Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families - Wikidata - awgldk - TriplyDB

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families

http://www.wikidata.org/entity/Q24538688

about

Uptake and transport of high-density lipoprotein (HDL) and HDL-associated alpha-tocopherol by an in vitro blood-brain barrier model Afamin is synthesized by cerebrovascular endothelial cells and mediates alpha-tocopherol transport across an in vitro model of the blood-brain barrier Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency Friedreich ataxia: an overview More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes Effects of vitamin E on cognitive performance during ageing and in Alzheimer's disease Intracellular transport of fat-soluble vitamins A and E CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W Impaired α-TTP-PIPs interaction underlies familial vitamin E deficiency Ataxia.Vitamin E in human health and disease Increased atherosclerosis in hyperlipidemic mice deficient in alpha -tocopherol transfer protein and vitamin E Autosomal recessive cerebellar ataxias.Mice lacking alpha-tocopherol transfer protein gene have severe alpha-tocopherol deficiency in multiple regions of the central nervous system Cross-species analyses identify the BNIP-2 and Cdc42GAP homology (BCH) domain as a distinct functional subclass of the CRAL_TRIO/Sec14 superfamily Hepatic α-tocopherol transfer protein: ligand-induced protection from proteasomal degradation.Tocopherol transfer protein sensitizes prostate cancer cells to vitamin E.Development of lipophilic cations as therapies for disorders due to mitochondrial dysfunction.Nutrigenomics of extra-virgin olive oil: A review.EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.Vitamin E and D regulation of allergic asthma immunopathogenesis.The 80th anniversary of vitamin E: beyond its antioxidant properties.Epilepsy in a patient with ataxia caused by vitamin E deficiency.Ataxia with vitamin e deficiency in norway.Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Pathways to motor incoordination: the inherited ataxias.Composition, structure and absorption of milk lipids: a source of energy, fat-soluble nutrients and bioactive molecules.Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation.Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia Structural consequences of mutations to the α-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency Association of variants in two vitamin e transport genes with circulating vitamin e concentrations and prostate cancer risk Two faces of vitamin E in the lung.Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich's Ataxia.Vitamin E is essential for Purkinje neuron integrity.Vitamin E deficiency in developing countries.Vitamin E and Phosphoinositides Regulate the Intracellular Localization of the Hepatic α-Tocopherol Transfer Protein.Vitamin E dietary supplementation improves neurological symptoms and decreases c-Abl/p73 activation in Niemann-Pick C mice Reliability of phenotypic early-onset ataxia assessment: a pilot study.Vitamin E and Alzheimer's Disease-Is It Time for Personalized Medicine?

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Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families

http://www.wikidata.org/entity/Q24538688

description

1998 nî lūn-bûn

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1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

1998 թվականի փետրվարին հրատարակված գիտական հոդված

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1998年の論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年论文

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Ataxia with isolated vitamin E ...... in a large number of families

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Ataxia with isolated vitamin E ...... in a large number of families

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Ataxia with isolated vitamin E ...... in a large number of families

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Ataxia with isolated vitamin E ...... in a large number of families

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Ataxia with isolated vitamin E ...... in a large number of families

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Ataxia with isolated vitamin E ...... in a large number of families

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Ataxia with isolated vitamin E ...... in a large number of families

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American Journal of Human Genetics

P1476

Ataxia with isolated vitamin E ...... in a large number of families

@en

P2093

H J Kayden

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

K Ouahchi

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L Cavalier

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L Reutenauer

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M Koenig

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S Di Donato

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P2860

Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization

Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families

Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

Clinical and genetic abnormalities in patients with Friedreich's ataxia

Isolated vitamin E deficiency and progressive ataxia.

Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver.

Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

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301-10

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scholarly article

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1576748

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10.1086/301699

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2

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62

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Jean-Louis Mandel

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1998-02-01T00:00:00Z

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13768173

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9463307

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P921

vitamin deficiency

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1376876

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