Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q34937804

about

Inherited defects in thyroid hormone cell-membrane transport and metabolism Genetic disorders of thyroid metabolism and brain development The syndromes of reduced sensitivity to thyroid hormone Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution Minireview: thyroid hormone transporters: the knowns and the unknowns.A FOXG1 mutation in a boy with congenital variant of Rett syndrome.Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.New mutation of pelizaeus--merzbacher-like disease; a report from iran.The burden of inherited leukodystrophies in children.MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information.The use of next-generation sequencing in movement disorders High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.Glial progenitor cell-based treatment of the childhood leukodystrophies.Childhood leukodystrophies: a clinical perspective.Systematic approaches to central nervous system myelin.Advances in the diagnosis of leukoencephalopathies.Thyroid hormone transporters--functions and clinical implications.Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.Thyroid Hormone Signaling in Oligodendrocytes: from Extracellular Transport to Intracellular Signal.Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.Understanding the hypothalamus-pituitary-thyroid axis in mct8 deficiency.Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.Neuroimaging in Cockayne syndrome.White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination.Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.

P2860

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P2860

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

http://www.wikidata.org/entity/Q34937804

description

2009 nî lūn-bûn

@nan

2009 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2009 թվականի հունվարին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

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

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

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

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type

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

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

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

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

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

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

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P1433

Annals of Neurology

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

@en

P2093

Angela F Brady

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Bernard Dan

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Catherine Sarret

http://www.w3.org/2001/XMLSchema#string

Catherine Vaurs-Barrière

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Geneviève Giraud

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Giuseppe De Michele

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José-Maria Prats-Viñas

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Marlène Deville

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Odile Boespflug-Tanguy

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Renaud Touraine

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114-118

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scholarly article

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10.1002/ANA.21579

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1

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65

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2009-01-01T00:00:00Z

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19194886

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