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

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

Item
http://www.wikidata.org/entity/Q43265524
Inherited defects in thyroid hormone cell-membrane transport and metabolismGenetic disorders of thyroid metabolism and brain developmentThe syndromes of reduced sensitivity to thyroid hormoneAltered behavioral performance and live imaging of circuit-specific neural deficiencies in a zebrafish model for psychomotor retardationMCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.Increased oxidative metabolism and neurotransmitter cycling in the brain of mice lacking the thyroid hormone transporter SLC16A2 (MCT8)SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.Pharmacological treatment and BBB-targeted genetic therapy for MCT8-dependent hypomyelination in zebrafish.Episodic movement disorders: from phenotype to genotype and back.Thyroid hormone transporters--functions and clinical implications.Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice.Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.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

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

Item
http://www.wikidata.org/entity/Q43265524
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
White matter abnormalities and ...... mutations in the SLC16A2 gene.
@en
White matter abnormalities and ...... mutations in the SLC16A2 gene.
@nl
type
label
White matter abnormalities and ...... mutations in the SLC16A2 gene.
@en
White matter abnormalities and ...... mutations in the SLC16A2 gene.
@nl
prefLabel
White matter abnormalities and ...... mutations in the SLC16A2 gene.
@en
White matter abnormalities and ...... mutations in the SLC16A2 gene.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
White matter abnormalities and ...... mutations in the SLC16A2 gene.
@en
P2093
P2860
P304
P31
P356
10.1111/J.1469-8749.2009.03471.X
P433
P478
P50
P577
P5875
P698
P932