Results 1 to 10 of about 1,212,597 (189)
Evaluating the use of GLP-1 receptor agonists in Wolfram syndrome patients [PDF]
Frontiers in EndocrinologyIntroductionWolfram syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the WFS1 gene and characterized by early-onset, insulin-dependent diabetes mellitus, optic atrophy, sensorineural hearing loss, arginine vasopressin ...
Laura A. Lee +13 more
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WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome [PDF]
Acta Neuropathologica CommunicationsWolfram syndrome is a rare childhood neurodegenerative disease characterized by diabetes followed by severe and rapid optic atrophy leading to blindness before the age of 20.
Jolanta Jagodzinska +7 more
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Neurofilament light chain but not glial fibrillary acidic protein serum levels are elevated in Wolfram syndrome [PDF]
Frontiers in NeuroscienceBackgroundWolfram syndrome is a rare genetic disorder caused by pathogenic variants in the WFS1 gene. Progressive neurodegeneration, a key feature of the disease, is an important target of current and future clinical trials.
Matthew J. Jansen +14 more
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Frontiers in Pediatrics, 2021 Aims: Wolfram syndrome type 1 is a rare recessive monogenic form of insulin-dependent diabetes mellitus with progressive neurodegeneration, poor prognosis, and no cure.
Giulio Frontino +29 more
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Clinical trials for Wolfram syndrome neurodegeneration: Novel design, endpoints, and analysis models. [PDF]
PLoS ONEObjectiveWolfram syndrome, an ultra-rare condition, currently lacks effective treatment options. The rarity of this disease presents significant challenges in conducting clinical trials, particularly in achieving sufficient statistical power (e.g., 80%).
Guoqiao Wang +4 more
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A case of a young patient with progressive vision loss: An atypical presentation of the rare Wolfram Syndrome in a Middle Eastern individual [PDF]
American Journal of Ophthalmology Case ReportsPurpose: To describe an atypical presentation of a rare disease in a young middle eastern woman with a relatively adult-onset type 1 diabetes mellitus, bilateral optic atrophy and progressive decreased vision diagnosed as the Wolfram disease. Observation:
Meishar Meisel +4 more
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Wolfram Syndrome Type I Case Report and Review—Focus on Early Diagnosis and Genetic Variants [PDF]
MedicinaBackground and Objectives: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children.
Alexandru Daniel Jurca +6 more
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Brain Sciences, 2023 Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness.
Ruben Jauregui +9 more
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Frontiers in Neuroscience, 2022 Wolfram syndrome is a rare disease caused by pathogenic variants in the WFS1 gene with progressive neurodegeneration. As an easily accessible biomarker of progression of neurodegeneration has not yet been found, accurate tracking of the neurodegenerative
Sarah A. Eisenstein +17 more
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Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
Frontiers in Genetics, 2023 Objective: Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss.
Evan M. Lee +21 more
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