A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

(2014) Orazio Palumbo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A clinical case study of a Wolfram syndrome–affected family: pattern-reversal visual evoked potentials and electroretinography analysis

(2012) Ewa Langwińska-Wośko et al.   DOCUMENTA OPHTHALMOLOGICA

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

Retinal ganglion cell death induced by endoplasmic reticulum stress in a chronic glaucoma model

(2009) Sang Hee Doh et al.   BRAIN RESEARCH

ISCEV standard for clinical visual evoked potentials (2009 update)

(2009) J. Vernon Odom et al.   DOCUMENTA OPHTHALMOLOGICA

Crystal Structure of Miner1: The Redox-active 2Fe-2S Protein Causative in Wolfram Syndrome 2

(2009) Andrea R. Conlan et al.   JOURNAL OF MOLECULAR BIOLOGY