-
1
-
-
33746872880
-
Mitochondria and cancer: Is there a morphological connection?
-
Alirol E, Martinou JC (2006) Mitochondria and cancer: is there a morphological connection? Oncogene 25:4706-4716
-
(2006)
Oncogene
, vol.25
, pp. 4706-4716
-
-
Alirol, E.1
Martinou, J.C.2
-
2
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
-
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147
-
(1999)
Nat Genet
, vol.23
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.F.3
Lightowlers, R.N.4
Turnbull, D.M.5
Howell, N.6
-
3
-
-
9644275464
-
Clinical and molecular findings in children with complex I deficiency
-
Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati MA, Uziel G, Zeviani M (2004) Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 1659:136-147
-
(2004)
Biochim Biophys Acta
, vol.1659
, pp. 136-147
-
-
Bugiani, M.1
Invernizzi, F.2
Alberio, S.3
Briem, E.4
Lamantea, E.5
Carrara, F.6
Moroni, I.7
Farina, L.8
Spada, M.9
Donati, M.A.10
Uziel, G.11
Zeviani, M.12
-
4
-
-
0032477340
-
Clinical heterogeneity associated with mitochondrial DNA depletion in muscle
-
Campos Y, Martin MA, Garcia-Silva T, del Hoyo P, Rubio JC, Castro-Gago M, Garcia-Penas J, Casas J, Cabello A, Ricoy JR, Arenas J (1998) Clinical heterogeneity associated with mitochondrial DNA depletion in muscle. Neuromuscul Disord 8:568-573
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 568-573
-
-
Campos, Y.1
Martin, M.A.2
Garcia-Silva, T.3
Del Hoyo, P.4
Rubio, J.C.5
Castro-Gago, M.6
Garcia-Penas, J.7
Casas, J.8
Cabello, A.9
Ricoy, J.R.10
Arenas, J.11
-
5
-
-
33947165311
-
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
-
Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LAJ, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de koning D, Morava E, Wevers RA (2007) SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 130:862-874
-
(2007)
Brain
, vol.130
, pp. 862-874
-
-
Carrozzo, R.1
Dionisi-Vici, C.2
Steuerwald, U.3
Lucioli, S.4
Deodato, F.5
Di Giandomenico, S.6
Bertini, E.7
Franke, B.8
Kluijtmans, L.A.J.9
Meschini, M.C.10
Rizzo, C.11
Piemonte, F.12
Rodenburg, R.13
Santer, R.14
Santorelli, F.M.15
Van Rooij, A.16
Vermunt-De Koning, D.17
Morava, E.18
Wevers, R.A.19
-
6
-
-
20344366079
-
Mitochondrial DNA and disease
-
DiMauro S, Davidzon G (2005) Mitochondrial DNA and disease. Ann Med 37:222-232
-
(2005)
Ann Med
, vol.37
, pp. 222-232
-
-
Dimauro, S.1
Davidzon, G.2
-
7
-
-
9744242736
-
Mitochondrial medicine
-
DiMauro S (2004) Mitochondrial medicine. Biochim Biophys Acta 1659:107-114
-
(2004)
Biochim Biophys Acta
, vol.1659
, pp. 107-114
-
-
Dimauro, S.1
-
8
-
-
34250668197
-
COQ2 nephropathy: A newly described inherited mitochondriopathy with primary renal involvement
-
(Submitted)
-
Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Onetti Muda A, Valente ML, Bertini E, Emma F (2007) COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol (Submitted)
-
(2007)
J Am Soc Nephrol
-
-
Diomedi-Camassei, F.1
Di Giandomenico, S.2
Santorelli, F.M.3
Caridi, G.4
Piemonte, F.5
Montini, G.6
Ghiggeri, G.M.7
Murer, L.8
Barisoni, L.9
Pastore, A.10
Onetti Muda, A.11
Valente, M.L.12
Bertini, E.13
Emma, F.14
-
9
-
-
18944390365
-
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
-
Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A (2005) Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 76:1081-1086
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1081-1086
-
-
Elpeleg, O.1
Miller, C.2
Hershkovitz, E.3
Bitner-Glindzicz, M.4
Bondi-Rubinstein, G.5
Rahman, S.6
Pagnamenta, A.7
Eshhar, S.8
Saada, A.9
-
10
-
-
0036677381
-
MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations
-
Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M, Savoiardo M (2002) MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. AJNR Am J Neuroradiol 23:1095-1100
-
(2002)
AJNR Am J Neuroradiol
, vol.23
, pp. 1095-1100
-
-
Farina, L.1
Chiapparini, L.2
Uziel, G.3
Bugiani, M.4
Zeviani, M.5
Savoiardo, M.6
-
11
-
-
20144388894
-
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA
-
Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R, Zeviani M (2005) Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 128:723-731
-
(2005)
Brain
, vol.128
, pp. 723-731
-
-
Ferrari, G.1
Lamantea, E.2
Donati, A.3
Filosto, M.4
Briem, E.5
Carrara, F.6
Parini, R.7
Simonati, A.8
Santer, R.9
Zeviani, M.10
-
12
-
-
0035295967
-
Diagnosis and treatment of childhood mitochondrial diseases
-
Gropman AL (2001) Diagnosis and treatment of childhood mitochondrial diseases. Curr Neurol Neurosci Rep 1:185-194
-
(2001)
Curr Neurol Neurosci Rep
, vol.1
, pp. 185-194
-
-
Gropman, A.L.1
-
13
-
-
0033945199
-
Defects of intergenomic communication: Where do we stand?
-
Hirano M, Vu TH (2000) Defects of intergenomic communication: where do we stand? Brain Pathol 10:451-461
-
(2000)
Brain Pathol
, vol.10
, pp. 451-461
-
-
Hirano, M.1
Vu, T.H.2
-
15
-
-
0037385026
-
The floppy weak infant revisited
-
Johnston HM (2003) The floppy weak infant revisited. Brain Dev 25:155-158
-
(2003)
Brain Dev
, vol.25
, pp. 155-158
-
-
Johnston, H.M.1
-
16
-
-
33748642169
-
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene
-
Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M (2006) Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 79:544-548
-
(2006)
Am J Hum Genet
, vol.79
, pp. 544-548
-
-
Karadimas, C.L.1
Vu, T.H.2
Holve, S.A.3
Chronopoulou, P.4
Quinzii, C.5
Johnsen, S.D.6
Kurth, J.7
Eggers, E.8
Palenzuela, L.9
Tanji, K.10
Bonilla, E.11
De Vivo, D.C.12
Dimauro, S.13
Hirano, M.14
-
17
-
-
0033967568
-
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
-
Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP (2000) Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 15:123-134
-
(2000)
Hum Mutat
, vol.15
, pp. 123-134
-
-
Loeffen, J.L.1
Smeitink, J.A.2
Trijbels, J.M.3
Janssen, A.J.4
Triepels, R.H.5
Sengers, R.C.6
Van Den Heuvel, L.P.7
-
18
-
-
33845232634
-
10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
-
10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 79:1125-1129
-
(2006)
Am J Hum Genet
, vol.79
, pp. 1125-1129
-
-
Lopez, L.C.1
Schuelke, M.2
Quinzii, C.M.3
Kanki, T.4
Rodenburg, R.J.5
Naini, A.6
Dimauro, S.7
Hirano, M.8
-
19
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N (2001) The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 29:337-341
-
(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
Anbinder, Y.7
Berkowitz, D.8
Hartman, C.9
Barak, M.10
Eriksson, S.11
Cohen, N.12
-
20
-
-
10744225018
-
Respiratory complex I in brain development and genetic disease
-
Papa S, Petruzzella V, Scacco S, Vergari R, Panelli D, Tamborra R, Corsi P, Picciariello M, Lambo R, Bertini E Santorelli FM (2004) Respiratory complex I in brain development and genetic disease. Neurochem Res 29:547-560
-
(2004)
Neurochem Res
, vol.29
, pp. 547-560
-
-
Papa, S.1
Petruzzella, V.2
Scacco, S.3
Vergari, R.4
Panelli, D.5
Tamborra, R.6
Corsi, P.7
Picciariello, M.8
Lambo, R.9
Bertini Santorelli, E.F.M.10
-
21
-
-
31544480133
-
A Mutation in Para-Hydroxybenzoate-Polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
-
Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M (2006a) A Mutation in Para-Hydroxybenzoate-Polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 78:345-349
-
(2006)
Am J Hum Genet
, vol.78
, pp. 345-349
-
-
Quinzii, C.1
Naini, A.2
Salviati, L.3
Trevisson, E.4
Navas, P.5
Dimauro, S.6
Hirano, M.7
-
23
-
-
13244277454
-
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
-
Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M (2005) Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 64:539-541
-
(2005)
Neurology
, vol.64
, pp. 539-541
-
-
Quinzii, C.M.1
Kattah, A.G.2
Naini, A.3
Akman, H.O.4
Mootha, V.K.5
Dimauro, S.6
Hirano, M.7
-
24
-
-
0029985716
-
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
-
Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39:343-351
-
(1996)
Ann Neurol
, vol.39
, pp. 343-351
-
-
Rahman, S.1
Blok, R.B.2
Dahl, H.H.3
Danks, D.M.4
Kirby, D.M.5
Chow, C.W.6
Christodoulou, J.7
Thorburn, D.R.8
-
25
-
-
33746947313
-
Lactic acidemia and mitochondrial disease
-
1-2
-
Robinson BH (2006) Lactic acidemia and mitochondrial disease. Mol Genet Metab 89(1-2):3-13
-
(2006)
Mol Genet Metab
, vol.89
, pp. 3-13
-
-
Robinson, B.H.1
-
26
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O (2001) Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 29:342-344
-
(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
-
27
-
-
33646376465
-
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
-
Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rotig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M (2006) MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 38:570-575
-
(2006)
Nat Genet
, vol.38
, pp. 570-575
-
-
Spinazzola, A.1
Viscomi, C.2
Fernandez-Vizarra, E.3
Carrara, F.4
D'Adamo, P.5
Calvo, S.6
Marsano, R.M.7
Donnini, C.8
Weiher, H.9
Strisciuglio, P.10
Parini, R.11
Sarzi, E.12
Chan, A.13
Dimauro, S.14
Rotig, A.15
Gasparini, P.16
Ferrero, I.17
Mootha, V.K.18
Tiranti, V.19
Zeviani, M.20
more..
-
28
-
-
0035033273
-
Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: Report of two cases and review of the literature
-
Trinh BC, Melhem ER, Barker PB (2001) Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature. AJNR Am J Neuroradiol 22:831-833
-
(2001)
AJNR Am J Neuroradiol
, vol.22
, pp. 831-833
-
-
Trinh, B.C.1
Melhem, E.R.2
Barker, P.B.3
-
29
-
-
33846006253
-
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu
-
Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M (2007) Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet 80:44-58
-
(2007)
Am J Hum Genet
, vol.80
, pp. 44-58
-
-
Valente, L.1
Tiranti, V.2
Marsano, R.M.3
Malfatti, E.4
Fernandez-Vizarra, E.5
Donnini, C.6
Mereghetti, P.7
De Gioia, L.8
Burlina, A.9
Castellan, C.10
Comi, G.P.11
Savasta, S.12
Ferrero, I.13
Zeviani, M.14
-
30
-
-
0034775551
-
Blue native polyacrylamide gel electrophoresis: A powerful tool in diagnosis of oxidative phosphorylation defects
-
Van Coster R, Smet J, George E, De Meirleir L, Seneca S, Van Hove J, Sebire G, Verhelst H, De Bleecker J, Van Vlem B, Verloo P, Leroy J (2001) Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects. Pediatr Res 50:658-665
-
(2001)
Pediatr Res
, vol.50
, pp. 658-665
-
-
Van Coster, R.1
Smet, J.2
George, E.3
De Meirleir, L.4
Seneca, S.5
Van Hove, J.6
Sebire, G.7
Verhelst, H.8
De Bleecker, J.9
Van Vlem, B.10
Verloo, P.11
Leroy, J.12
-
32
-
-
0031747955
-
Clinical manifestations of mitochondrial DNA depletion
-
Vu TH, Sciacco M, Tanji K, Nichter C, Bonilla E, Chatkupt S, Maertens P, Shanske S, Mendell J, Koenigsberger MR, Sharer L, Schon EA, DiMauro S, DeVivo DC (1998) Clinical manifestations of mitochondrial DNA depletion. Neurology 50:1783-1790
-
(1998)
Neurology
, vol.50
, pp. 1783-1790
-
-
Vu, T.H.1
Sciacco, M.2
Tanji, K.3
Nichter, C.4
Bonilla, E.5
Chatkupt, S.6
Maertens, P.7
Shanske, S.8
Mendell, J.9
Koenigsberger, M.R.10
Sharer, L.11
Schon, E.A.12
Dimauro, S.13
Devivo, D.C.14
|