Isolated and combined dystonia syndromes - an update on new genes and their phenotypes
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF NEUROLOGY
Volume 22, Issue 4, Pages 610-617
Publisher
Wiley
Online
2015-01-30
DOI
10.1111/ene.12650
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus–Merzbacher disease
- (2015) Keiko Shimojima et al. BRAIN & DEVELOPMENT
- NovelTUBB4Amutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
- (2014) Carlos Ferreira et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation
- (2014) Eline M. Hamilton et al. BRAIN
- TUBB4A novel mutation reinforces the genotype–phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum
- (2014) Daniel Carvalho et al. BRAIN
- Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
- (2014) Joanne Ng et al. BRAIN
- CACNA1B mutation is linked to unique myoclonus-dystonia syndrome
- (2014) J. L. Groen et al. HUMAN MOLECULAR GENETICS
- SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype
- (2014) Kathryn J. Peall et al. JOURNAL OF NEUROLOGY
- Abnormal High-Frequency Burst Firing of Cerebellar Neurons in Rapid-Onset Dystonia-Parkinsonism
- (2014) R. Fremont et al. JOURNAL OF NEUROSCIENCE
- Cognitive impairment in rapid-onset dystonia-parkinsonism
- (2014) Jared F. Cook et al. MOVEMENT DISORDERS
- De novo mutation in theGNALgene causing seemingly sporadic dystonia in a Serbian patient
- (2014) Valerija Dobričić et al. MOVEMENT DISORDERS
- Screening of mutations inGNALin sporadic dystonia patients
- (2014) Claudia Dufke et al. MOVEMENT DISORDERS
- DYT16 revisited: Exome sequencing identifiesPRKRAmutations in a European dystonia family
- (2014) Michael Zech et al. MOVEMENT DISORDERS
- H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
- (2014) Roberto Erro et al. MOVEMENT DISORDERS
- The phenotypic spectrum of DYT24 due to ANO3 mutations
- (2014) Maria Stamelou et al. MOVEMENT DISORDERS
- Heterogeneity in primary dystonia: Lessons fromTHAP1,GNAL, andTOR1Ain Amish-Mennonites
- (2014) Rachel Saunders-Pullman et al. MOVEMENT DISORDERS
- Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome
- (2014) H. Rosewich et al. NEUROLOGY
- Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism
- (2014) S. Fornarino et al. NEUROLOGY
- Genotype-phenotype correlations in alternating hemiplegia of childhood
- (2014) M. Sasaki et al. NEUROLOGY
- TUBB4A de novo mutations cause isolated hypomyelination
- (2014) A. Pizzino et al. NEUROLOGY
- Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies
- (2014) S. Miyatake 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
- Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy
- (2014) Shawn M. Purnell et al. PEDIATRIC NEUROLOGY
- Woman With X-Linked Recessive Dystonia-Parkinsonism
- (2014) Aloysius Domingo et al. JAMA Neurology
- 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
- Asystole in alternating hemiplegia with de novo ATP1A3 mutation
- (2013) Jan Novy et al. European Journal of Medical Genetics
- Role of Gα(olf) in familial and sporadic adult-onset primary dystonia
- (2013) Satya R. Vemula et al. HUMAN MOLECULAR GENETICS
- Dystonic opisthotonus: A “red flag” for neurodegeneration with brain iron accumulation syndromes?
- (2013) Maria Stamelou et al. MOVEMENT DISORDERS
- The multiple faces of theATP1A3-related dystonic movement disorder
- (2013) Anne Roubergue et al. MOVEMENT DISORDERS
- No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families
- (2013) Lingyan Ma et al. MOVEMENT DISORDERS
- No pathogenicGNALmutations in 192 sporadic and familial cases of cervical dystonia
- (2013) Gavin Charlesworth et al. MOVEMENT DISORDERS
- A novel presentation of DYT 16: Acute onset in infancy and association with MRI abnormalities
- (2013) Monica E. Lemmon 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
- X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome
- (2013) Ana Westenberger et al. 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
- Mutation screening of GNAL gene in patients with primary dystonia from Northeast China
- (2013) Jing Miao et al. PARKINSONISM & RELATED DISORDERS
- Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet
- (2013) Adriana Ulate-Campos et al. PEDIATRIC 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
- 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
- DYT16: the original cases: Figure 1
- (2012) Sarah Camargos et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study
- (2012) Hendrik Rosewich et al. LANCET NEUROLOGY
- Mutations in GNAL cause primary torsion dystonia
- (2012) Tania Fuchs et al. NATURE GENETICS
- De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
- (2012) Erin L Heinzen 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
- New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism
- (2012) Richard L. Barbano et al. PARKINSONISM & RELATED DISORDERS
- A new familial syndrome with dystonia and lower limb action myoclonus
- (2011) Justus Groen 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
- The neural substrates of rapid-onset Dystonia-Parkinsonism
- (2011) D Paola Calderon et al. NATURE NEUROSCIENCE
- 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
- Complicated recessive dystonia parkinsonism syndromes
- (2009) Susanne A. Schneider et al. MOVEMENT DISORDERS
- [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
- 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
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 MoreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now