(Q28288876)

English

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

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scholarly article

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

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object named as

Davide Tonduti

11

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object named as

Cas Simons

1

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Joanna Crawford

object named as

Joanna Crawford

7

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Adeline Vanderver

object named as

Adeline Vanderver

21

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object named as

Nicole I Wolf

2

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object named as

Sean M Grimmond

9

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10

object named as

David Miller

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author name string

Nathan McNeil

3

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Ljubica Caldovic

4

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Joseph M Devaney

5

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Asako Takanohashi

6

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Kelin Ru

8

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Johanna L Schmidt

12

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Robert S Chudnow

13

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Rudy van Coster

14

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Lieven Lagae

15

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Jill Kisler

16

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Jürgen Sperner

17

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Marjo S van der Knaap

18

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Raphael Schiffmann

19

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Ryan J Taft

20

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language of work or name

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publication date

2 May 2013

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American Journal of Human Genetics

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92

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5

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767-73

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

20 March 2017

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

20 March 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

20 March 2017

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

20 March 2017

A gene atlas of the mouse and human protein-encoding transcriptomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

20 March 2017

Refined structure of alpha beta-tubulin at 3.5 A resolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

20 March 2017

Sequence of an expressed human beta-tubulin gene containing ten Alu family members

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

20 March 2017

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

7 April 2017

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

7 April 2017

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

29 September 2017

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

29 September 2017

Ribonuclease H: the enzymes in eukaryotes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

29 September 2017

Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

29 September 2017

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

2 June 2018

The cerebrospinal fluid level of 5-methylterahydrofolate in a Japanese boy with hypomyelination with atrophy of the basal ganglia and cerebellum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

2 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

2 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

2 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

27 November 2018

Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

27 November 2018

Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

27 November 2018

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

27 November 2018

Mutations in the Caenorhabditis elegans beta-tubulin gene mec-7: effects on microtubule assembly and stability and on tubulin autoregulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644625

27 November 2018

Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23582646

12 December 2020

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Identifiers

10.1016/J.AJHG.2013.03.018

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release_wmj633tymnaefa4tqcohu7oiye

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