Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation (Q35135387)

6 August 2017

title

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation (English)

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6 August 2017

1 reference

11

Quinten Waisfisz

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Cas Simons

Cas Simons

12

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Nicole I Wolf

Nicole I Wolf

15

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Adeline Vanderver

Adeline Vanderver

3

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Carola G M van Berkel

10

Carola G M van Berkel

1 reference

6 August 2017

14

Truus E M Abbink

1 reference

6 August 2017

2

Emiel Polder

1 reference

6 August 2017

5

Raphael Schiffmann

1 reference

6 August 2017

Eline M Hamilton

1

1 reference

6 August 2017

Sakkubai Naidu

4

1 reference

6 August 2017

Kate Fisher

6

1 reference

6 August 2017

Ana Boban Raguž

7

1 reference

6 August 2017

Luba Blumkin

8

1 reference

6 August 2017

H-ABC Research Group

9

1 reference

6 August 2017

Ryan J Taft

13

1 reference

6 August 2017

Marjo S van der Knaap

16

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6 August 2017

language of work or name

English

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publication date

30 April 2014

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6 August 2017

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6 August 2017

volume

137

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6 August 2017

issue

Pt 7

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6 August 2017

page(s)

1921-1930

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

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

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

28 July 2018

1 reference

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β-Tubulin mutations that cause severe neuropathies disrupt axonal transport

28 July 2018

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

28 July 2018

1 reference

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Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities

28 July 2018

1 reference

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The N-end rule pathway: emerging functions and molecular principles of substrate recognition

28 July 2018

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

28 July 2018

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A method and server for predicting damaging missense mutations

28 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

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

28 July 2018

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

28 July 2018

1 reference

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

Refined structure of alpha beta-tubulin at 3.5 A resolution

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

How Taxol stabilises microtubule structure.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

Structure of the alpha beta tubulin dimer by electron crystallography

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

Dynamic instability of microtubule growth

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

Structural differences between brain beta 1- and beta 2-tubulins: implications for microtubule assembly and colchicine binding

28 July 2018

1 reference

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Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T.

28 July 2018

1 reference

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In vivo microtubules are copolymers of available beta-tubulin isotypes: localization of each of six vertebrate beta-tubulin isotypes using polyclonal antibodies elicited by synthetic peptide antigens

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

Hypomyelination with atrophy of the basal ganglia and cerebellum: case report

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

High-resolution model of the microtubule

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4345790

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

27 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU110

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24785942

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Structural variations in protein superfamilies: actin and tubulin

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24785942

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24785942

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWU110

1 reference

6 August 2017

1 reference

6 August 2017

1 reference