(Q28689107)

1

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Andreas Puschmann

2

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Jianfeng Xiao

3

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Yu Zhao

4

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Monika Rudzińska

5

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Karen P Frei

6

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Daniel D Truong

7

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Mark S LeDoux

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

9

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language of work or name

English

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publication date

15 June 2013

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published in

Human Molecular Genetics

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volume

22

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issue

12

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page(s)

2510-9

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

A method and server for predicting damaging missense mutations

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Cerebellothalamocortical connectivity regulates penetrance in dystonia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

The basal ganglia and cerebellum interact in the expression of dystonic movement

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Clustal W and Clustal X version 2.0

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

WebGestalt: an integrated system for exploring gene sets in various biological contexts

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Predicting deleterious amino acid substitutions

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Gene ontology: tool for the unification of biology

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

KEGG: kyoto encyclopedia of genes and genomes

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Mice deficient in G(olf) are anosmic

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

MutationTaster evaluates disease-causing potential of sequence alterations

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Mutations in GNAL cause primary torsion dystonia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

The genetics of dystonias

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Phosphorylation of histone H3 Ser10 establishes a hierarchy for subsequent intramolecular modification events

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Mutations in CIZ1 cause adult onset primary cervical dystonia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

3 June 2018

Dystonia: phenomenology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

An African-American family with dystonia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Animal models of dystonia: Lessons from a mutant rat.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Novel THAP1 sequence variants in primary dystonia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Climbing fiber signaling and cerebellar gain control

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Histone H3 phosphorylation is under the opposite tonic control of dopamine D2 and adenosine A2A receptors in striatopallidal neurons.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

cAMP signaling induces rapid loss of histone H3 phosphorylation in mammary adenocarcinoma-derived cell lines.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

G-protein Golfalpha (GNAL) is expressed in the vestibular end organs and primary afferent neurons of Rattus norvegicus

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Activation of adenylyl cyclases, regulation of insulin status, and cell survival by G(alpha)olf in pancreatic beta-cells.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Search for a founder mutation in idiopathic focal dystonia from Northern Germany

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Evidence for locus heterogeneity in autosomal dominant torsion dystonia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Development of the University of Pennsylvania Smell Identification Test: a standardized microencapsulated test of olfactory function.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Concept and classification of dystonia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Idiopathic cervical dystonia: clinical characteristics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658169

Minimum incidence of primary cervical dystonia in a multiethnic health care population.

3 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT102

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT102

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/10.1093%2FHMG%2FDDT102

Three brothers with a very-late-onset writer's cramp

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT102

Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT102

Unbalanced whole arm translocation resulting in loss of 18p in dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT102

Characteristics of dystonia in the 18p deletion syndrome, including a new case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT102

Dystonia in a patient with deletion of 18p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT102

Abnormal spontaneous and harmaline-stimulated Purkinje cell activity in the awake genetically dystonic rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT102

A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3.

21 January 2018

1 reference

12 December 2020

Phenotypic overlap in familial and sporadic primary adult-onset extracranial dystonia

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?

1 reference

12 December 2020

Sporadic focal dystonia in northwest Germany: molecular basis on chromosome 18p

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

Myoclonus-dystonia in 18p deletion syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDT102

1 reference

1 reference

1 reference

PubMed publication ID

23449625

1 reference