White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene (Q43265524)

27 February 2018

title

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene (English)

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27 February 2018

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14

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27 February 2018

author name string

Artemis D Gika

1

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27 February 2018

Ata Siddiqui

2

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27 February 2018

Anthony J Hulse

3

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27 February 2018

Selvakumari Edward

4

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27 February 2018

Penny Fallon

5

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27 February 2018

Meriel E McEntagart

6

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27 February 2018

Wajanat Jan

7

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27 February 2018

Dragana Josifova

8

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27 February 2018

James Drummond

10

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27 February 2018

Edward Thompson

11

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27 February 2018

Samuel Refetoff

12

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27 February 2018

Carsten G Bönnemann

13

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27 February 2018

publication date

7 October 2009

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27 February 2018

Developmental Medicine and Child Neurology

published in

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27 February 2018

volume

52

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27 February 2018

issue

5

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27 February 2018

page(s)

475-482

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27 February 2018

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

cites work

1 reference

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Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects

25 May 2018

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Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.

25 May 2018

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Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination

25 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine.

25 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8

25 May 2018

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Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism

25 May 2018

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X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype

25 May 2018

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Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene

25 May 2018

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X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene

25 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

25 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8.

15 August 2018

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1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency

15 August 2018

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A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay

15 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Thyroid hormone participates in the regulation of neural stem cells and oligodendrocyte precursor cells in the central nervous system of adult rat.

15 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Magnetic resonance imaging of brain and the neuromotor disorder in endemic cretinism

15 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Metabolic alterations in the neonate and infant brain during development: evaluation with proton MR spectroscopy.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Thyroid hormone and remyelination in adult central nervous system: a lesson from an inflammatory-demyelinating disease

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5800746

Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22?

3 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19811520

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Thyroid hormone deficiency changes the distribution of oligodendrocyte/myelin markers during oligodendroglial differentiation in vitro

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19811520

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1469-8749.2009.03471.X

1 reference

27 February 2018

PMC publication ID

5800746

1 reference

27 February 2018

PubMed publication ID

19811520

1 reference

27 February 2018