Early brain vulnerability in Wolfram syndrome. - Wikidata - awgldk - TriplyDB

Early brain vulnerability in Wolfram syndrome.

Early brain vulnerability in Wolfram syndrome.

http://www.wikidata.org/entity/Q34336601

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Wolfram Syndrome: Diagnosis, Management, and Treatment Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.Tunicamycin-induced unfolded protein response in the developing mouse brain.Selective cognitive and psychiatric manifestations in Wolfram Syndrome.Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome Glycemic variability in patients with Wolfram syndrome is lower than in type 1 diabetes.Early presentation of gait impairment in Wolfram Syndrome.Reliability and validity of the Wolfram Unified Rating Scale (WURS).Phenotypic characteristics of early Wolfram syndrome Wolfram syndrome iPS cells: the first human cell model of endoplasmic reticulum disease Zika Virus as an Emerging Neuropathogen: Mechanisms of Neurovirulence and Neuro-Immune Interactions.Mitochondrial dynamics in the regulation of neurogenesis: From development to the adult brain.Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration.Mania in Wolfram's Disease: From Bedside to Bench.The effects of disease-related symptoms on daily function in Wolfram Syndrome.Understanding activity participation among individuals with Wolfram Syndrome.Reduced Intracranial Volume in Fabry Disease: Evidence of Abnormal Neurodevelopment?

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Early brain vulnerability in Wolfram syndrome.

http://www.wikidata.org/entity/Q34336601

description

2012 nî lūn-bûn

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2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2012 թվականի հուլիսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

Early brain vulnerability in Wolfram syndrome.

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Early brain vulnerability in Wolfram syndrome.

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Early brain vulnerability in Wolfram syndrome.

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Early brain vulnerability in Wolfram syndrome.

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Early brain vulnerability in Wolfram syndrome.

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Early brain vulnerability in Wolfram syndrome.

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Early brain vulnerability in Wolfram syndrome.

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Early brain vulnerability in Wolfram syndrome.

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Early brain vulnerability in Wolfram syndrome.

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JOURNAL.PONE.0040604

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Early brain vulnerability in Wolfram syndrome.

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Alex R Paciorkowski

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Dana C Perantie

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Heather M Lugar

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Jerrel Rutlin

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Jonathan M Koller

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Joshua S Shimony

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M Alan Permutt

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Sarah A Eisenstein

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Tamara Hershey

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

Washington University Wolfram Study Group

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P2860

Joubert Syndrome and related disorders

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

Disorders of the Cerebellum: Ataxia, Dysmetria of Thought, and the Cerebellar Cognitive Affective Syndrome

WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites.

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein

MR diffusion tensor spectroscopy and imaging

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait

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e40604

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scholarly article

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10.1371/JOURNAL.PONE.0040604

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