-
1
-
-
0030927245
-
Molecular mechanisms in mitochondrial DNA depletion syndrome
-
J.W. Taanman, A.G. Bodnar, J.M. Cooper, A.A. Morris, P.T. Clayton, and J.V. Leonard Molecular mechanisms in mitochondrial DNA depletion syndrome Hum Mol Genet 6 1997 935 942
-
(1997)
Hum Mol Genet
, vol.6
, pp. 935-942
-
-
Taanman, J.W.1
Bodnar, A.G.2
Cooper, J.M.3
Morris, A.A.4
Clayton, P.T.5
Leonard, J.V.6
-
2
-
-
0036019510
-
Depletion of the other genome-mitochondrial DNA depletion syndromes in humans
-
O. Elpeleg, H. Mandel, and A. Saada Depletion of the other genome-mitochondrial DNA depletion syndromes in humans J Mol Med 80 2002 389 396
-
(2002)
J Mol Med
, vol.80
, pp. 389-396
-
-
Elpeleg, O.1
Mandel, H.2
Saada, A.3
-
3
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
A. Saada, A. Shaag, H. Mandel, Y. Nevo, S. Eriksson, and O. Elpeleg Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy Nat Genet 29 2001 342 344
-
(2001)
Nat Genet
, vol.29
, pp. 342-344
-
-
Saada, A.1
Shaag, A.2
Mandel, H.3
Nevo, Y.4
Eriksson, S.5
Elpeleg, O.6
-
4
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
H. Mandel, R. Szargel, V. Labay, O. Elpeleg, A. Saada, and A. Shalata The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA Nat Genet 29 2001 337 341
-
(2001)
Nat Genet
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
Elpeleg, O.4
Saada, A.5
Shalata, A.6
-
5
-
-
2142705756
-
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
-
R.K. Naviaux, and K.V. Nguyen POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion Ann Neurol 55 2004 706 712
-
(2004)
Ann Neurol
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
6
-
-
0036714964
-
Mitochondrial DNA depletion and dGK gene mutations
-
L. Salviati, S. Sacconi, M. Mancuso, D. Otaegui, P. Camano, and A. Marina Mitochondrial DNA depletion and dGK gene mutations Ann Neurol 52 2002 311 317
-
(2002)
Ann Neurol
, vol.52
, pp. 311-317
-
-
Salviati, L.1
Sacconi, S.2
Mancuso, M.3
Otaegui, D.4
Camano, P.5
Marina, A.6
-
7
-
-
6044243733
-
Hepatocerebral mitochondrial DNA depletion syndrome: Clinical and morphologic features of a nuclear gene mutation
-
S.S. Rabinowitz, D. Gelfond, C.K. Chen, E.S. Gloster, P.F. Whitington, and S. Sacconi Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation J Pediatr Gastroenterol Nutr 38 2004 216 220
-
(2004)
J Pediatr Gastroenterol Nutr
, vol.38
, pp. 216-220
-
-
Rabinowitz, S.S.1
Gelfond, D.2
Chen, C.K.3
Gloster, E.S.4
Whitington, P.F.5
Sacconi, S.6
-
8
-
-
0141889844
-
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes
-
M. Mancuso, M. Filosto, S. Tsujino, C. Lamperti, S. Shanske, and M. Coquet Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes Arch Neurol 60 2003 1445 1447
-
(2003)
Arch Neurol
, vol.60
, pp. 1445-1447
-
-
Mancuso, M.1
Filosto, M.2
Tsujino, S.3
Lamperti, C.4
Shanske, S.5
Coquet, M.6
-
9
-
-
4344579058
-
Hepato-cerebral syndrome: Genetic and pathological studies in an infant with a dGK mutation
-
M. Filosto, M. Mancuso, G. Tomelleri, N. Rizzuto, B. Dalla Bernardina, and S. DiMauro Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation Acta Neuropathol (Berl) 108 2004 168 171
-
(2004)
Acta Neuropathol (Berl)
, vol.108
, pp. 168-171
-
-
Filosto, M.1
Mancuso, M.2
Tomelleri, G.3
Rizzuto, N.4
Dalla Bernardina, B.5
Dimauro, S.6
-
10
-
-
0036329703
-
A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA
-
J.W. Taanman, I. Kateeb, A.C. Muntau, M. Jaksch, N. Cohen, and H. Mandel A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA Ann Neurol 52 2002 237 239
-
(2002)
Ann Neurol
, vol.52
, pp. 237-239
-
-
Taanman, J.W.1
Kateeb, I.2
Muntau, A.C.3
Jaksch, M.4
Cohen, N.5
Mandel, H.6
-
11
-
-
0036222032
-
Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis
-
J. Muller-Hocker, A. Muntau, S. Schafer, M. Jaksch, F. Staudt, and D. Pongratz Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis Hum Pathol 33 2002 247 253
-
(2002)
Hum Pathol
, vol.33
, pp. 247-253
-
-
Muller-Hocker, J.1
Muntau, A.2
Schafer, S.3
Jaksch, M.4
Staudt, F.5
Pongratz, D.6
-
12
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
P. Rustin, D. Chretien, T. Bourgeron, B. Gerard, A. Rotig, and J.M. Saudubray Biochemical and molecular investigations in respiratory chain deficiencies Clin Chim Acta 228 1994 35 51
-
(1994)
Clin Chim Acta
, vol.228
, pp. 35-51
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
Gerard, B.4
Rotig, A.5
Saudubray, J.M.6
-
13
-
-
0026015896
-
MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
C.T. Moraes, S. Shanske, H.J. Tritschler, J.R. Aprille, F. Andreetta, and E. Bonilla mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases Am J Hum Genet 48 1991 492 501
-
(1991)
Am J Hum Genet
, vol.48
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.J.3
Aprille, J.R.4
Andreetta, F.5
Bonilla, E.6
-
14
-
-
0026452612
-
Selective assays for thymidine kinase 1 and 2 and deoxycytidine kinase and their activities in extracts from human cells and tissues
-
E.S. Arner, T. Spasokoukotskaja, and S. Eriksson Selective assays for thymidine kinase 1 and 2 and deoxycytidine kinase and their activities in extracts from human cells and tissues Biochem Biophys Res Commun 188 1992 712 718
-
(1992)
Biochem Biophys Res Commun
, vol.188
, pp. 712-718
-
-
Arner, E.S.1
Spasokoukotskaja, T.2
Eriksson, S.3
-
16
-
-
0024371031
-
Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey
-
J.M. Saudubray, H. Ogier, J.P. Bonnefont, A. Munnich, A. Lombes, and F. Herve Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey J Inherit Metab Dis 12 Suppl 1 1989 25 41
-
(1989)
J Inherit Metab Dis
, vol.121
, pp. 25-41
-
-
Saudubray, J.M.1
Ogier, H.2
Bonnefont, J.P.3
Munnich, A.4
Lombes, A.5
Herve, F.6
-
17
-
-
0027679504
-
Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver
-
P. Bioulac-Sage, F. Parrot-Roulaud, J.P. Mazat, T. Lamireau, M. Coquet, and B. Sandler Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver Hepatology 18 1993 839 846
-
(1993)
Hepatology
, vol.18
, pp. 839-846
-
-
Bioulac-Sage, P.1
Parrot-Roulaud, F.2
Mazat, J.P.3
Lamireau, T.4
Coquet, M.5
Sandler, B.6
-
18
-
-
0034813658
-
The hepatic mitochondrial DNA depletion syndrome: Ultrastructural changes in liver biopsies
-
H. Mandel, C. Hartman, D. Berkowitz, O.N. Elpeleg, I. Manov, and T.C. Iancu The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies Hepatology 34 2001 776 784
-
(2001)
Hepatology
, vol.34
, pp. 776-784
-
-
Mandel, H.1
Hartman, C.2
Berkowitz, D.3
Elpeleg, O.N.4
Manov, I.5
Iancu, T.C.6
-
19
-
-
0030817294
-
Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation
-
V. Cormier-Daire, D. Chretien, P. Rustin, A. Rotig, C. Dubuisson, and E. Jacquemin Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation J Pediatr 130 1997 817 822
-
(1997)
J Pediatr
, vol.130
, pp. 817-822
-
-
Cormier-Daire, V.1
Chretien, D.2
Rustin, P.3
Rotig, A.4
Dubuisson, C.5
Jacquemin, E.6
-
20
-
-
0031971261
-
Liver failure associated with mitochondrial DNA depletion
-
A.A. Morris, J.W. Taanman, J. Blake, J.M. Cooper, B.D. Lake, and M. Malone Liver failure associated with mitochondrial DNA depletion J Hepatol 28 1998 556 563
-
(1998)
J Hepatol
, vol.28
, pp. 556-563
-
-
Morris, A.A.1
Taanman, J.W.2
Blake, J.3
Cooper, J.M.4
Lake, B.D.5
Malone, M.6
-
21
-
-
0037390960
-
Mutation analysis in 16 patients with mtDNA depletion
-
R. Carrozzo, B. Bornstein, S. Lucioli, Y. Campos, P. de la Pena, and N. Petit Mutation analysis in 16 patients with mtDNA depletion Hum Mutat 21 2003 453 454
-
(2003)
Hum Mutat
, vol.21
, pp. 453-454
-
-
Carrozzo, R.1
Bornstein, B.2
Lucioli, S.3
Campos, Y.4
De La Pena, P.5
Petit, N.6
-
22
-
-
0242710705
-
Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome
-
J.M. Saudubray, L. Wang, and S. Eriksson Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome Fed Eur Biochem Soc Lett 554 2003 319 322
-
(2003)
Fed Eur Biochem Soc Lett
, vol.554
, pp. 319-322
-
-
Saudubray, J.M.1
Wang, L.2
Eriksson, S.3
-
23
-
-
0042632468
-
Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts
-
J.W. Taanman, J.R. Muddle, and A.C. Muntau Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts Hum Mol Genet 12 2003 1839 1845
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1839-1845
-
-
Taanman, J.W.1
Muddle, J.R.2
Muntau, A.C.3
|