http://orcid.org/0000-0002-1747-0928
References
- Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies—disease mechanisms and therapeutic strategies. Prog Retin Eye Res 2011;30:81–114.
- Tranebjærg L, Barrett T, Rendtorff ND. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, eds. WFS1-Related Disorders. GeneReviews®. Seattle, WA: University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1116/. Accessed September 16, 2016.
- Marshall BA, Permutt MA, Paciorkowski AR, Hoekel J, Karzon R, Wasson J, Viehover A, White NH, Shimony JS, Manwaring L, Austin P, Hullar TE, Hershey T; Washington University Wolfram Study Group. Phenotypic characteristics of early Wolfram syndrome. Orphanet J Rare Dis 2013;8:64.
- Hoekel J, Chisholm SA, Al-Lozi A, Hershey T, Tychsen L; Washington University Wolfram Study Group. Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome. J AAPOS 2014;18:461–465.
- Yu-Wai-Man P, Shankar SP, Biousse V, Miller NR, Bean LJ, Coffee B, Hegde M, Newman NJ. Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. Ophthalmology 2011;118:558–563.
- Barrett TG, Bundey SE. Wolfram (DIDMOAD) syndrome. J Med Genet 1997;34:838–841.
- Rohayem J, Ehlers C, Wiedemann B, Holl R, Oexle K, Kordonouri O, Salzano G, Meissner T, Burger W, Schober E, Huebner A, Lee-Kirsch MA; Wolfram Syndrome Diabetes Writing Group. Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care 2011;34:1503–1510.
- Barrett TG. Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered? Pediatr Diabetes 2007;8(Suppl 6):15–23.
- Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat 2003;22:275–287.
- d’Annunzio G, Minuto N, D’Amato E, de Toni T, Lombardo F, Pasquali L, Lorini R. Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study. Diabetes Care 2008;31:1743–1745.
- Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V; French Group of Wolfram Syndrome, Vialettes B. Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. Am J Med Genet A 2007;143A:1605–1612.
- Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjaerg L, Rosenberg T. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Eur J Hum Genet 2005;13:1275–1284.
- Rötig A, Cormier V, Chatelain P, Francois R, Saudubray JM, Rustin P, Munnich A. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 1993;91:1095–1098.
- Barrett TG, Scott-Brown M, Seller A, Bednarz A, Poulton K, Poulton J. The mitochondrial genome in Wolfram syndrome. J Med Genet 2000;37:463–466.