(Q37725916)

22 August 2017

Pathogenic variants in TUBB4A are not found in primary dystonia (English)

1 reference

22 August 2017

Satya R Vemula

1

1 reference

22 August 2017

Jianfeng Xiao

2

1 reference

22 August 2017

Robert W Bastian

3

1 reference

22 August 2017

Dragana Momčilović

4

1 reference

22 August 2017

Andrew Blitzer

5

1 reference

22 August 2017

Mark S LeDoux

6

1 reference

22 August 2017

language of work or name

English

0 references

publication date

5 March 2014

1 reference

22 August 2017

1 reference

22 August 2017

82

1 reference

22 August 2017

14

1 reference

22 August 2017

1227-1230

1 reference

Assessment of computational methods for predicting the effects of missense mutations in human cancers

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

Mutations in CIZ1 cause adult onset primary cervical dystonia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

MutationTaster evaluates disease-causing potential of sequence alterations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

A method and server for predicting damaging missense mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

High-resolution DNA melting analysis: advancements and limitations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

High-throughput mutational analysis of TOR1A in primary dystonia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

Refined structure of alpha beta-tubulin at 3.5 A resolution

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

Predicting deleterious amino acid substitutions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

Hereditary whispering dysphonia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

MicroTUB(B3)ules and brain development.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001202

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

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24598712

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000000294

1 reference

22 August 2017

1 reference

22 August 2017

PubMed publication ID

24598712

1 reference