MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. (Q34135484)

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8 February 2020

title

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features (English)

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8 February 2020

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extrapyramidal symptoms

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1

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8 February 2020

Adeline Vanderver

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8 February 2020

Angela Berardinelli

3

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8 February 2020

Francesca Novara

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8 February 2020

Orsetta Zuffardi

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Umberto Balottin

12

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Simona Orcesi

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author name string

Johanna L Schmidt

4

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8 February 2020

Christin D Collins

5

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8 February 2020

Antonia Di Genni

7

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Alda Mita

8

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8 February 2020

Fabio Triulzi

9

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8 February 2020

Janice E Brunstrom-Hernandez

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publication date

17 July 2012

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Journal of Child Neurology

8 February 2020

published in

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volume

28

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issue

6

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page(s)

795-800

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

8 February 2020

cites work

1 reference

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

5 July 2018

1 reference

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Minireview: Pathophysiological importance of thyroid hormone transporters

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4155008

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4155008

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4155008

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4155008

Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities

5 July 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450944

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%2F0883073812450944

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450944

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450944

1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450944

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450944

Hypomyelination versus delayed myelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812450944

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%2F0883073812450944

21 January 2018

Identifiers

DOI

10.1177/0883073812450944

1 reference

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8 February 2020

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8 February 2020

PubMed publication ID

22805248

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