Results 81 to 90 of about 1,298,739 (158)

Psychiatric disorders in Wolfram syndrome heterozygotes

, 1998
Wolfram syndrome is an autosomal recessive disorder caused by a gene on the short arm of chromosome 4 and characterized by a range of neurological, psychiatric and behavioural abnormalities.
Owen, Michael John
core   +2 more sources

Endoplasmic reticulum-mitochondria lockdown in Wolfram syndrome

Wolfram syndrome (WS) is an incurable autosomal recessive disorder originally described as a mitochondriopathy. In a recent work, Liiv and colleagues found that an impaired endoplasmic reticulum (ER)-to-mitochondria calcium shuttling underlies ...
Filadi, Riccardo, Pizzo, Paola
core   +1 more source

The Effect of Fetal Liver-derived Cell Suspension Allotransplantation on Patients with Wolfram Syndrome: the First Year of Follow-up

Iranian Journal of Public Health, 2015
Background: Cell therapy has emerged as a promising curative intervention for several diseases including diabetes and Wolfram Syndrome (WS). The current study aimed to assess the effectiveness of clinical application of fetal-liver derived stem cells for
Ensieh NASLI ESFAHANI, Maryam GHODSI, Ali TOOTEE, Camelia RAMBOD, Bagher LARIJANI, Akbar SOLTANI   +5 more
doaj  

ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome

Nature Communications
Wolfram syndrome is a rare genetic disease caused by mutations in the WFS1 or CISD2 gene. A primary defect in Wolfram syndrome involves poor ER Ca2+ handling, but how this disturbance leads to the disease is not known.
Mailis Liiv, Annika Vaarmann, Dzhamilja Safiulina, Vinay Choubey, Ruby Gupta, Malle Kuum, Lucia Janickova, Zuzana Hodurova, Michal Cagalinec, Akbar Zeb, Miriam A. Hickey, Yi-Long Huang, Nana Gogichaishvili, Merle Mandel, Mario Plaas, Eero Vasar, Jens Loncke, Tim Vervliet, Ting-Fen Tsai, Geert Bultynck, Vladimir Veksler, Allen Kaasik   +21 more
doaj   +1 more source

Abstracts of 14th International Symposium on Hodgkin Lymphoma

HemaSphere, Volume 10, Issue S2, October 2026.
wiley   +1 more source

Prevalence and Severity of Vision Loss in Wolfram Syndrome

Wolfram syndrome is a predominantly autosomal recessive condition with classic symptoms consisting of juvenile-onset diabetes mellitus, diabetes insipidus, sensorineural hearing loss, and optic atrophy. Not all patients with Wolfram syndrome will present
Yunshuo Tang; Fumihiko Urano; Gregory Van Stavern
core  

Unveiling the pathophysiological basis and developing a gene therapy approach for Wolfram syndrome

Wolfram syndrome: investigating the visual phenotype of Wolfram mice models, the functionality of wolframin protein, and the role of astrocytes in the pathology; developing a AAV vector-based gene therapy to treat the optic atrophy in Wolfram mice ...
VANNI, NICCOLÒ NATANAELE
core  

Franz Wolfram Scherer, Minnedank

FRANZ WOLFRAM SCHERER, MINNEDANK Franz Wolfram Scherer, Minnedank ( -
Franz Wolfram Scherer
core  

A Case of Wolfram Syndrome

Journal of Ophthalmic & Vision Research, 2010
Purpose: To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. Case Report: A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both
Gholamali Naderian, Fereshteh Ashtari, Kia Nouri-Mahdavi, Valleh Sajjadi   +3 more
doaj  

Brief von Wolfram Elsner an Kurt Rothschild

BRIEF VON WOLFRAM ELSNER AN KURT ROTHSCHILD Brief von Wolfram Elsner an Kurt Rothschild ([1]
Elsner, Wolfram
core   +1 more source