Isolated and combined dystonia syndromes - an update on new genes and their phenotypes (Q38341164)

2 September 2017

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title

Isolated and combined dystonia syndromes - an update on new genes and their phenotypes (English)

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2 September 2017

B Balint

1

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2 September 2017

K P Bhatia

series ordinal

2

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2 September 2017

publication date

29 January 2015

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European Journal of Neurology

2 September 2017

number of pages

8

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based on heuristic

inferred from page(s)

published in

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2 September 2017

volume

22

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2 September 2017

issue

4

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2 September 2017

page(s)

610-617

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Phenomenology and classification of dystonia: a consensus update

2 September 2017

cites work

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Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes

21 January 2018

1 reference

Mutations in CIZ1 cause adult onset primary cervical dystonia

21 January 2018

1 reference

Mutations in GNAL cause primary torsion dystonia

21 January 2018

1 reference

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

21 January 2018

1 reference

No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families.

21 January 2018

1 reference

The phenotypic spectrum of DYT24 due to ANO3 mutations

21 January 2018

1 reference

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

21 January 2018

1 reference

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia

21 January 2018

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Mutations in GNAL: a novel cause of craniocervical dystonia

21 January 2018

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Mutation screening of GNAL gene in patients with primary dystonia from Northeast China.

21 January 2018

1 reference

Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites

21 January 2018

1 reference

No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia

21 January 2018

1 reference

Mice deficient in G(olf) are anosmic

21 January 2018

1 reference

Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal

21 January 2018

1 reference

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

21 January 2018

1 reference

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

21 January 2018

1 reference

Pathogenic variants in TUBB4A are not found in primary dystonia

21 January 2018

1 reference

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

21 January 2018

1 reference

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

21 January 2018

1 reference

NovelTUBB4Amutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

21 January 2018

1 reference

TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum

21 January 2018

1 reference

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease

21 January 2018

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Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy

21 January 2018

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TUBB4A de novo mutations cause isolated hypomyelination

21 January 2018

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Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies

21 January 2018

1 reference

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

21 January 2018

1 reference

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

21 January 2018

1 reference

Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.

21 January 2018

1 reference

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

21 January 2018

1 reference

A novel locus for inherited myoclonus-dystonia on 18p11.

21 January 2018

1 reference

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

21 January 2018

1 reference

Mutations in TITF-1 are associated with benign hereditary chorea

21 January 2018

1 reference

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

21 January 2018

1 reference

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

21 January 2018

1 reference

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

21 January 2018

1 reference

X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.

21 January 2018

1 reference

Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?

21 January 2018

1 reference

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

21 January 2018

1 reference

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family

21 January 2018

1 reference

Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?

21 January 2018

1 reference

A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities

21 January 2018

1 reference

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

21 January 2018

1 reference

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

21 January 2018

1 reference

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

21 January 2018

1 reference

PET imaging of the pre-synaptic dopamine uptake sites in rapid-onset dystonia-parkinsonism (RDP).

21 January 2018

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Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism

21 January 2018

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ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

21 January 2018

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The multiple faces of the ATP1A3-related dystonic movement disorder.

21 January 2018

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Cognitive impairment in rapid-onset dystonia-parkinsonism

21 January 2018

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Psychiatric disorders in rapid-onset dystonia-parkinsonism

21 January 2018

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New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

21 January 2018

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A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

21 January 2018

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Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome

21 January 2018

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Genotype-phenotype correlations in alternating hemiplegia of childhood.

21 January 2018

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Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet

21 January 2018

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Asystole in alternating hemiplegia with de novo ATP1A3 mutation

21 January 2018

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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

21 January 2018

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The neural substrates of rapid-onset Dystonia-Parkinsonism

21 January 2018

1 reference

Abnormal high-frequency burst firing of cerebellar neurons in rapid-onset dystonia-parkinsonism

21 January 2018

1 reference

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

21 January 2018

1 reference

Complicated recessive dystonia parkinsonism syndromes

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/ENE.12650

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release_4dudd47yovctrieyca2h57am4u

2 September 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/4dudd47yovctrieyca2h57am4u

mapped directly with Wikidata item

24 November 2022

based on heuristic

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