Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging.
about
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calciumWfs1 gene deletion causes growth retardation in mice and interferes with the growth hormone pathwayExpression and localization of Wolfram syndrome 1 gene in the developing rat pancreasWolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual systemNeuroimaging evidence of deficient axon myelination in Wolfram syndrome.Imaging of the brain in children with type I diabetes mellitus.Early brain vulnerability in Wolfram syndrome.Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndromeEURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.Balance impairment in individuals with Wolfram syndromeWolfram syndrome - clinical and diagnostic details.Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndromeWolfram syndrome: important implications for pediatricians and pediatric endocrinologists.Hypothalamic gene expression profile indicates a reduction in G protein signaling in the Wfs1 mutant mice.Silencing of the WFS1 gene in HEK cells induces pathways related to neurodegeneration and mitochondrial damage.WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells.Wolfram (DIDMOAD) syndrome.Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila.Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome.A clinical case study of a Wolfram syndrome-affected family: pattern-reversal visual evoked potentials and electroretinography analysis.
P2860
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P2860
Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging.
description
1992 nî lūn-bûn
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1992年の論文
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1992年学术文章
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1992年学术文章
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name
Wolfram syndrome: evidence of ...... by magnetic resonance imaging.
@en
Wolfram syndrome: evidence of ...... by magnetic resonance imaging.
@nl
type
label
Wolfram syndrome: evidence of ...... by magnetic resonance imaging.
@en
Wolfram syndrome: evidence of ...... by magnetic resonance imaging.
@nl
prefLabel
Wolfram syndrome: evidence of ...... by magnetic resonance imaging.
@en
Wolfram syndrome: evidence of ...... by magnetic resonance imaging.
@nl
P2093
P356
P1433
P1476
Wolfram syndrome: evidence of ...... by magnetic resonance imaging.
@en
P2093
P304
P356
10.1212/WNL.42.6.1220
P407
P577
1992-06-01T00:00:00Z