Results 131 to 140 of about 1,298,739 (158)

Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population. [PDF]

Front Pediatr
Halabi I, Tenenbaum-Rakover Y, Sagi-Dain L, Koren I.   +3 more
europepmc   +1 more source

Beyond Vision and Hearing: A Case Report of Wolfram Syndrome. [PDF]

Cureus
U J, Santhanam J, Rm R, Saideekshit T, Sn MS.   +4 more
europepmc   +1 more source

Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease. [PDF]

Genes (Basel)
Caruso V, Raia A, Rigoli L.
europepmc   +1 more source

Continuous glycemic monitoring in managing diabetes in adult patients with wolfram syndrome. [PDF]

Acta Diabetol
Zmysłowska A, Grzybowska-Adamowicz J, Michalak A, Wykrota J, Szadkowska A, Młynarski W, Fendler W.   +6 more
europepmc   +1 more source

SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome. [PDF]

J Endocrinol Invest
Frontino G, Delvecchio M, Prudente S, Sordi VD, Barboni P, Di Giamberardino A, Rutigliano A, Pellegrini S, Caretto A, Cascavilla ML, Bonfanti R, D'Annunzio G, Lombardo F, Piemonti L.   +13 more
europepmc   +1 more source

Wolfram syndrome 2 gene (CISD2) deficiency disrupts Ca²⁺-mediated insulin secretion in β-cells. [PDF]

Mol Metab
Shen ZQ, Chiu WT, Kao CH, Chen YC, Chen LH, Teng TW, Hsiung SY, Tzeng TY, Tung CY, Juan CC, Tsai TF.   +10 more
europepmc   +1 more source

Current Landscape of Treatments for Wolfram Syndrome [PDF]

Trends in Pharmacological Sciences, 2019
Wolfram syndrome is a rare genetic spectrum disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration, and ranges from mild to severe clinical symptoms. There is currently no treatment to delay,
Fumihiko Urano, Damien Abreu
exaly   +2 more sources

Mutation Screening of the Wolfram Syndrome Gene in Psychiatric Patients

Molecular Psychiatry, 2001
Wolfram syndrome, a rare autosomal recessive neurodegenerative disorder, was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy.
S Beratis, D Collier, M H Polymeropoulos
exaly   +2 more sources