(Q34129815)

31 July 2017

title

TUBB4A de novo mutations cause isolated hypomyelination (English)

1 reference

31 July 2017

17

Geneviève Bernard

1 reference

31 July 2017

20

Adeline Vanderver

1 reference

Jennifer Louise Patrick Murphy

31 July 2017

Jennifer Louise Patrick Murphy

8

0 references

Guy Helman

Guy Helman

4

0 references

Cas Simons

Cas Simons

19

0 references

Hakon Hakonarson

11

Hakon Hakonarson

1 reference

31 July 2017

6

Kether Guerrero

1 reference

31 July 2017

Amy Pizzino

1

1 reference

31 July 2017

Tyler Mark Pierson

2

1 reference

31 July 2017

Yiran Guo

3

1 reference

31 July 2017

Sebastian Fortini

5

1 reference

31 July 2017

Sulagna Saitta

7

1 reference

31 July 2017

Quasar Padiath

9

1 reference

31 July 2017

Yi Xie

10

1 reference

31 July 2017

Xun Xu

12

1 reference

31 July 2017

Tara Funari

13

1 reference

31 July 2017

Michelle Fox

14

1 reference

31 July 2017

Ryan J Taft

15

1 reference

31 July 2017

Marjo S van der Knaap

16

1 reference

31 July 2017

Raphael Schiffmann

18

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 August 2014

1 reference

31 July 2017

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31 July 2017

volume

83

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31 July 2017

issue

10

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31 July 2017

page(s)

898-902

1 reference

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

31 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=4153852

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153852

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153852

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153852

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153852

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153852

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153852

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153852

Refined structure of alpha beta-tubulin at 3.5 A resolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153852

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4153852

10.1212/WNL.0000000000000754

28 July 2018

Identifiers

DOI

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31 July 2017

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31 July 2017

1 reference