Associated Papers
Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.
Rosanio FM et al.
International Journal of Environmental Research and Public Health, 2022
Uniting the divergent Wolfram syndrome-linked proteins WFS1 and CISD2 as modulators of Ca2+ signaling.
Loncke J et al.
Science Signaling, 2021
Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.
Ren Z et al.
Bmc Endocrine Disorders, 2021
Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome.
Zhang Y et al.
Orphanet Journal of Rare Diseases, 2019
Generation of Human-Induced Pluripotent Stem Cells from Wolfram Syndrome Type 2 Patients Bearing the c.103 + 1G>A CISD2 Mutation for Disease Modeling.
La Spada A et al.
Stem Cells and Development, 2018
Pluripotent Stem Cell-Based Approaches to Explore and Treat Optic Neuropathies.
Rabesandratana O et al.
Frontiers in Neuroscience, 2018
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.
Cattaneo M et al.
Bmc Medical Genetics, 2017
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Rouzier C et al.
Human Molecular Genetics, 2017
Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.
Beheshtian M et al.
Archives of Iranian Medicine, 2016
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