Results 21 to 30 of about 1,298,739 (158)

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, Evan M. Lee, Evan M. Lee, Megha Verma, Megha Verma, Nila Palaniappan, Nila Palaniappan, Emiko M. Pope, Sammie Lee, Lindsey Blacher, Pooja Neerumalla, William An, Toko Campbell, Cris Brown, Stacy Hurst, Bess Marshall, Tamara Hershey, Virginia Nunes, Virginia Nunes, Miguel López de Heredia, Fumihiko Urano, Fumihiko Urano   +21 more
doaj   +1 more source

Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome

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, Sarah A. Eisenstein, Raveena S. Boodram, Courtney L. Sutphen, Heather M. Lugar, Brian A. Gordon, Brian A. Gordon, Bess A. Marshall, Bess A. Marshall, Fumihiko Urano, Fumihiko Urano, Fumihiko Urano, Anne M. Fagan, Anne M. Fagan, Anne M. Fagan, Tamara Hershey, Tamara Hershey, Tamara Hershey   +17 more
doaj   +1 more source

Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells

Frontiers in Endocrinology, 2022
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and progressive neurodegeneration.
Shuntaro Morikawa, Shuntaro Morikawa, Lindsey Blacher, Chinyere Onwumere, Fumihiko Urano, Fumihiko Urano   +5 more
doaj   +1 more source

Taste and smell function in Wolfram syndrome

Orphanet Journal of Rare Diseases, 2020
Background Wolfram syndrome is a rare genetic disease characterized by insulin-dependent diabetes, optic nerve atrophy, sensorineural hearing loss and neurodegeneration.
Raul Alfaro, Tasha Doty, Anagha Narayanan, Heather Lugar, Tamara Hershey, M. Yanina Pepino   +5 more
doaj   +1 more source

Multidimensional analysis and therapeutic development using patient iPSC–derived disease models of Wolfram syndrome

JCI Insight, 2022
Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested by diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration.
Rie Asada Kitamura, Kristina G. Maxwell, Wenjuan Ye, Kelly Kries, Cris M. Brown, Punn Augsornworawat, Yoel Hirsch, Martin M. Johansson, Tzvi Weiden, Joseph Ekstein, Joshua Cohen, Justin Klee, Kent Leslie, Anton Simeonov, Mark J. Henderson, Jeffrey R. Millman, Fumihiko Urano   +16 more
doaj   +1 more source

Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects

Journal of Ophthalmic & Vision Research, 2021
Purpose: To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family. Methods: Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three
Mehraban Mirrahimi, Sare Safi, Maryam Mohammadzadeh, Azadeh Doozandeh, Fatemeh Suri   +4 more
doaj   +1 more source

Case Report: Off-Label Liraglutide Use in Children With Wolfram Syndrome Type 1: Extensive Characterization of Four Patients

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, Giulio Frontino, Tara Raouf, Tara Raouf, Daniele Canarutto, Daniele Canarutto, Daniele Canarutto, Eva Tirelli, Eva Tirelli, Raffaella Di Tonno, Raffaella Di Tonno, Andrea Rigamonti, Andrea Rigamonti, Maria Lucia Cascavilla, Cristina Baldoli, Roberta Scotti, Letizia Leocani, Letizia Leocani, Su-Chun Huang, Franco Meschi, Franco Meschi, Graziano Barera, Vania Broccoli, Greta Rossi, Silvia Torchio, Raniero Chimienti, Riccardo Bonfanti, Riccardo Bonfanti, Lorenzo Piemonti, Lorenzo Piemonti   +29 more
doaj   +1 more source

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report

Journal of Medical Case Reports, 2023
Background Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic manifestations.
Maryem Sahli, Abdelali Zrhidri, Imad Boualaoui, Imane Cherkaoui Jaouad, Youssef El Kadiri, Yassine Nouini, Abdelaziz Sefiani   +6 more
doaj   +1 more source

A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome

JCI Insight, 2021
BACKGROUND Wolfram syndrome is a rare ER disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration.
Damien Abreu, Stephen I. Stone, Toni S. Pearson, Robert C. Bucelli, Ashley N. Simpson, Stacy Hurst, Cris M. Brown, Kelly Kries, Chinyere Onwumere, Hongjie Gu, James Hoekel, Lawrence Tychsen, Gregory P. Van Stavern, Neil H. White, Bess A. Marshall, Tamara Hershey, Fumihiko Urano   +16 more
doaj   +1 more source

Neurologic Features of Wolfram Syndrome [PDF]

, 2011
Researchers at Nice, Marseille, and Montpellier-Nimes, France, studied the nature and frequency of neurologic manifestations in 59 patients with Wolfram syndrome with genotype-phenotype ...
J Gordon Millichap
core   +1 more source