Citations for
1MT-ND1, WFSMT
The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy.
Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Salem IH, Charfi N, Abid M, Fakhfakh F.
Biochem Biophys Res Commun 411(2):247-52. Epub 2011 Jun 23. 2011
2WFSMT, LHON
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.
Hofmann S, et al.
Genomics 39 : 8-18. 1997
3WFSMT
Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome.
Hofmann S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B, Gerbitz KD.
Mol Cell Biochem 174(1-2):209-13. 1997
4WFSMT
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.
Barrientos A, et al.
J Clin Invest 97 : 1570-1576. 1996
5WFSMT, CD200
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.
Barrientos A, Casademont J, Saiz A, Cardellach F, Volpini V, Solans A, Tolosa E, Urbano-Marquez A, Estivill X, Nunes V.
Am J Hum Genet 58 : 963-970. 1996
6WFSMT
Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.
Collier DA, et al.
Am J Hum Genet 59 : 855-863. 1996
7WFSMT
Neurodegeneration and diabetes : UK nationwide study of Wolfram (DIDMOAD) syndrome.
Barrett TG, et al.
Lancet 346 : 1458-1463. 1995
8WFSMT
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).
Pilz D, et al.
J Med Genet 31 : 328-330. 1994
9WFSMT, WFS1, DIDMOAD
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4.
Polymeropoulos MH, et al.
Nat Genet 8 : 95-97. 1994
10WFSMT
Wolfram syndrome maps to distal human chromosome 4p. (abstr)
Polymeropoulos MH, et al.
Am J Hum Genet 55 : A200. 1994
11WFSMT
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
Rštig A, et al.
J Clin Invest 91 : 1095-1098. 1993
12WFSMT, CEOP
Mutations in mitochondrial tRNA genes : non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia.
Van den Ouweland JMW, et al.
Nucleic Acids Res 20 : 679-682. 1992