Cris Brown
YOU?
Author Swipe
Natural history of patients with autosomal dominant<i>WFS1</i>pathogenic variants associated with sensorineural hearing loss and optic atrophy Open
Objective Autosomal dominant pathogenic variants in the WFS1 gene can cause a broad spectrum of WFS1-related disorders. These disorders present with a range of phenotypic manifestations, including isolated low-frequency sensorineural heari…
View article: Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders Open
Objective: Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. We sought to elucidate the relationship between genot…
View article: Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders
Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders Open
Objective Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. We sought to elucidate the relationship between genoty…
View article: Multidimensional analysis and therapeutic development using patient iPSC–derived disease models of Wolfram syndrome
Multidimensional analysis and therapeutic development using patient iPSC–derived disease models of Wolfram syndrome Open
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. Recent genetic and clinical findings have revea…
View article: Genotype-phenotype correlation analysis and therapeutic development using a patient stem cell-derived disease model of Wolfram syndrome
Genotype-phenotype correlation analysis and therapeutic development using a patient stem cell-derived disease model of Wolfram syndrome Open
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. Recent genetic and clinical findings have revea…
A phase 1b/2a clinical trial of dantrolene sodium in patients with Wolfram syndrome Open
BACKGROUNDWolfram syndrome is a rare ER disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Although there is no treatment for Wolfram syndrome, preclinical studies in cell…
A Phase 1b/2a Clinical Trial of Dantrolene Sodium in Patients with Wolfram Syndrome Open
Background Wolfram syndrome is a rare endoplasmic reticulum disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Although there is currently no treatment to delay, halt, or …