Associated Papers
Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.
Rohayem J et al.
Andrology, 2026
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.
Hull S et al.
Ophthalmic Genetics, 2025
Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic.
Gilhooley MJ et al.
Genes, 2024
Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.
Lopes CP et al.
Archives of Endocrinology and Metabolism, 2024
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
Lee EM et al.
Frontiers in Genetics, 2023
37415600 (PubMed )
Supplement: DataSheet1.XLSX › Supplementary_Materials
Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.
Zhang X et al.
Investigative Ophthalmology & Visual Science, 2022
WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India.
Chapla A et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
Hu K et al.
Journal of Medical Genetics, 2022
A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.
Abreu D et al.
Jci Insight, 2021
34185708 (PubMed )
Supplement: jciinsight-6-145188-s152.pdf
Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis.
Wragg R et al.
Journal of Pediatric Surgery, 2018
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
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