Genetics in dystonia: an update (Q26866453)

Laurie J. Ozelius

series ordinal

2

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language of work or name

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December 2013

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Current Neurology and Neuroscience Reports

published in

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volume

13

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issue

12

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page(s)

410

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

cites work

1 reference

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

21 March 2017

1 reference

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Cloning and characterization of a novel p21(Cip1/Waf1)-interacting zinc finger protein, ciz1

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

A prevalence study of primary dystonia in eight European countries

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

21 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

21 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Mice deficient in G(olf) are anosmic

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Golf: an olfactory neuron specific-G protein involved in odorant signal transduction

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Ciz1 promotes mammalian DNA replication

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Phenomenology and classification of dystonia: a consensus update

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

PRRT2 mutations and paroxysmal disorders.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Mutations in GNAL cause primary torsion dystonia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Psychiatric disorders in rapid-onset dystonia-parkinsonism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Mutations in CIZ1 cause adult onset primary cervical dystonia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Exome sequencing: dual role as a discovery and diagnostic tool

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

28 September 2017

Milestones in dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Cancer-associated missplicing of exon 4 influences the subnuclear distribution of the DNA replication factor CIZ1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Do primary adult-onset focal dystonias share aetiological factors?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Investigation of the G protein subunit Galphaolf gene (GNAL) in attention deficit/hyperactivity disorder.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

The prevalence of primary dystonia in the general community

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Galpha(olf) is necessary for coupling D1 and A2a receptors to adenylyl cyclase in the striatum

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Evidence for locus heterogeneity in autosomal dominant torsion dystonia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Microtubules and microtubule-associated proteins

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Epidemiology of focal and generalized dystonia in Rochester, Minnesota

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Hereditary whispering dysphonia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

Autoregulated changes in stability of polyribosome-bound beta-tubulin mRNAs are specified by the first 13 translated nucleotides

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

G(olf) in the basal ganglia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3877920

31 May 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

Adult onset familial cervical dystonia: report of a family including monozygotic twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

Primary torsion dystonia: the search for genes is not over.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

Quantitative changes in Galphaolf protein levels, but not D1 receptor, alter specifically acute responses to psychostimulants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

Persistent increase in olfactory type G-protein alpha subunit levels may underlie D1 receptor functional hypersensitivity in Parkinson disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

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

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

Exome sequencing for gene discovery: Time to set standard criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

Autoregulated instability of β-tubulin mRNAs by recognition of the nascent amino terminus of βtubulin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-013-0410-Z

Adenosine A(2A) receptors are colocalized with and activate g(olf) in rat striatum

21 January 2018

1 reference

12 December 2020

Human G(olf) gene polymorphisms and vulnerability to bipolar disorder

1 reference

12 December 2020

Alternating hemiplegia of childhood

1 reference

12 December 2020

DYT7 gene locus for cervical dystonia on chromosome 18p is questionable

1 reference

12 December 2020

Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution

1 reference

12 December 2020

Clinical spectrum of disease associated with ATP1A3 mutations

1 reference

12 December 2020

Classification of dystonia

1 reference

12 December 2020

10.1007/S11910-013-0410-Z

Identifiers

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Dimensions Publication ID

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PubMed publication ID

24136457

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