(Q33645665)

28 July 2017

title

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

1 reference

hypomyelinating leukodystrophy

28 July 2017

main subject

1 reference

Shawn M Purnell

1

1 reference

28 July 2017

Steven B Bleyl

series ordinal

2

1 reference

28 July 2017

Joshua L Bonkowsky

series ordinal

3

1 reference

28 July 2017

publication date

10 February 2014

1 reference

28 July 2017

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28 July 2017

volume

50

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28 July 2017

issue

6

1 reference

28 July 2017

page(s)

608-611

1 reference

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029864

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029864

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029864

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029864

Childhood leukodystrophies: a clinical perspective.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029864

The burden of inherited leukodystrophies in children

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029864

Invited article: an MRI-based approach to the diagnosis of white matter disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029864

Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029864

Refined structure of alpha beta-tubulin at 3.5 A resolution

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029864

Update on genetic disorders affecting white matter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029864

Leukodystrophies: pathogenesis, diagnosis, strategies, therapies, and future research directions

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24742798

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.PEDIATRNEUROL.2014.01.051

1 reference

28 July 2017

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28 July 2017

1 reference