(Q38113756)

29 August 2017

7 references

25 April 2019

20 June 2019

30 June 2019

14 September 2019

23 July 2020

10 September 2020

6 November 2020

Primary and secondary dystonic syndromes: an update (English)

1 reference

genetic predisposition to disease

29 August 2017

6 references

25 April 2019

20 June 2019

30 June 2019

14 September 2019

23 July 2020

6 November 2020

1 reference

14 September 2019

2 references

23 July 2020

10 September 2020

1 reference

6 November 2020

Kailash Phatechand Bhatia

series ordinal

2

object named as

Kailash P Bhatia

1 reference

29 August 2017

Gavin Charlesworth

1

1 reference

PMC publication ID

4196839

29 August 2017

language of work or name

1 reference

1 August 2013

7 references

29 August 2017

25 April 2019

20 June 2019

30 June 2019

14 September 2019

23 July 2020

6 November 2020

7

1 reference

Current Opinion in Neurology

inferred from page(s)

published in

7 references

29 August 2017

25 April 2019

20 June 2019

30 June 2019

14 September 2019

23 July 2020

6 November 2020

26

1 reference

29 August 2017

4

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29 August 2017

406-412

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Creative Commons Attribution

29 August 2017

5 references

25 April 2019

20 June 2019

30 June 2019

14 September 2019

6 November 2020

Creative Commons Attribution 4.0 International

1 reference

on focus list of Wikimedia project

23 July 2020

copyright status

copyrighted

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ScienceSource

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

The functional neuroimaging correlates of psychogenic versus organic dystonia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Mutations in GNAL cause primary torsion dystonia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Mutations in CIZ1 cause adult onset primary cervical dystonia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

The cerebellum in dystonia - help or hindrance?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

The non-motor syndrome of primary dystonia: clinical and pathophysiological implications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Ciz1 cooperates with cyclin-A-CDK2 to activate mammalian DNA replication in vitro

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Abnormal sensorimotor plasticity in organic but not in psychogenic dystonia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

The pathophysiological basis of dystonias.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Do primary adult-onset focal dystonias share aetiological factors?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

The diagnosis of dystonia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Hereditary whispering dysphonia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Child neurology: alternating hemiplegia of childhood

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

G(olf)alpha mediates dopamine D1 receptor signaling.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Exome sequencing for gene discovery: Time to set standard criteria

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4196839

Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23757263

12 December 2020

inferred from PubMed ID database lookup

Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23757263

12 December 2020

inferred from PubMed ID database lookup

Dystonia 2. Proceedings of the Second International Symposium on Torsion Dystonia. Harriman, New York, 1986

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23757263

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1097/WCO.0B013E3283633696

1 reference

29 August 2017

1 reference

PMC publication ID

4196839

29 August 2017

PubMed publication ID

23757263

1 reference

PMC publication ID

4196839