• <em>WFS1</em> Spectrum Disorder
• A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1
• A Wolfram-like syndrome family: Case report
• Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms
• Case Report: A novel mutation in <em>WFS1</em> gene (c.1756G&gt;A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke
• Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum
• Efficacy of GLP-1 Agonist Therapy in Autosomal Dominant WFS1-Related Disorder: A Case Report
• Evaluation of a Less Invasive Cochlear Implant Surgery in <em>OPA1</em> Mutations Provoking Deafblindness
• Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T&gt;C (p.Cys490Arg) variant
• Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment
• Novel missense <em>WFS1</em> variant causing autosomal dominant atypical Wolfram syndrome
• Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome
• Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia
• Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
• The human OPA1^delTTAG mutation induces adult onset and progressive auditory neuropathy in mice
• The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies
• WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome
• WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome
• Wolfram Syndrome 1: From Genetics to Therapy
• Wolfram-like syndrome - another face of a rare disease in children
• Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
• Wolfram-like syndrome: a case report