Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort.
Esteban-Bueno G et al.
Diagnostics (basel, Switzerland), 2025
Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome.
Bouhouche A et al.
Genetic Testing and Molecular Biomarkers, 2024
Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.
Sahli M et al.
Journal of Medical Case Reports, 2023
Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.
Esteban-Bueno G et al.
Healthcare (basel, Switzerland), 2023
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
Lee EM et al.
Frontiers in Genetics, 2023
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome.
Sobhani M et al.
Endocrine, 2019
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
De Franco E et al.
Diabetes, 2017
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Grenier J et al.
Ophthalmology, 2016
[Familial Wolfram syndrome].
Bessahraoui M et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2014
Phenotypic characteristics of early Wolfram syndrome.
Marshall BA et al.
Orphanet Journal of Rare Diseases, 2013
Neurologic features and genotype-phenotype correlation in Wolfram syndrome.
Chaussenot A et al.
Annals of Neurology, 2011
WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.
Yu G et al.
Endocrine, 2010
Neurological picture. Wolfram syndrome associated with leukoencephalopathy.
Labauge P et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin.
Hofmann S et al.
Febs Letters, 2006
Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.
Hofmann S et al.
Human Molecular Genetics, 2003
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.
Colosimo A et al.
Human Mutation, 2003
Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells.
Philbrook C et al.
Experimental Gerontology, 0