New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism
- (2012) Richard L. Barbano et al. PARKINSONISM & RELATED DISORDERS
- Pallidal deep brain stimulation for DYT6 dystonia
- (2011) Fedor Panov et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Inclusion and exclusion criteria for DBS in dystonia
- (2011) Helen Bronte-Stewart et al. MOVEMENT DISORDERS
- Expanding the phenomenology of benign hereditary chorea: Evolution from chorea to myoclonus and dystonia
- (2011) Melissa J. Armstrong et al. MOVEMENT DISORDERS
- Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
- (2011) Robert A. Wilcox et al. MOVEMENT DISORDERS
- Classification of movement disorders
- (2011) Stanley Fahn MOVEMENT DISORDERS
- The neural substrates of rapid-onset Dystonia-Parkinsonism
- (2011) D Paola Calderon et al. NATURE NEUROSCIENCE
- Overview of primary monogenic dystonia
- (2011) Marianna Spatola et al. PARKINSONISM & RELATED DISORDERS
- Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
- (2010) M. A. Willemsen et al. BRAIN
- EFNS guidelines on diagnosis and treatment of primary dystonias
- (2010) A. Albanese et al. EUROPEAN JOURNAL OF NEUROLOGY
- Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain
- (2010) Pernille Bøttger et al. JOURNAL OF COMPARATIVE NEUROLOGY
- 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
- DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation
- (2010) Justus L. Groen et al. MOVEMENT DISORDERS
- Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families
- (2010) Simone Zittel et al. MOVEMENT DISORDERS
- Stereotactic MRI in Dyt1 Dystonia: Focal Signal Abnormalities in the Basal Ganglia Do Not Contraindicate Deep Brain Stimulation
- (2008) S. Gavarini et al. STEREOTACTIC AND FUNCTIONAL NEUROSURGERY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started