-
1
-
-
0028808309
-
Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
-
Barrett TG, Bundey SE, Macleod AF: Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 346:1458-1463, 1995
-
(1995)
Lancet
, vol.346
, pp. 1458-1463
-
-
Barrett, T.G.1
Bundey, S.E.2
Macleod, A.F.3
-
2
-
-
1942505270
-
Diabetes mellitus and optic atrophy: A study of Wolfram syndrome in the Lebanese population
-
Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, Permutt A, Halaby G: Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. J Clin Endocrinol Metab 89:1656-1661, 2004
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 1656-1661
-
-
Medlej, R.1
Wasson, J.2
Baz, P.3
Azar, S.4
Salti, I.5
Loiselet, J.6
Permutt, A.7
Halaby, G.8
-
3
-
-
17344362695
-
A gene encoding a transmembrane protein in mutated patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
-
Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA: A gene encoding a transmembrane protein in mutated patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20:143-148, 1998
-
(1998)
Nat Genet
, vol.20
, pp. 143-148
-
-
Inoue, H.1
Tanizawa, Y.2
Wasson, J.3
Behn, P.4
Kalidas, K.5
Bernal-Mizrachi, E.6
Mueckler, M.7
Marshall, H.8
Donis-Keller, H.9
Crock, P.10
Rogers, D.11
Mikuni, M.12
Kumashiro, H.13
Higashi, K.14
Sobue, G.15
Oka, Y.16
Permutt, M.A.17
-
4
-
-
27744523525
-
Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis
-
Riggs AC, Bernal-Mizrachi E, Ohsugi M, Wasson J, Fatrai S, Welling C, Murray J, Schmidt RE, Herrera PL, Permutt MA: Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis. Diabetologia 48:2313-2321, 2005
-
(2005)
Diabetologia
, vol.48
, pp. 2313-2321
-
-
Riggs, A.C.1
Bernal-Mizrachi, E.2
Ohsugi, M.3
Wasson, J.4
Fatrai, S.5
Welling, C.6
Murray, J.7
Schmidt, R.E.8
Herrera, P.L.9
Permutt, M.A.10
-
5
-
-
18444415128
-
Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome
-
Pakdemirli E, Karabulut N, Bir LS, Sermez Y: Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome. Australas Radiol 49:189-191, 2005
-
(2005)
Australas Radiol
, vol.49
, pp. 189-191
-
-
Pakdemirli, E.1
Karabulut, N.2
Bir, L.S.3
Sermez, Y.4
-
6
-
-
0037234663
-
An uncommon genetic syndrome with acute renal failure in a 30-year-old diabetic patient
-
Piccoli GB, Mezza E, Jeantet A, Segoloni JP: An uncommon genetic syndrome with acute renal failure in a 30-year-old diabetic patient. Nephrol Dial Transplant 18: 206-208, 2003
-
(2003)
Nephrol Dial Transplant
, vol.18
, pp. 206-208
-
-
Piccoli, G.B.1
Mezza, E.2
Jeantet, A.3
Segoloni, J.P.4
-
7
-
-
0038240706
-
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay
-
Colosimo A, Guida V, Rigoli L, Di Bella C, De Luca A, Briuglia S, Stuppia L, Salpietro DC, Dallapiccola B: Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. Hum Mutat 21:622-629, 2003
-
(2003)
Hum Mutat
, vol.21
, pp. 622-629
-
-
Colosimo, A.1
Guida, V.2
Rigoli, L.3
Di Bella, C.4
De Luca, A.5
Briuglia, S.6
Stuppia, L.7
Salpietro, D.C.8
Dallapiccola, B.9
-
8
-
-
0035318814
-
Identification of Novel WFS1 Mutations in Italian Children With Wolfram Syndrome
-
Tessa A, Carbone I, Matteoli MC, Bruno C, Patrono C, Patera IP, De Luca F, Lorini R, Santorelli FM: Identification of Novel WFS1 Mutations in Italian Children With Wolfram Syndrome. Hum Mutat 7:348-349, 2001
-
(2001)
Hum Mutat
, vol.7
, pp. 348-349
-
-
Tessa, A.1
Carbone, I.2
Matteoli, M.C.3
Bruno, C.4
Patrono, C.5
Patera, I.P.6
De Luca, F.7
Lorini, R.8
Santorelli, F.M.9
-
9
-
-
3342905028
-
Phenotype-genotype correlations in a series of Wolfram syndrome families
-
Smith CJ, Crock PA, King BR, Meldrum CJ, Scott RJ: Phenotype-genotype correlations in a series of Wolfram syndrome families. Diabetes Care 27:2003-2009, 2004
-
(2004)
Diabetes Care
, vol.27
, pp. 2003-2009
-
-
Smith, C.J.1
Crock, P.A.2
King, B.R.3
Meldrum, C.J.4
Scott, R.J.5
-
10
-
-
22244462119
-
Wolfram syndrome: How much could knowledge challenge the fate? A case report
-
Fabbri LP, Nucera M, Grippo A, Menicucci A, De Feo ML, Becchi C, Al Malyan M: Wolfram syndrome: how much could knowledge challenge the fate? A case report. Med Sci Monit 11:CS40-CS44, 2005
-
(2005)
Med Sci Monit
, vol.11
-
-
Fabbri, L.P.1
Nucera, M.2
Grippo, A.3
Menicucci, A.4
De Feo, M.L.5
Becchi, C.6
Al Malyan, M.7
-
11
-
-
24644480656
-
Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells
-
Philbrook C, Fritz E, Weiher H: Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells. Exper Gerontol 40:671-678, 2005
-
(2005)
Exper Gerontol
, vol.40
, pp. 671-678
-
-
Philbrook, C.1
Fritz, E.2
Weiher, H.3
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