(Q48461808)

11 February 2018

title

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. (English)

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11 February 2018

Allan-Herndon-Dudley syndrome

main subject

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3

Bernard Brais

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Geneviève Bernard

series ordinal

4

object named as

Genevieve Bernard

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11 February 2018

2

Michel Vanasse

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11 February 2018

Roberta La Piana

series ordinal

1

object named as

Roberta La Piana

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11 February 2018

publication date

7 November 2014

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11 February 2018

Journal of Child Neurology

published in

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11 February 2018

volume

30

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11 February 2018

issue

10

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11 February 2018

page(s)

1371-1374

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11 February 2018

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

Hypomyelination versus delayed myelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073814555189

21 January 2018

Identifiers

DOI

10.1177/0883073814555189

1 reference

11 February 2018

1 reference

11 February 2018