-
1
-
-
0026015896
-
Mitochondrial DNA depletion with variable tissue specificity: A novel genetic abnormality in mitochondrial diseases
-
Moraes CT, Shanske S, Tritschler H-J, et al. Mitochondrial DNA depletion with variable tissue specificity: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991;48:492-501.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.-J.3
-
2
-
-
0342502189
-
Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation
-
Barthelemy C, Ogier de Baulny H, Diaz J, et al. Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation. Ann Neurol 2001;49:607-17.
-
(2001)
Ann Neurol
, vol.49
, pp. 607-617
-
-
Barthelemy, C.1
Ogier de Baulny, H.2
Diaz, J.3
-
3
-
-
0035868295
-
Orthotopic liver transplantation for mitochondrial respiratory chain disorders: A study of 5 children
-
Dubern B, Broue P, Dubuisson C, et al. Orthotopic liver transplantation for mitochondrial respiratory chain disorders: a study of 5 children. Transplantation 2001;71:633-7.
-
(2001)
Transplantation
, vol.71
, pp. 633-637
-
-
Dubern, B.1
Broue, P.2
Dubuisson, C.3
-
4
-
-
33646376465
-
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
-
Spinazzola A, Viscomi C, Fernandez-Vizarra E, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38:570-5.
-
(2006)
Nat Genet
, vol.38
, pp. 570-575
-
-
Spinazzola, A.1
Viscomi, C.2
Fernandez-Vizarra, E.3
-
5
-
-
0037390960
-
Mutation analysis in 16 patients with mtDNA depletion
-
Carrozzo R, Bornstein B, Lucioli S, et al. Mutation analysis in 16 patients with mtDNA depletion. Hum Mutat 2003;21:453-4.
-
(2003)
Hum Mutat
, vol.21
, pp. 453-454
-
-
Carrozzo, R.1
Bornstein, B.2
Lucioli, S.3
-
6
-
-
0034813658
-
The hepatic mitochondrial DNA depletion syndrome: Ultrastructural changes in liver biopsies
-
Mandel H, Hartman C, Berkowitzet D, et al. The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies. Hepatology 2001;34:776-84.
-
(2001)
Hepatology
, vol.34
, pp. 776-784
-
-
Mandel, H.1
Hartman, C.2
Berkowitzet, D.3
-
7
-
-
0032923497
-
Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis
-
Ducluzeau PH, Lachaux A, Bouvier R, et al. Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis. J Hepatol 1999;30:149-55.
-
(1999)
J Hepatol
, vol.30
, pp. 149-155
-
-
Ducluzeau, P.H.1
Lachaux, A.2
Bouvier, R.3
-
8
-
-
0026704872
-
Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion: Differential involvement of skeletal muscle and cultured fibroblasts
-
Telerman-Toppet N, Biarent D, Bouton JM, et al. Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion: differential involvement of skeletal muscle and cultured fibroblasts. J Inherit Metab Dis 1992;5:323-6.
-
(1992)
J Inherit Metab Dis
, vol.5
, pp. 323-326
-
-
Telerman-Toppet, N.1
Biarent, D.2
Bouton, J.M.3
-
9
-
-
0026554441
-
Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement
-
Figarella-Branger D, Pellissier JF, Scheiner C, et al. Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. J Neurol Sci 1992;108:105-13.
-
(1992)
J Neurol Sci
, vol.108
, pp. 105-113
-
-
Figarella-Branger, D.1
Pellissier, J.F.2
Scheiner, C.3
-
10
-
-
0018819202
-
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
-
Tritschler HJ, Andreetta F, Moraes CT, et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 1980;30:795-804.
-
(1980)
Neurology
, vol.30
, pp. 795-804
-
-
Tritschler, H.J.1
Andreetta, F.2
Moraes, C.T.3
-
11
-
-
0028930787
-
Variation in mitochondrial DNA levels in muscle from normal controls: Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?
-
Poulton J, Sewry C, Potter CG, et al. Variation in mitochondrial DNA levels in muscle from normal controls: is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome? J Inherit Metab Dis 1995;18:4-20.
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 4-20
-
-
Poulton, J.1
Sewry, C.2
Potter, C.G.3
-
12
-
-
0028029271
-
Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion
-
Poulton J, Morten K, Freeman-Emmerson C, et al. Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. Hum Mol Genet 1994;3:1763-9.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1763-1769
-
-
Poulton, J.1
Morten, K.2
Freeman-Emmerson, C.3
-
13
-
-
0029086201
-
Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study
-
Mariotti C, Uziel G, Carrara F, et al. Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study. J Neurol 1995;242:547-56.
-
(1995)
J Neurol
, vol.242
, pp. 547-556
-
-
Mariotti, C.1
Uziel, G.2
Carrara, F.3
-
14
-
-
0031747955
-
Clinical manifestations of mitochondrial DNA depletion
-
Vu TH, Sciacco M, Tanji K, et al. Clinical manifestations of mitochondrial DNA depletion. Neurology 1998;50:1783-90.
-
(1998)
Neurology
, vol.50
, pp. 1783-1790
-
-
Vu, T.H.1
Sciacco, M.2
Tanji, K.3
-
15
-
-
0032477340
-
Clinical heterogeneity associated with mitochondrial DNA depletion in muscle
-
Campos Y, Martin MA, Garcia-Silva T, et al. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle. Neuromusc Disord 1998;8:568-73.
-
(1998)
Neuromusc Disord
, vol.8
, pp. 568-573
-
-
Campos, Y.1
Martin, M.A.2
Garcia-Silva, T.3
-
16
-
-
0031899233
-
Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplant in childhood
-
Thomson M, McKiernan P, Buckels J, et al. Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplant in childhood. J Pediatr Gastroenterol Nutr 1998;26:478-81.
-
(1998)
J Pediatr Gastroenterol Nutr
, vol.26
, pp. 478-481
-
-
Thomson, M.1
McKiernan, P.2
Buckels, J.3
-
17
-
-
0031971261
-
Liver failure associated with mitochondrial DNA depletion
-
Morris A, Taanman JW, Blake J, et al. Liver failure associated with mitochondrial DNA depletion. J Hepatol 1998;28:556-63.
-
(1998)
J Hepatol
, vol.28
, pp. 556-563
-
-
Morris, A.1
Taanman, J.W.2
Blake, J.3
|