-
2
-
-
0031711019
-
Sistema genético mitocondrial humano
-
Enríquez JA, Martínez-Azorín F, Garesse R, López-Pérez MJ, Pérez-Martos A, Bornstein B, et al. Sistema genético mitocondrial humano. Rev Neurol 1998; 26 (Supl 1): S21-6.
-
(1998)
Rev Neurol
, vol.26
, Issue.1 SUPPL.
-
-
Enríquez, J.A.1
Martínez-Azorín, F.2
Garesse, R.3
López-Pérez, M.J.4
Pérez-Martos, A.5
Bornstein, B.6
-
3
-
-
0027311861
-
The expanding clinical spectrum of mitochondrial diseases
-
De Vivo DC. The expanding clinical spectrum of mitochondrial diseases. Brain Dev 1993; 15: 1-22.
-
(1993)
Brain Dev
, vol.15
, pp. 1-22
-
-
De Vivo, D.C.1
-
4
-
-
0027525492
-
Mitochondrial encephalomyopathies
-
DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol 1993; 50: 1197-208.
-
(1993)
Arch Neurol
, vol.50
, pp. 1197-1208
-
-
DiMauro, S.1
Moraes, C.T.2
-
5
-
-
0029743399
-
Mitochondrial encephalomyopathies: What next?
-
DiMauro S. Mitochondrial encephalomyopathies: What next? J Inherit Metab Dis 1996; 19: 489-503.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 489-503
-
-
DiMauro, S.1
-
6
-
-
0012572777
-
The mitochondrial disorders
-
Berg BO, ed. New York: McGraw-Hill
-
DiMauro S, Hirano M, Bonilla E, De Vivo DC. The mitochondrial disorders. In Berg BO, ed. Principles of child neurology. New York: McGraw-Hill; 1996. p. 1201-32.
-
(1996)
Principles of Child Neurology
, pp. 1201-1232
-
-
DiMauro, S.1
Hirano, M.2
Bonilla, E.3
De Vivo, D.C.4
-
7
-
-
24644438268
-
Genética molecular de las citopatías mitocondriales
-
Campos Y, Arenas J. Genética molecular de las citopatías mitocondriales. An Esp Pediatr 1996; 83 (Supl): 293-6.
-
(1996)
An Esp Pediatr
, vol.83
, Issue.SUPPL.
, pp. 293-296
-
-
Campos, Y.1
Arenas, J.2
-
8
-
-
0026624980
-
Diseases of the mitochondrial DNA
-
Wallace CD. Diseases of the mitochondrial DNA. Ann Rev Biochem 1992; 61: 1175-212.
-
(1992)
Ann Rev Biochem
, vol.61
, pp. 1175-1212
-
-
Wallace, C.D.1
-
9
-
-
0003783656
-
Maternally inherited diseases
-
DiMauro S, Wallace DC, eds. New York: Raven Press
-
Wallace DC, Lott MT. Maternally inherited diseases. In DiMauro S, Wallace DC, eds. Mitochondrial DNA in human pathology. New York: Raven Press; 1993. p. 63-83.
-
(1993)
Mitochondrial DNA in Human Pathology
, pp. 63-83
-
-
Wallace, D.C.1
Lott, M.T.2
-
10
-
-
0031679825
-
Genética molecular de las alteraciones de la cadena respiratoria mitocondrial
-
Martín MA, Campos Y, de Bustos F, del Hoyo P, Rubio JC, Arenas J. Genética molecular de las alteraciones de la cadena respiratoria mitocondrial. Rev Neurol 1998; 26 (Supl 1): S27-35.
-
(1998)
Rev Neurol
, vol.26
, Issue.1 SUPPL.
-
-
Martín, M.A.1
Campos, Y.2
De Bustos, F.3
Del Hoyo, P.4
Rubio, J.C.5
Arenas, J.6
-
12
-
-
0000446489
-
Quantitative defects of mitochondrial DNA
-
DiMauro S, Wallace DC, eds. New York: Raven Press
-
Moraes CT, Ricci E, Arnaudo E, Bonilla E, DiMauro S, Schon EA. Quantitative defects of mitochondrial DNA. In DiMauro S, Wallace DC, eds. Mitochondrial DNA in human pathology. New York: Raven Press; 1993. p. 97-108.
-
(1993)
Mitochondrial DNA in Human Pathology
, pp. 97-108
-
-
Moraes, C.T.1
Ricci, E.2
Arnaudo, E.3
Bonilla, E.4
DiMauro, S.5
Schon, E.A.6
-
13
-
-
0026566850
-
Heteroplasmic mtDNA mutation (T to G) at 8993 can cause Leigh's disease when the percentage of abnormal mtDNA is high
-
Tatuch Y, Christodolpu J, Feigenbaum A, Clark J, Wherret J, Smith C, et al. Heteroplasmic mtDNA mutation (T to G) at 8993 can cause Leigh's disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992; 50: 852-8.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 852-858
-
-
Tatuch, Y.1
Christodolpu, J.2
Feigenbaum, A.3
Clark, J.4
Wherret, J.5
Smith, C.6
-
14
-
-
0025968682
-
Pearson's syndrome and mitochondrial encephalopathy in a patient with a deletion of mtDNA
-
McShane MA, Hammans SR, Sweeney M, Brockington M, Harding A, Morgan-Hughes JA. Pearson's syndrome and mitochondrial encephalopathy in a patient with a deletion of mtDNA. Am J Hum Genet 1991; 48: 39-42.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 39-42
-
-
McShane, M.A.1
Hammans, S.R.2
Sweeney, M.3
Brockington, M.4
Harding, A.5
Morgan-Hughes, J.A.6
-
15
-
-
85013551650
-
Mitochondrial myopathies: Biochemical aspects
-
Shanske S, DiMauro S. Mitochondrial myopathies: biochemical aspects. Curr Top Bioenerg 1994; 17: 21-58.
-
(1994)
Curr Top Bioenerg
, vol.17
, pp. 21-58
-
-
Shanske, S.1
DiMauro, S.2
-
16
-
-
0031663148
-
Déficits de los complejos enzimáticos de la cadena respiratoria mitocondrial
-
Rubio JC, Martín MA, del Hoyo P, de Bustos F, Campos Y, Arenas J. Déficits de los complejos enzimáticos de la cadena respiratoria mitocondrial. Rev Neurol 1998; 26 (Supl 1): S15-20.
-
(1998)
Rev Neurol
, vol.26
, Issue.1 SUPPL.
-
-
Rubio, J.C.1
Martín, M.A.2
Del Hoyo, P.3
De Bustos, F.4
Campos, Y.5
Arenas, J.6
-
17
-
-
0029059910
-
The proton pumping respiratory complex I of bacteria and mitochondria and its homologue in chloroplasts
-
Friedrich T, Steinmüller A, Weiss H. The proton pumping respiratory complex I of bacteria and mitochondria and its homologue in chloroplasts. FEBS Lett 1995; 367: 107-11.
-
(1995)
FEBS Lett
, vol.367
, pp. 107-111
-
-
Friedrich, T.1
Steinmüller, A.2
Weiss, H.3
-
18
-
-
0029069147
-
Determination of the structures of respiratory chain enzyme complexes from mammalian mitochondria
-
Walker JE. Determination of the structures of respiratory chain enzyme complexes from mammalian mitochondria. Biochim Biophys Acta 1995; 1271: 221-7.
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 221-227
-
-
Walker, J.E.1
-
19
-
-
0001005014
-
Structure and function of succinate dehydrogenase and fumarate reductase
-
Muller F, ed. Boca Raton: CRC Press
-
Ackrell BAC, Johnson MK, Ginsalus RP, Cecchini G. Structure and function of succinate dehydrogenase and fumarate reductase. In Muller F, ed. Biochemistry of flavoenzymes. Boca Raton: CRC Press; 1992. p. 229-97.
-
(1992)
Biochemistry of Flavoenzymes
, pp. 229-297
-
-
Ackrell, B.A.C.1
Johnson, M.K.2
Ginsalus, R.P.3
Cecchini, G.4
-
20
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, de Brijin MHL, Coulson AR, Drouin J, et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457-65.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
De Brijin, M.H.L.4
Coulson, A.R.5
Drouin, J.6
-
21
-
-
0025864201
-
Mitochondria: Structure and function
-
Paris
-
Sheratt HSA. Mitochondria: structure and function. Rev Neurol (Paris) 1991; 147: 417-30.
-
(1991)
Rev Neurol
, vol.147
, pp. 417-430
-
-
Sheratt, H.S.A.1
-
22
-
-
0002629236
-
Mitochondrial encephalomyopathies
-
Rosenberg R, Prusiner S, DiMauro S, Barchi RL, eds. Boston: Butterworth-Heineman
-
DiMauro S, Bonilla E. Mitochondrial encephalomyopathies. In Rosenberg R, Prusiner S, DiMauro S, Barchi RL, eds. The molecular and genetic basis of neurological diseases. 2 ed. Boston: Butterworth-Heineman; 1997. p. 201-35.
-
(1997)
The Molecular and Genetic Basis of Neurological Diseases. 2 Ed.
, pp. 201-235
-
-
DiMauro, S.1
Bonilla, E.2
-
23
-
-
4244109189
-
Citopatías mitocondriales
-
Fejerman N, Fernández Álvarez E, eds. Buenos Aires: Médica Panamericana;
-
Chamoles N. Citopatías mitocondriales. En Fejerman N, Fernández Álvarez E, eds. Neurología pediátrica. 2 ed. Buenos Aires: Médica Panamericana; 1997. p. 368-82.
-
(1997)
Neurología Pediátrica. 2 Ed.
, pp. 368-382
-
-
Chamoles, N.1
-
24
-
-
0033620148
-
Encefalomiopatías mitocondriales; ¿Hacia dónde vamos?
-
DiMauro S, Andreu AL, Bonilla E. Encefalomiopatías mitocondriales; ¿Hacia dónde vamos? Rev Neurol 1999; 28: 164-8.
-
(1999)
Rev Neurol
, vol.28
, pp. 164-168
-
-
DiMauro, S.1
Andreu, A.L.2
Bonilla, E.3
-
25
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes C, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda A, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989; 320: 1293-9.
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.1
DiMauro, S.2
Zeviani, M.3
Lombes, A.4
Shanske, S.5
Miranda, A.6
-
27
-
-
0025727366
-
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndrome
-
Zupanc ML, Moraes CT, Shanske S, Langman CB, Ciafaloni E, DiMauro S. Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndrome. Ann Neurol 1991; 29: 680-3.
-
(1991)
Ann Neurol
, vol.29
, pp. 680-683
-
-
Zupanc, M.L.1
Moraes, C.T.2
Shanske, S.3
Langman, C.B.4
Ciafaloni, E.5
DiMauro, S.6
-
28
-
-
0025314193
-
Renal tubular involvement mimicking Bartter's syndrome in a patient with Kearns-Sayre's syndrome
-
Goto Y, Itami N, Kajii N, Tochimaru H, Endo M, Horai S. Renal tubular involvement mimicking Bartter's syndrome in a patient with Kearns-Sayre's syndrome. J Pediatr 1990; 116: 904-10.
-
(1990)
J Pediatr
, vol.116
, pp. 904-910
-
-
Goto, Y.1
Itami, N.2
Kajii, N.3
Tochimaru, H.4
Endo, M.5
Horai, S.6
-
29
-
-
0025009303
-
Kearns-Sayre syndrome presenting as a renal tubular acidosis
-
Eviatar L, Shanske S, Gauthier B, Abrams C, Maytal J, Slavin M, et al. Kearns-Sayre syndrome presenting as a renal tubular acidosis. Neurology 1990; 40: 1761-3.
-
(1990)
Neurology
, vol.40
, pp. 1761-1763
-
-
Eviatar, L.1
Shanske, S.2
Gauthier, B.3
Abrams, C.4
Maytal, J.5
Slavin, M.6
-
30
-
-
0032409149
-
Aspectos actuales de las encefalomiopatías mitocondriales durante la niñez y adolescencia
-
Castro-Gago M, Novo Rodríguez MaI, Eirís Puñal J. Aspectos actuales de las encefalomiopatías mitocondriales durante la niñez y adolescencia. Rev Esp Pediatr 1998; 54: 465-84.
-
(1998)
Rev Esp Pediatr
, vol.54
, pp. 465-484
-
-
Castro-Gago, M.1
Novo Rodríguez, Ma.I.2
Eirís Puñal, J.3
-
31
-
-
0018712317
-
A new syndrome of refractory sideroblastic anemia with vacuolization of marrows precursors and exocrine pancreatic dysfunction
-
Pearson HA, Lobel JS, Kocoshis SA, Kocoshis SA, Naiman JW, Windmuller J, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrows precursors and exocrine pancreatic dysfunction. J Pediatr 1979; 95: 976-84.
-
(1979)
J Pediatr
, vol.95
, pp. 976-984
-
-
Pearson, H.A.1
Lobel, J.S.2
Kocoshis, S.A.3
Kocoshis, S.A.4
Naiman, J.W.5
Windmuller, J.6
-
32
-
-
0025133424
-
Pearson's marrow-pancreas syndrome: A multisystem mitochondrial disorder in infancy
-
Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, et al. Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy. J Clin Invest 1990; 86: 1601-8.
-
(1990)
J Clin Invest
, vol.86
, pp. 1601-1608
-
-
Rötig, A.1
Cormier, V.2
Blanche, S.3
Bonnefont, J.P.4
Ledeist, F.5
Romero, N.6
-
33
-
-
0025071944
-
Juvenile Pearson's syndrome
-
Blaw ME, Mize CE. Juvenile Pearson's syndrome. J Child Neurol 1990; 5: 187-90.
-
(1990)
J Child Neurol
, vol.5
, pp. 187-190
-
-
Blaw, M.E.1
Mize, C.E.2
-
34
-
-
0029854881
-
Leigh-type neuropathology in Pearson's syndrome associated with impaired ATP production and novel mtDNA deletion
-
Santorelli FM, Barmada MA, Pons R, Zhang L, DiMauro S. Leigh-type neuropathology in Pearson's syndrome associated with impaired ATP production and novel mtDNA deletion. Neurology 1996; 47: 1320-3.
-
(1996)
Neurology
, vol.47
, pp. 1320-1323
-
-
Santorelli, F.M.1
Barmada, M.A.2
Pons, R.3
Zhang, L.4
DiMauro, S.5
-
35
-
-
0029144941
-
Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, stroke-like episodes (MELAS) and Fanconi's syndrome
-
Campos Y, García-Silva T, Barrionuevo CR, Cabello A, Muley R, Arenas J. Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, stroke-like episodes (MELAS) and Fanconi's syndrome. Pediatr Neurol 1995; 13: 69-72.
-
(1995)
Pediatr Neurol
, vol.13
, pp. 69-72
-
-
Campos, Y.1
García-Silva, T.2
Barrionuevo, C.R.3
Cabello, A.4
Muley, R.5
Arenas, J.6
-
36
-
-
0028908586
-
Deletion of mitochondrial DNA in patients with chronic tubulointerstitial nephritis
-
Rötig A, Goutiéres F, Niaudet P, Rustin P, Chretien D, Guest G, et al. Deletion of mitochondrial DNA in patients with chronic tubulointerstitial nephritis. J Pediatr 1995; 126: 597-601.
-
(1995)
J Pediatr
, vol.126
, pp. 597-601
-
-
Rötig, A.1
Goutiéres, F.2
Niaudet, P.3
Rustin, P.4
Chretien, D.5
Guest, G.6
-
37
-
-
0028156783
-
Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy
-
Cormier-Daire V, Bonnefont JP, Rustin P, Maurage C, Ogier H, Schmitz J, et al. Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 1994; 124: 63-70.
-
(1994)
J Pediatr
, vol.124
, pp. 63-70
-
-
Cormier-Daire, V.1
Bonnefont, J.P.2
Rustin, P.3
Maurage, C.4
Ogier, H.5
Schmitz, J.6
-
38
-
-
0031716260
-
Encefalomiopatías mitocondriales de comienzo en la infancia y adolescencia
-
Castro-Gago M, Novo-Rodríguez MaI, Eirís-Puñal J. Encefalomiopatías mitocondriales de comienzo en la infancia y adolescencia. Rev Neurol 1998; 26 (Supl 1): S61-71.
-
(1998)
Rev Neurol
, vol.26
, Issue.1 SUPPL.
-
-
Castro-Gago, M.1
Novo-Rodríguez, Ma.I.2
Eirís-Puñal, J.3
-
40
-
-
0027190874
-
Clinical features associated with the A>G transition at nucleotide 8344 of mtDNA ('MERRF mutation')
-
Silvestri G, Ciafaloni S, Santorelli F, Shanske S, Servidei S, Graf WD, et al. Clinical features associated with the A>G transition at nucleotide 8344 of mtDNA ('MERRF mutation'). Neurology 1993; 43: 1200-6.
-
(1993)
Neurology
, vol.43
, pp. 1200-1206
-
-
Silvestri, G.1
Ciafaloni, S.2
Santorelli, F.3
Shanske, S.4
Servidei, S.5
Graf, W.D.6
-
44
-
-
0029977170
-
Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh's disease
-
Howell N, Kubacka I, Smith R, Frerman F, Parks JK, Parker WD Jr. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh's disease. Neurology 1996; 46: 219-22.
-
(1996)
Neurology
, vol.46
, pp. 219-222
-
-
Howell, N.1
Kubacka, I.2
Smith, R.3
Frerman, F.4
Parks, J.K.5
Parker Jr., W.D.6
-
45
-
-
24644522149
-
Mutación puntual A G 8344 del ADN mitocondrial en una familia con epilepsia mioclónica y fibres rojo-rasgadas (MERRF)
-
Campos Y, Huertas R, Esteban J, Arenas J. Mutación puntual A G 8344 del ADN mitocondrial en una familia con epilepsia mioclónica y fibres rojo-rasgadas (MERRF). Rev Diagn Biol 1993; 42: 180-3.
-
(1993)
Rev Diagn Biol
, vol.42
, pp. 180-183
-
-
Campos, Y.1
Huertas, R.2
Esteban, J.3
Arenas, J.4
-
46
-
-
0030152951
-
Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap
-
Serra G, Piccinnu R, Tondi M, Muntoni F, Zeviani M, Mastropaolo C. Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap. Brain Dev 1996; 18: 185-91.
-
(1996)
Brain Dev
, vol.18
, pp. 185-191
-
-
Serra, G.1
Piccinnu, R.2
Tondi, M.3
Muntoni, F.4
Zeviani, M.5
Mastropaolo, C.6
-
49
-
-
0026681490
-
MELAS: Clinical features, biochemistry, and molecular genetics
-
Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992; 31: 191-8.
-
(1992)
Ann Neurol
, vol.31
, pp. 191-198
-
-
Ciafaloni, E.1
Ricci, E.2
Shanske, S.3
Moraes, C.T.4
Silvestri, G.5
Hirano, M.6
-
51
-
-
0030152850
-
An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA
-
Terauchi A, Tamagawa K, Morimatsu Y, Kobayaski M, Sano T, Yoda S. An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA. Brain Dev 1996; 18: 224-9.
-
(1996)
Brain Dev
, vol.18
, pp. 224-229
-
-
Terauchi, A.1
Tamagawa, K.2
Morimatsu, Y.3
Kobayaski, M.4
Sano, T.5
Yoda, S.6
-
52
-
-
0025666322
-
(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651-3.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
53
-
-
0025534162
-
(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)
-
(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990; 173: 816-22.
-
(1990)
Biochem Biophys Res Commun
, vol.173
, pp. 816-822
-
-
Kobayashi, Y.1
Momoi, M.Y.2
Tominage, K.3
Momoi, T.4
Nihei, K.5
Yanagisana, M.6
-
54
-
-
0026718556
-
Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS): Genetic, biochemical, and morphological correlation in skeletal muscle
-
Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS): genetic, biochemical, and morphological correlation in skeletal muscle. Am J Hum Genet 1992; 50: 934-49.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 934-949
-
-
Moraes, C.T.1
Ricci, E.2
Bonilla, E.3
DiMauro, S.4
Schon, E.A.5
-
55
-
-
0026004614
-
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
-
Goto Y, Nonaka I, Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1991; 1097: 238-40.
-
(1991)
Biochim Biophys Acta
, vol.1097
, pp. 238-240
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
56
-
-
0027715020
-
A new point mutation associated with mitochondrial encephalomyopathy
-
Morten KJ, Cooper JM, Brown GK, Lake BD, Pike D, Poulton J. A new point mutation associated with mitochondrial encephalomyopathy. Hum Mol Genet 1993; 2: 1981-7.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1981-1987
-
-
Morten, K.J.1
Cooper, J.M.2
Brown, G.K.3
Lake, B.D.4
Pike, D.5
Poulton, J.6
-
57
-
-
0029046428
-
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene
-
Manfredi G, Schon EA, Moraes CT, Bonilla E, Berry GT, Sladky JT, et al. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromuscul Disord 1995; 5: 391-8.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 391-398
-
-
Manfredi, G.1
Schon, E.A.2
Moraes, C.T.3
Bonilla, E.4
Berry, G.T.5
Sladky, J.T.6
-
58
-
-
0027533867
-
Mitochondrial DNA mutations at nucleotide position 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: A comparative study
-
Sakuta R, Goto Y, Horai S, Nonaka I. Mitochondrial DNA mutations at nucleotide position 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a comparative study. J Neurol Sci 1993; 115: 158-60.
-
(1993)
J Neurol Sci
, vol.115
, pp. 158-160
-
-
Sakuta, R.1
Goto, Y.2
Horai, S.3
Nonaka, I.4
-
59
-
-
0027335882
-
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
-
Moraes CT, Ciacci F, Silvestri G, Shanske S, Sciacco M, Hirano M, et al. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord 1993; 3: 43-50.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 43-50
-
-
Moraes, C.T.1
Ciacci, F.2
Silvestri, G.3
Shanske, S.4
Sciacco, M.5
Hirano, M.6
-
60
-
-
0028071171
-
Variable clinical expression associated with mutation 3243nt of mitochondrial DNA
-
Campos Y, Bautista J, Gutiérrez-Rivas E, Llabrés J, Lorenzo G, Arenas J. Variable clinical expression associated with mutation 3243nt of mitochondrial DNA. J Inherit Metab Dis 1994; 17: 634-5.
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 634-635
-
-
Campos, Y.1
Bautista, J.2
Gutiérrez-Rivas, E.3
Llabrés, J.4
Lorenzo, G.5
Arenas, J.6
-
64
-
-
0029953124
-
A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation
-
Verma A, Moraes CT, Shebert R, Bradley WG. A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation. Neurology 1996; 46: 1334-6.
-
(1996)
Neurology
, vol.46
, pp. 1334-1336
-
-
Verma, A.1
Moraes, C.T.2
Shebert, R.3
Bradley, W.G.4
-
65
-
-
0033498227
-
Infantile encephalopathy associated with the MELAS A3243G mutation
-
Sue CM, Bruno C, Andreu AL, Cargan A, Mendell JR, Tsao C-Y, et al. Infantile encephalopathy associated with the MELAS A3243G mutation. J Pediatr 1999; 134: 696-700.
-
(1999)
J Pediatr
, vol.134
, pp. 696-700
-
-
Sue, C.M.1
Bruno, C.2
Andreu, A.L.3
Cargan, A.4
Mendell, J.R.5
Tsao, C.-Y.6
-
66
-
-
0030693171
-
Mitochondrial encephalomyopathy with 15915 mutation: Clinical report
-
Sehi A, Nishino I, Goto Y, Maegaki Y, Koeda T. Mitochondrial encephalomyopathy with 15915 mutation: clinical report. Pediatr Neurol 1997; 17: 161-4.
-
(1997)
Pediatr Neurol
, vol.17
, pp. 161-164
-
-
Sehi, A.1
Nishino, I.2
Goto, Y.3
Maegaki, Y.4
Koeda, T.5
-
69
-
-
0033503930
-
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy
-
Bruno C, Kirby MK, Koga Y, Garavaglia B, Duran G, Santorelli FM, et al. The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy. J Pediatr 1999; 135: 197-202.
-
(1999)
J Pediatr
, vol.135
, pp. 197-202
-
-
Bruno, C.1
Kirby, M.K.2
Koga, Y.3
Garavaglia, B.4
Duran, G.5
Santorelli, F.M.6
-
70
-
-
0027180961
-
Leber's hereditary optic neuropathy
-
Newman NJ. Leber's hereditary optic neuropathy. Arch Neurol 1993; 50: 540-8.
-
(1993)
Arch Neurol
, vol.50
, pp. 540-548
-
-
Newman, N.J.1
-
71
-
-
0028342847
-
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
-
Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 1994; 91: 6206-10.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 6206-6210
-
-
Jun, A.S.1
Brown, M.D.2
Wallace, D.C.3
-
72
-
-
0025936841
-
Leber's hereditary optic neuropathy and complex I deficiency in muscle
-
Larsson NG, Anderson O, Holme E, Olofors A, Wahlstrom J. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 1991; 30: 701-8.
-
(1991)
Ann Neurol
, vol.30
, pp. 701-708
-
-
Larsson, N.G.1
Anderson, O.2
Holme, E.3
Olofors, A.4
Wahlstrom, J.5
-
73
-
-
0000355861
-
Oxidative phosphorylation diseases
-
Scriver CR, Beaudet A, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Shoffner JM, Wallace DC. Oxidative phosphorylation diseases. In Scriver CR, Beaudet A, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited diseases. New York: McGraw-Hill; 1995. p. 1535-611.
-
(1995)
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 1535-1611
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
74
-
-
18744426519
-
Leber's hereditary optic neuropathy: Biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype
-
Carelli V, Ghelli A, Ratta M, Bacchilega E, Sangiorge S, Mancini R, et al. Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. Neurology 1997; 48: 1623-32.
-
(1997)
Neurology
, vol.48
, pp. 1623-1632
-
-
Carelli, V.1
Ghelli, A.2
Ratta, M.3
Bacchilega, E.4
Sangiorge, S.5
Mancini, R.6
-
75
-
-
0029967483
-
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
-
De Vries DD, Went IN, Bruyin GW, Scholte HR, Hofstra RM, Bolhuis PA, et al. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 1996; 58: 703-11.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 703-711
-
-
De Vries, D.D.1
Went, I.N.2
Bruyin, G.W.3
Scholte, H.R.4
Hofstra, R.M.5
Bolhuis, P.A.6
-
77
-
-
0030749664
-
Mitochondrial disease associated with the T8993G mutation on the mitochondrial ATPase 6 gene: A clinical, biochemical and molecular study in six families
-
Uziel G, Moroni I, Lamantes E, Fratta GM, Ciceri E, Carrara F, et al. Mitochondrial disease associated with the T8993G mutation on the mitochondrial ATPase 6 gene: a clinical, biochemical and molecular study in six families. J Neurol Neurosurg Psychiatry 1997; 63: 16-22.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.63
, pp. 16-22
-
-
Uziel, G.1
Moroni, I.2
Lamantes, E.3
Fratta, G.M.4
Ciceri, E.5
Carrara, F.6
-
78
-
-
0027451284
-
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
-
Santorelli FM, Shanske S, Macaya A, De Vivo DC, DiMauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 1993; 34: 827-34.
-
(1993)
Ann Neurol
, vol.34
, pp. 827-834
-
-
Santorelli, F.M.1
Shanske, S.2
Macaya, A.3
De Vivo, D.C.4
DiMauro, S.5
-
79
-
-
0030197977
-
Leigh syndrome associated with mitochondrial DNA 8993 T>G mutation and ragged-red fibers
-
Mak S-C, Chi C-S, Liu C-Y, Pang C-Y, Wei Y-H. Leigh syndrome associated with mitochondrial DNA 8993 T>G mutation and ragged-red fibers. Pediatr Neurol 1996; 15: 72-5.
-
(1996)
Pediatr Neurol
, vol.15
, pp. 72-75
-
-
Mak, S.-C.1
Chi, C.-S.2
Liu, C.-Y.3
Pang, C.-Y.4
Wei, Y.-H.5
-
80
-
-
0030665556
-
Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome
-
Ferlin T, Landrieu P, Rambaud C, Fernández H, Dumoulin R, Rustin P, et al. Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. J Pediatr 1997; 131: 447-9.
-
(1997)
J Pediatr
, vol.131
, pp. 447-449
-
-
Ferlin, T.1
Landrieu, P.2
Rambaud, C.3
Fernández, H.4
Dumoulin, R.5
Rustin, P.6
-
81
-
-
0029877629
-
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation
-
Santorelli FM, Mak S-C, Vázquez-Memije ME, Shanke S, Kranz-Eble P, Jain KD, et al. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. Pediatr Res 1996; 39: 914-7.
-
(1996)
Pediatr Res
, vol.39
, pp. 914-917
-
-
Santorelli, F.M.1
Mak, S.-C.2
Vázquez-Memije, M.E.3
Shanke, S.4
Kranz-Eble, P.5
Jain, K.D.6
-
82
-
-
0027166021
-
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
-
De Vries DD, van Engelen BGM, Gabreels FJM, Ruitenbeek W, van Dost BA. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol 1993; 34: 410-2.
-
(1993)
Ann Neurol
, vol.34
, pp. 410-412
-
-
De Vries, D.D.1
Van Engelen, B.G.M.2
Gabreels, F.J.M.3
Ruitenbeek, W.4
Van Dost, B.A.5
-
84
-
-
0029122341
-
A novel mitochondrial ATPase mutation in familial bilateral striatal necrosis
-
Thyagarajan D, Shanske S, Vázquez-Memije M, de Vivo D, DiMauro S. A novel mitochondrial ATPase mutation in familial bilateral striatal necrosis. Ann Neurol 1995; 38: 468-72.
-
(1995)
Ann Neurol
, vol.38
, pp. 468-472
-
-
Thyagarajan, D.1
Shanske, S.2
Vázquez-Memije, M.3
De Vivo, D.4
Dimauro, S.5
-
85
-
-
0028810803
-
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene
-
De Meirleir L, Seneca S, Lissens W, Schoentjes E, Desprechins B. Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. Pediatr Neurol 1995; 13: 242-6.
-
(1995)
Pediatr Neurol
, vol.13
, pp. 242-246
-
-
De Meirleir, L.1
Seneca, S.2
Lissens, W.3
Schoentjes, E.4
Desprechins, B.5
-
86
-
-
0030820191
-
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA
-
Campos Y, Martín MA, Rubio JC, Solana LG, García-Benayas C, Terradas JL, et al. Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. Neurology 1997; 49: 395-7.
-
(1997)
Neurology
, vol.49
, pp. 395-397
-
-
Campos, Y.1
Martín, M.A.2
Rubio, J.C.3
Solana, L.G.4
García-Benayas, C.5
Terradas, J.L.6
-
87
-
-
0030249144
-
Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death
-
Santorelli FM, Schiessel JS, Slonin AE, DiMauro S. Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death. Pediatr Neurol 1996; 15: 145-9.
-
(1996)
Pediatr Neurol
, vol.15
, pp. 145-149
-
-
Santorelli, F.M.1
Schiessel, J.S.2
Slonin, A.E.3
DiMauro, S.4
-
90
-
-
0030843425
-
A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy
-
Verma A, Piccoli DA, Bonilla E, Berry GT, DiMauro S, Moraes CT. A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy. Pediatr Res 1997; 42: 448-54.
-
(1997)
Pediatr Res
, vol.42
, pp. 448-454
-
-
Verma, A.1
Piccoli, D.A.2
Bonilla, E.3
Berry, G.T.4
DiMauro, S.5
Moraes, C.T.6
-
95
-
-
0031577531
-
Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene
-
Campos Y, Martín MA, Rubio JC, Cabello A, Gutiérrez del Olmo MC, Arenas J. Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene. Biochem Biophys Res Commun 1997; 238: 323-5.
-
(1997)
Biochem Biophys Res Commun
, vol.238
, pp. 323-325
-
-
Campos, Y.1
Martín, M.A.2
Rubio, J.C.3
Cabello, A.4
Gutiérrez Del Olmo, M.C.5
Arenas, J.6
-
97
-
-
0033013692
-
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene
-
Andreu AL, Tanji K, Bruno C, Hadjigeorgiou GM, Sue CM, Jay C, et al. Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene. Ann Neurol 1999; 45: 820-3.
-
(1999)
Ann Neurol
, vol.45
, pp. 820-823
-
-
Andreu, A.L.1
Tanji, K.2
Bruno, C.3
Hadjigeorgiou, G.M.4
Sue, C.M.5
Jay, C.6
-
98
-
-
0033358741
-
A stop-codon mutation in the human mtDNA cytochrome C oxidase I gene disrupts the functional structure of complex IV
-
Bruno C, Martinuzzi A, Tang Y, Andreu AL, Pallotti F, Bonilla E, et al. A stop-codon mutation in the human mtDNA cytochrome C oxidase I gene disrupts the functional structure of complex IV. Am J Hum Genet 1999; 65: 611-20.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 611-620
-
-
Bruno, C.1
Martinuzzi, A.2
Tang, Y.3
Andreu, A.L.4
Pallotti, F.5
Bonilla, E.6
-
99
-
-
0021162081
-
Deficiency of iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine-dinucleotide-ubiquinone oxireductase (complex I) in an infant with congenital lactic acidosis
-
Moreadith RW, Batshaw ML, Ohnishi T, Kerr D, Knox B, Jackson D, et al. Deficiency of iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine-dinucleotide-ubiquinone oxireductase (complex I) in an infant with congenital lactic acidosis. J Clin Invest 1984; 74: 685-97.
-
(1984)
J Clin Invest
, vol.74
, pp. 685-697
-
-
Moreadith, R.W.1
Batshaw, M.L.2
Ohnishi, T.3
Kerr, D.4
Knox, B.5
Jackson, D.6
-
100
-
-
0022487208
-
Respiratory chain defects in the mitochondria cultured skin fibroblasts from three patients with lactic acidemia
-
Robinson BH, Ward J, Goodyer P, Beaudet A. Respiratory chain defects in the mitochondria cultured skin fibroblasts from three patients with lactic acidemia. J Clin Invest 1986; 77: 1422-7.
-
(1986)
J Clin Invest
, vol.77
, pp. 1422-1427
-
-
Robinson, B.H.1
Ward, J.2
Goodyer, P.3
Beaudet, A.4
-
102
-
-
0020514803
-
NADH-CoQ reductase deficient myopathy: Successful treatment with riboflavin
-
Arts WFM, Scholte HR, Bogaard JM, Kerrebijn KF, Luyt-Houwen IEM. NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin. Lancet 1983; 2: 581-2.
-
(1983)
Lancet
, vol.2
, pp. 581-582
-
-
Arts, W.F.M.1
Scholte, H.R.2
Bogaard, J.M.3
Kerrebijn, K.F.4
Luyt-Houwen, I.E.M.5
-
103
-
-
0024403260
-
Tissue-specific defect of complex I of the mitochondrial respiratory chain
-
Watmough NJ, Birch-Machin MA, Bindoft LA, Aynsely-Green A, Simpson K, Ragan CI, et al. Tissue-specific defect of complex I of the mitochondrial respiratory chain. Biochem Biophys Res Commun 1989; 160: 623-7.
-
(1989)
Biochem Biophys Res Commun
, vol.160
, pp. 623-627
-
-
Watmough, N.J.1
Birch-Machin, M.A.2
Bindoft, L.A.3
Aynsely-Green, A.4
Simpson, K.5
Ragan, C.I.6
-
104
-
-
0025013774
-
A case of mitochondrial myopathy, lactic acidosis and complex I deficiency
-
Bet L, Bresolin N, Moggio M, Media G, Prelle A, Schapira AH. A case of mitochondrial myopathy, lactic acidosis and complex I deficiency. J Neurol 1990; 237: 399-404.
-
(1990)
J Neurol
, vol.237
, pp. 399-404
-
-
Bet, L.1
Bresolin, N.2
Moggio, M.3
Media, G.4
Prelle, A.5
Schapira, A.H.6
-
105
-
-
0027949132
-
Partial NADH dehydrogenase defect presenting as spastic cerebral palsy
-
Tsao C, Wright FS, Boesel CP, Luquette M. Partial NADH dehydrogenase defect presenting as spastic cerebral palsy. Brain Dev 1994; 16: 393-5.
-
(1994)
Brain Dev
, vol.16
, pp. 393-395
-
-
Tsao, C.1
Wright, F.S.2
Boesel, C.P.3
Luquette, M.4
-
106
-
-
0025021581
-
Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome
-
Fujii T, Ito M, Okuno T, Mutoh K, Nihiskmori R, Mikawa H. Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome. J Pediatr 1990; 116: 84-7.
-
(1990)
J Pediatr
, vol.116
, pp. 84-87
-
-
Fujii, T.1
Ito, M.2
Okuno, T.3
Mutoh, K.4
Nihiskmori, R.5
Mikawa, H.6
-
107
-
-
0032753146
-
Does the patient have a mitochondrial encephalomyopathy?
-
DiMauro S, Bonilla E, De Vivo DC. Does the patient have a mitochondrial encephalomyopathy? J Child Neurol 1999; 14 (Suppl 1): S23-35.
-
(1999)
J Child Neurol
, vol.14
, Issue.1 SUPPL.
-
-
DiMauro, S.1
Bonilla, E.2
De Vivo, D.C.3
-
108
-
-
8944244529
-
Deficiency of respiratory chain complex I is a common cause of Leigh disease
-
Morris AAM, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, Woodward CE, et al. Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol 1996; 40: 25-30.
-
(1996)
Ann Neurol
, vol.40
, pp. 25-30
-
-
Morris, A.A.M.1
Leonard, J.V.2
Brown, G.K.3
Bidouki, S.K.4
Bindoff, L.A.5
Woodward, C.E.6
-
109
-
-
0028965925
-
Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency
-
Antozzi C, Franceschetti S, Filippini G, Barbiroli N, Savdiardo M, Fiachino F, et al. Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency. J Neurol Sci 1995; 129: 152-61.
-
(1995)
J Neurol Sci
, vol.129
, pp. 152-161
-
-
Antozzi, C.1
Franceschetti, S.2
Filippini, G.3
Barbiroli, N.4
Savdiardo, M.5
Fiachino, F.6
-
110
-
-
0344193637
-
Congenital ocular motor apraxia associated with myopathy, external hydrocephalus and NADH dehydrogenase deficiency
-
Eirís J, Rodríguez E, Pintos E, Campos Y, Castro-Gago M. Congenital ocular motor apraxia associated with myopathy, external hydrocephalus and NADH dehydrogenase deficiency. Brain Dev 1998; 20: 175-8.
-
(1998)
Brain Dev
, vol.20
, pp. 175-178
-
-
Eirís, J.1
Rodríguez, E.2
Pintos, E.3
Campos, Y.4
Castro-Gago, M.5
-
111
-
-
0030657965
-
Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita
-
Laubscher BL, Janzer RC, Krähenbuhi S, Hirt L, Deonna T. Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita. Pediatr Neurol 1997; 17: 249-51.
-
(1997)
Pediatr Neurol
, vol.17
, pp. 249-251
-
-
Laubscher, B.L.1
Janzer, R.C.2
Krähenbuhi, S.3
Hirt, L.4
Deonna, T.5
-
112
-
-
0033976915
-
Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita
-
Vielhaber S, Feistner H, Schneider W, Weis J, Kunz WS. Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita. Pediatr Neurol 2000; 22: 56-6.
-
(2000)
Pediatr Neurol
, vol.22
, pp. 56-56
-
-
Vielhaber, S.1
Feistner, H.2
Schneider, W.3
Weis, J.4
Kunz, W.S.5
-
113
-
-
0030820842
-
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy and complex I deficiency
-
Dionisi-Vici C, Ritenbeek W, Fariello G, Bentlage H, Wanders JA, Schägger H, et al. New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy and complex I deficiency. Ann Neurol 1997; 42: 661-5.
-
(1997)
Ann Neurol
, vol.42
, pp. 661-665
-
-
Dionisi-Vici, C.1
Ritenbeek, W.2
Fariello, G.3
Bentlage, H.4
Wanders, J.A.5
Schägger, H.6
-
114
-
-
0033967568
-
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
-
Loeffen J, Smeitink J, Trijbels JME, Janssen AJM, Triepels R, Sengers R, et al. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 2000; 15: 123-34.
-
(2000)
Hum Mutat
, vol.15
, pp. 123-134
-
-
Loeffen, J.1
Smeitink, J.2
Trijbels, J.M.E.3
Janssen, A.J.M.4
Triepels, R.5
Sengers, R.6
-
115
-
-
0032471351
-
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
-
Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 1998; 63: 1598-608.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1598-1608
-
-
Loeffen, J.1
Smeitink, J.2
Triepels, R.3
Smeets, R.4
Schuelke, M.5
Sengers, R.6
-
116
-
-
17344365132
-
Demonstration of a new pathogenic mutation in human complex I deficiency: A 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit
-
Van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, et al. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet 1998; 62: 262-8.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 262-268
-
-
Van Den Heuvel, L.1
Ruitenbeek, W.2
Smeets, R.3
Gelman-Kohan, Z.4
Elpeleg, O.5
Loeffen, J.6
-
117
-
-
0033050180
-
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
-
Triepels RH, van den Heuvel LP, Loeffen JLC, Buskens CAF, Smeers RJP, Rubio Gozalbo ME, et al. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol 1999; 45: 787-90.
-
(1999)
Ann Neurol
, vol.45
, pp. 787-790
-
-
Triepels, R.H.1
Van Den Heuvel, L.P.2
Loeffen, J.L.C.3
Buskens, C.A.F.4
Smeers, R.J.P.5
Rubio Gozalbo, M.E.6
-
118
-
-
0032977683
-
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
-
Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, et al. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 1999; 21: 260-1.
-
(1999)
Nat Genet
, vol.21
, pp. 260-261
-
-
Schuelke, M.1
Smeitink, J.2
Mariman, E.3
Loeffen, J.4
Plecko, B.5
Trijbels, F.6
-
119
-
-
0020824672
-
A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency
-
Sengers RCA, Fischer JC, Trijbels JMF, Ruitenbeek W, Stadhouders AM, Terlaak HJ, et al. A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency. Eur J Pediatr 1983; 140: 332-7.
-
(1983)
Eur J Pediatr
, vol.140
, pp. 332-337
-
-
Sengers, R.C.A.1
Fischer, J.C.2
Trijbels, J.M.F.3
Ruitenbeek, W.4
Stadhouders, A.M.5
Terlaak, H.J.6
-
120
-
-
0021204675
-
Mitochondrial myopathy with lactic acidosis and deficient activity of muscle succinate cytochrome c oxireductase
-
Behbehani AW, Goebel H, Osse G, Gabriel M, Langenbeck U, Berden J, et al. Mitochondrial myopathy with lactic acidosis and deficient activity of muscle succinate cytochrome c oxireductase. Eur J Pediatr 1984; 143: 67-71.
-
(1984)
Eur J Pediatr
, vol.143
, pp. 67-71
-
-
Behbehani, A.W.1
Goebel, H.2
Osse, G.3
Gabriel, M.4
Langenbeck, U.5
Berden, J.6
-
121
-
-
0021331581
-
Mitocnondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity
-
Riggs JE, Schochet SS Jr, Fakadej AV, Papadimitriou A, DiMauro S, Crosby TW, et al. Mitocnondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity. Neurology 1984; 34: 48-53.
-
(1984)
Neurology
, vol.34
, pp. 48-53
-
-
Riggs, J.E.1
Schochet Jr., S.S.2
Fakadej, A.V.3
Papadimitriou, A.4
DiMauro, S.5
Crosby, T.W.6
-
122
-
-
0023914179
-
Mitochondrial myopathy with lactic acidemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: Cytochrome c oxidoreductase activity
-
Sperl W, Ritenbeek W, Trijbels JMF. Mitochondrial myopathy with lactic acidemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity. Eur J Pediatr 1988; 147: 418-21.
-
(1988)
Eur J Pediatr
, vol.147
, pp. 418-421
-
-
Sperl, W.1
Ritenbeek, W.2
Trijbels, J.M.F.3
-
123
-
-
0027971388
-
Benign mitochondrial myopathy with decreased succinate cytochrome c reductase activity
-
Arpa J, Campos Y, Gutiérez-Molina M, Cruz-Martínez A, Arenas J, Caminero A, et al. Benign mitochondrial myopathy with decreased succinate cytochrome c reductase activity. Acta Neurol Scand 1994; 90: 281-4.
-
(1994)
Acta Neurol Scand
, vol.90
, pp. 281-284
-
-
Arpa, J.1
Campos, Y.2
Gutiérez-Molina, M.3
Cruz-Martínez, A.4
Arenas, J.5
Caminero, A.6
-
124
-
-
0025951154
-
Deficiency of skeletal muscle succinate dehydrogenase and aconitase
-
Haller RG, Henriksson KG, Jorfeldt L, Hultman E, Wibom R, Sahlin K, et al. Deficiency of skeletal muscle succinate dehydrogenase and aconitase. J Clin Invest 1994; 88: 1197-206.
-
(1994)
J Clin Invest
, vol.88
, pp. 1197-1206
-
-
Haller, R.G.1
Henriksson, K.G.2
Jorfeldt, L.3
Hultman, E.4
Wibom, R.5
Sahlin, K.6
-
125
-
-
0027056128
-
Deficiency in complex II of the respiratory chain presenting as a leukodystrophy in two sisters with Leigh syndrome
-
Bourgeois M, Goutiéres F, Chretien D, Rustin P, Munnich A, Aicardi J. Deficiency in complex II of the respiratory chain presenting as a leukodystrophy in two sisters with Leigh syndrome. Brain Dev 1992; 14: 404-8.
-
(1992)
Brain Dev
, vol.14
, pp. 404-408
-
-
Bourgeois, M.1
Goutiéres, F.2
Chretien, D.3
Rustin, P.4
Munnich, A.5
Aicardi, J.6
-
126
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Burgeois M, Viegas-Pequignt E, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995; 11: 144-9.
-
(1995)
Nat Genet
, vol.11
, pp. 144-149
-
-
Bourgeron, T.1
Rustin, P.2
Chretien, D.3
Birch-Machin, M.4
Burgeois, M.5
Viegas-Pequignt, E.6
-
127
-
-
0141610413
-
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
-
Ogasahara S, Engel AG, Frens D, Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci USA 1989; 86: 2379-82.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2379-2382
-
-
Ogasahara, S.1
Engel, A.G.2
Frens, D.3
Mack, D.4
-
130
-
-
0024584371
-
Fatal lactic acidosis in infancy with defect of complex III of the respiratory chain
-
Birch-Machin MA, Shephered IM, Watmough NJ, Sherratt HSA, Bartlen K, Darley-Usmar VM, et al. Fatal lactic acidosis in infancy with defect of complex III of the respiratory chain. Pediatr Res 1989; 25: 553-9.
-
(1989)
Pediatr Res
, vol.25
, pp. 553-559
-
-
Birch-Machin, M.A.1
Shephered, I.M.2
Watmough, N.J.3
Hsa, S.4
Bartlen, K.5
Darley-Usmar, V.M.6
-
131
-
-
0023820495
-
Defects in the cytochrome bc1 complex in mitochondrial diseases
-
Kennaway NG. Defects in the cytochrome bc1 complex in mitochondrial diseases. J Bioenerg Biomembr 1988; 20: 325-52.
-
(1988)
J Bioenerg Biomembr
, vol.20
, pp. 325-352
-
-
Kennaway, N.G.1
-
132
-
-
0021219976
-
Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain
-
Kennaway NG, Buist NR, Darley Usmar VM, Papadimitriou A, DiMauro S, Kelley RI, et al. Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain. Pediatr Res 1984; 18: 991-9.
-
(1984)
Pediatr Res
, vol.18
, pp. 991-999
-
-
Kennaway, N.G.1
Buist, N.R.2
Darley Usmar, V.M.3
Papadimitriou, A.4
DiMauro, S.5
Kelley, R.I.6
-
133
-
-
0022523472
-
Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration
-
Reichman H, Rohkamm R, Zeviani M, Servidei S, Ricker K, DiMauro S. Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration. Arch Neurol 1986; 43: 957-61.
-
(1986)
Arch Neurol
, vol.43
, pp. 957-961
-
-
Reichman, H.1
Rohkamm, R.2
Zeviani, M.3
Servidei, S.4
Ricker, K.5
DiMauro, S.6
-
134
-
-
0033619147
-
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
-
Andreu LA, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 1999; 341: 1037-44.
-
(1999)
N Engl J Med
, vol.341
, pp. 1037-1044
-
-
Andreu, L.A.1
Hanna, M.G.2
Reichmann, H.3
Bruno, C.4
Penn, A.S.5
Tanji, K.6
-
135
-
-
0021186586
-
Histiocytoid cardiomyopathy of infancy: Deficiency of reducible cytochrome b in heart mitochondria
-
Papadimitriou A, Neustein HB, DiMauro S, Stanton R, Bresolini N. Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria. Pediatr Res 1984; 18: 1023-8.
-
(1984)
Pediatr Res
, vol.18
, pp. 1023-1028
-
-
Papadimitriou, A.1
Neustein, H.B.2
DiMauro, S.3
Stanton, R.4
Bresolini, N.5
-
136
-
-
0028806043
-
Neonatal de Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain
-
Wendel U, Ruitenbeek W, Bentagle HACM, Senger RCA, Trijbels JMF. Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain. Eur J Pediatr 1995; 154: 915-8.
-
(1995)
Eur J Pediatr
, vol.154
, pp. 915-918
-
-
Wendel, U.1
Ruitenbeek, W.2
Bentagle, H.A.C.M.3
Senger, R.C.A.4
Trijbels, J.M.F.5
-
137
-
-
0025642695
-
Partial cytochrome b deficiency and generalized dystonia
-
Nigro MA, Martens ME, Awerbuch GI, Peterson PL, Lee C-P. Partial cytochrome b deficiency and generalized dystonia. Pediatr Neurol 1990; 6: 407-10.
-
(1990)
Pediatr Neurol
, vol.6
, pp. 407-410
-
-
Nigro, M.A.1
Martens, M.E.2
Awerbuch, G.I.3
Peterson, P.L.4
Lee, C.-P.5
-
138
-
-
0027210665
-
Síndrome de West asociado a un déficit del complejo III de la cadena respiratoria mitocondrial
-
Castro-Gago M, Pavón Belinchón P, Fernández Seara MaJ, Rodrigo Sáez E, Beiras Iglesias A, Pérez Sánchez A. Síndrome de West asociado a un déficit del complejo III de la cadena respiratoria mitocondrial. An Esp Pediatr 1993; 38: 355-8.
-
(1993)
An Esp Pediatr
, vol.38
, pp. 355-358
-
-
Castro-Gago, M.1
Pavón Belinchón, P.2
Fernández Seara, Ma.J.3
Rodrigo Sáez, E.4
Beiras Iglesias, A.5
Pérez Sánchez, A.6
-
139
-
-
0030665169
-
Cirrhosis in a child with deficiency of mitochondrial respiratory-chain succinate-cytochrome c-oxidoreductase
-
Sewell AC, Sperl W, Herwig J, Böbles HJ. Cirrhosis in a child with deficiency of mitochondrial respiratory-chain succinate-cytochrome c-oxidoreductase. J Pediatr 1997; 131: 166-8.
-
(1997)
J Pediatr
, vol.131
, pp. 166-168
-
-
Sewell, A.C.1
Sperl, W.2
Herwig, J.3
Böbles, H.J.4
-
140
-
-
0001657015
-
Mitochondrial diseases
-
Swaiman KF, Ashwal S eds. St. Louis: Mosby
-
De Vivo DC, DiMauro S. Mitochondrial diseases. In Swaiman KF, Ashwal S eds. Pediatric neurology. 3 ed. Vol. 1. St. Louis: Mosby; 1999. p. 494-509.
-
(1999)
Pediatric Neurology. 3 Ed.
, vol.1
, pp. 494-509
-
-
De Vivo, D.C.1
DiMauro, S.2
-
141
-
-
0028926759
-
Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome
-
Zafeiriou DI, Koletzko B, Mueller-Felber W, Paetzke I, Kueffer G, Jensen M. Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome. Brain Dev 1995; 17: 117-21.
-
(1995)
Brain Dev
, vol.17
, pp. 117-121
-
-
Zafeiriou, D.I.1
Koletzko, B.2
Mueller-Felber, W.3
Paetzke, I.4
Kueffer, G.5
Jensen, M.6
-
142
-
-
0030152946
-
Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua
-
Elida M, Musumeci A, Ferri R, Colamaria V, Azan G, Greco D, et al. Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua. Brain Dev 1996; 18: 207-11.
-
(1996)
Brain Dev
, vol.18
, pp. 207-211
-
-
Elida, M.1
Musumeci, A.2
Ferri, R.3
Colamaria, V.4
Azan, G.5
Greco, D.6
-
143
-
-
0002439705
-
Cytochrome oxidase deficiency: Progress and problems
-
Schapira AHV, DiMauro S, eds. Oxford: Butterworth-Heinemann
-
DiMauro S, Hirano M, Bonilla E, Moraes CT, Schon EA. Cytochrome oxidase deficiency: progress and problems. In Schapira AHV, DiMauro S, eds. Mitochondrial disorders in neurology. Oxford: Butterworth-Heinemann; 1994. p. 91-115.
-
(1994)
Mitochondrial Disorders in Neurology
, pp. 91-115
-
-
DiMauro, S.1
Hirano, M.2
Bonilla, E.3
Moraes, C.T.4
Schon, E.A.5
-
144
-
-
0031044985
-
Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome
-
Adams PL, Lightowlers RN, Tumbull DM. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Ann Neurol 1997; 41: 268-70.
-
(1997)
Ann Neurol
, vol.41
, pp. 268-270
-
-
Adams, P.L.1
Lightowlers, R.N.2
Tumbull, D.M.3
-
145
-
-
17344362021
-
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
-
Zhu Z, Yao J, Johns T, Fu K, De Bie I, MacMillan C, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 1998; 20: 337-43.
-
(1998)
Nat Genet
, vol.20
, pp. 337-343
-
-
Zhu, Z.1
Yao, J.2
Johns, T.3
Fu, K.4
De Bie, I.5
MacMillan, C.6
-
146
-
-
0032470811
-
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
-
Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998; 63: 1609-21.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1609-1621
-
-
Tiranti, V.1
Hoertnagel, K.2
Carrozzo, R.3
Galimberti, C.4
Munaro, M.5
Granatiero, M.6
-
147
-
-
0020502138
-
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency
-
DiMauro S, Nicholson JF, Hays AP, Easthowodd AB, Papadimitiou A, Koeningsberger R, et al. Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Ann Neurol 1983; 14: 226-34.
-
(1983)
Ann Neurol
, vol.14
, pp. 226-234
-
-
DiMauro, S.1
Nicholson, J.F.2
Hays, A.P.3
Easthowodd, A.B.4
Papadimitiou, A.5
Koeningsberger, R.6
-
148
-
-
0030197655
-
Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency
-
Wada H, Woo M, Nishio H, Nagaki S, Yanagawa H, Imamura A, et al. Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency. Brain Dev 1996; 18: 263-8.
-
(1996)
Brain Dev
, vol.18
, pp. 263-268
-
-
Wada, H.1
Woo, M.2
Nishio, H.3
Nagaki, S.4
Yanagawa, H.5
Imamura, A.6
-
149
-
-
0026064240
-
Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy. An immunohistochemical approach
-
Tritschler FJ, Bonilla E, Lombes A, Andreetta F, Servidei S, Schneyder B, et al. Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy. An immunohistochemical approach. Neurology 1991; 41: 300-5.
-
(1991)
Neurology
, vol.41
, pp. 300-305
-
-
Tritschler, F.J.1
Bonilla, E.2
Lombes, A.3
Andreetta, F.4
Servidei, S.5
Schneyder, B.6
-
150
-
-
0023615870
-
Myo-, neuro-, gastrointestinal encephalomyopathy (NMGIE syndrome) due to partial deficiency of cytochrome c oxidase: A new mitochondrial multisystem disorder
-
Bardosi A, Creutzfeldt W, DiMauro S, Felgenhauer K, Friede RL, Goebel HM, et al. Myo-, neuro-, gastrointestinal encephalomyopathy (NMGIE syndrome) due to partial deficiency of cytochrome c oxidase: a new mitochondrial multisystem disorder. Acta Neuropathol 1987; 74: 248-58.
-
(1987)
Acta Neuropathol
, vol.74
, pp. 248-258
-
-
Bardosi, A.1
Creutzfeldt, W.2
DiMauro, S.3
Felgenhauer, K.4
Friede, R.L.5
Goebel, H.M.6
-
152
-
-
0033576234
-
Encefalomiopatía mitocondrial precoz por deficiencia aislada del complejo IV compatible con el síndrome de Alpers-Huttenlocher: A propósito de dos observaciones
-
Castro-Gago M, González-Conde V, Fernández-Seara MaJ, RodrigoSáez E, Fernández-Cebrián S, Alonso-Martín A, et al. Encefalomiopatía mitocondrial precoz por deficiencia aislada del complejo IV compatible con el síndrome de Alpers-Huttenlocher: a propósito de dos observaciones. Rev Neurol 1999; 29: 912-7.
-
(1999)
Rev Neurol
, vol.29
, pp. 912-917
-
-
Castro-Gago, M.1
González-Conde, V.2
Fernández-Seara, Ma.J.3
Rodrigosáez, E.4
Fernández-Cebrián, S.5
Alonso-Martín, A.6
-
153
-
-
0029811567
-
Respiratory chain dysfunction in progressive neuronal degeneration of childhood with liver disease
-
Morris AAM, Singh-Kler R, Perry RH, Griffiths PD, Burt AD, Wong CP, et al. Respiratory chain dysfunction in progressive neuronal degeneration of childhood with liver disease. J Child Neurol 1996; 11: 417-9.
-
(1996)
J Child Neurol
, vol.11
, pp. 417-419
-
-
Morris, A.A.M.1
Singh-Kler, R.2
Perry, R.H.3
Griffiths, P.D.4
Burt, A.D.5
Wong, C.P.6
-
154
-
-
0025655338
-
Familial spastic paraparesis: A case of a mitochondrial disorder
-
Beltran RS, Coker SB. Familial spastic paraparesis: a case of a mitochondrial disorder. Pediatr Neurosurg 1990; 16: 40-2.
-
(1990)
Pediatr Neurosurg
, vol.16
, pp. 40-42
-
-
Beltran, R.S.1
Coker, S.B.2
-
155
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutation in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernández P, et al. Spastic paraplegia and OXPHOS impairment caused by mutation in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93: 973-83.
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
De Fusco, M.2
Ciarmatori, S.3
Zeviani, M.4
Mora, M.5
Fernández, P.6
-
156
-
-
0029781669
-
Cerebellar hypoplasia in respiratory chain dysfunction
-
Lincke CR, van den Bogert C, Nijtman LGJ, Wanders RJA, Tamminga P, Barth PG. Cerebellar hypoplasia in respiratory chain dysfunction. Neuropediatrics 1996; 27: 216-8.
-
(1996)
Neuropediatrics
, vol.27
, pp. 216-218
-
-
Lincke, C.R.1
Van Den Bogert, C.2
Nijtman, L.G.J.3
Wanders, R.J.A.4
Tamminga, P.5
Barth, P.G.6
-
157
-
-
0033556363
-
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency
-
Rubio-Gozalbo ME, Smeitink JAM, Ruitenbeek W, Laak HT, Mullaart RA, Schuelke M, et al. Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency. Neurology 1999; 52: 383-6.
-
(1999)
Neurology
, vol.52
, pp. 383-386
-
-
Rubio-Gozalbo, M.E.1
Smeitink, J.A.M.2
Ruitenbeek, W.3
Laak, H.T.4
Mullaart, R.A.5
Schuelke, M.6
-
158
-
-
0031666598
-
A case of Ohtahara syndrome with cytochrome oxidase deficiency
-
Williams AN, Gray RG, Poulton K, Ramani P, Whitehouse WPA. A case of Ohtahara syndrome with cytochrome oxidase deficiency. Dev Med Child Neurol 1998; 40: 568-70.
-
(1998)
Dev Med Child Neurol
, vol.40
, pp. 568-570
-
-
Williams, A.N.1
Gray, R.G.2
Poulton, K.3
Ramani, P.4
Whitehouse, W.P.A.5
-
159
-
-
0029889790
-
Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction
-
Zelnik N, Axeirod FB, Leshinsky E, Griebel ML, Kolodny EH. Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction. Pediatr Neurol 1996; 14: 251-4.
-
(1996)
Pediatr Neurol
, vol.14
, pp. 251-254
-
-
Zelnik, N.1
Axeirod, F.B.2
Leshinsky, E.3
Griebel, M.L.4
Kolodny, E.H.5
-
160
-
-
0032699506
-
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
-
Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 1999; 23: 333-7.
-
(1999)
Nat Genet
, vol.23
, pp. 333-337
-
-
Papadopoulou, L.C.1
Sue, C.M.2
Davidson, M.M.3
Tanji, K.4
Nishino, I.5
Sadlock, J.E.6
-
161
-
-
0017196482
-
Neuromuscular disorder associated with a defect in mitochondrial energy supply
-
Schotland DL, DiMauro S, Bonilla E, Scarpa A, Lee CP. Neuromuscular disorder associated with a defect in mitochondrial energy supply. Arch Neurol 1976; 33: 475-9.
-
(1976)
Arch Neurol
, vol.33
, pp. 475-479
-
-
Schotland, D.L.1
DiMauro, S.2
Bonilla, E.3
Scarpa, A.4
Lee, C.P.5
-
162
-
-
0027288551
-
Fatal infantile mitochondrial encephalomyopathy with complex I and IV deficiencies
-
Nagal T, Tuchiya Y, Taguchi Y, Sakuta R, Ichiki T, Nonaka I. Fatal
-
(1993)
Pediatr Neurol
, vol.9
, pp. 151-154
-
-
Nagal, T.1
Tuchiya, Y.2
Taguchi, Y.3
Sakuta, R.4
Ichiki, T.5
Nonaka, I.6
-
163
-
-
0028850341
-
Severe myoclonic epilepsy associated with mitochondrial cytopathy
-
Castro-Gago M, Eirís J, Fernández-Bustillo J, Escribano D, Pintos E, Monasterio L, et al. Severe myoclonic epilepsy associated with mitochondrial cytopathy. Childs Nerv Syst 1995; 11: 630-3.
-
(1995)
Childs Nerv Syst
, vol.11
, pp. 630-633
-
-
Castro-Gago, M.1
Eirís, J.2
Fernández-Bustillo, J.3
Escribano, D.4
Pintos, E.5
Monasterio, L.6
-
164
-
-
0027167059
-
Forma infantil precoz de citopatía mitocondrial por déficit de los complejos I y IV de la cadena respiratoria
-
Castro-Gago M, González Pereira MJ, Fernández Seara MaJ, Rodicio M, Pintos E, Fuster Soler JL, et al. Forma infantil precoz de citopatía mitocondrial por déficit de los complejos I y IV de la cadena respiratoria. Rev Esp Pediatr 1993; 49: 163-7.
-
(1993)
Rev Esp Pediatr
, vol.49
, pp. 163-167
-
-
Castro-Gago, M.1
González Pereira, M.J.2
Fernández Seara, Ma.J.3
Rodicio, M.4
Pintos, E.5
Fuster Soler, J.L.6
-
165
-
-
0028215254
-
Enfermedad de Leigh secundaria a deficiencia de los complejos I, III y IV de la cadena respiratoria mitocondrial
-
Sánchez Lastres J, Álvez F, Pintos E, Campos Y, Arenas J, Castro-Gago M. Enfermedad de Leigh secundaria a deficiencia de los complejos I, III y IV de la cadena respiratoria mitocondrial. Rev Esp Neurol 1994; 9: 29-32.
-
(1994)
Rev Esp Neurol
, vol.9
, pp. 29-32
-
-
Sánchez Lastres, J.1
Álvez, F.2
Pintos, E.3
Campos, Y.4
Arenas, J.5
Castro-Gago, M.6
-
166
-
-
0029053877
-
Amaurosis congénita de Leber asociada a citopatía mitocondrial por déficit del complejo IV
-
Castro-Gago M, Eirís Puñal J, Fernández Bustillo JM, Novo Rodríguez I, Pintos Martínez E, Peña Guitián J. Amaurosis congénita de Leber asociada a citopatía mitocondrial por déficit del complejo IV. An Esp Pediatr 1995; 42: 374-6.
-
(1995)
An Esp Pediatr
, vol.42
, pp. 374-376
-
-
Castro-Gago, M.1
Eirís Puñal, J.2
Fernández Bustillo, J.M.3
Novo Rodríguez, I.4
Pintos Martínez, E.5
Peña Guitián, J.6
-
167
-
-
0029872027
-
Leber's congenital amaurosis associated with mitochondrial dysfunction
-
Castro-Gago M, Pintos-Martínez E, Beiras-Iglesias A, Maroto S, Campos Y, Arenas J, et al. Leber's congenital amaurosis associated with mitochondrial dysfunction. J Child Neurol 1996; 11: 108-11.
-
(1996)
J Child Neurol
, vol.11
, pp. 108-111
-
-
Castro-Gago, M.1
Pintos-Martínez, E.2
Beiras-Iglesias, A.3
Maroto, S.4
Campos, Y.5
Arenas, J.6
-
168
-
-
33745797435
-
-
Paris: 24ème Réunion Annuelle de la Société Européenne de Neurologie Pédiatrique;
-
Castro-Gago M, Pintos E, Maroto S, Novo I, Arenas J, Campos Y, et al. Amaurose congénitale de Leber associée avec citopathie mitochondriales. A propos de cinq observations. Paris: 24ème Réunion Annuelle de la Société Européenne de Neurologie Pédiatrique; 1996. p. 50.
-
(1996)
Amaurose Congénitale de Leber Associée Avec Citopathie Mitochondriales. A Propos de Cinq Observations
, pp. 50
-
-
Castro-Gago, M.1
Pintos, E.2
Maroto, S.3
Novo, I.4
Arenas, J.5
Campos, Y.6
-
169
-
-
0032972756
-
Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction
-
Castro-Gago M, Alonso A, Pintos-Martínez E, Beiras-Iglesias A, Campos Y, Arenas J, et al. Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction. J Child Neurol 1999; 14: 131-5.
-
(1999)
J Child Neurol
, vol.14
, pp. 131-135
-
-
Castro-Gago, M.1
Alonso, A.2
Pintos-Martínez, E.3
Beiras-Iglesias, A.4
Campos, Y.5
Arenas, J.6
-
170
-
-
0033398784
-
Congenital hydranencephalic-hydrocephalic syndrome and mitochondrial dysfunction
-
Castro-Gago M, Iglesias-Diz M, Eirís-Puñal J. Congenital hydranencephalic-hydrocephalic syndrome and mitochondrial dysfunction. J Child Neurol 1999; 14: 824.
-
(1999)
J Child Neurol
, vol.14
, pp. 824
-
-
Castro-Gago, M.1
Iglesias-Diz, M.2
Eirís-Puñal, J.3
-
171
-
-
12144263535
-
The mitochondrial protein import machinery
-
Sato T, DiMauro S, eds. New York: Raven Press
-
Schatz G. The mitochondrial protein import machinery. In Sato T, DiMauro S, eds. Mitochondrial encephalomyopathies. New York: Raven Press; 1991. p. 57-73.
-
(1991)
Mitochondrial Encephalomyopathies
, pp. 57-73
-
-
Schatz, G.1
-
172
-
-
0029162897
-
An amino acid substitution in the pyruvate dehydrogenase E1 affecting mitochondrial import of the precursor protein
-
Takakubo F, Cartwright P, Hoogenraad N, Thorburn DR, Collins F, Lithgow T, et al. An amino acid substitution in the pyruvate dehydrogenase E1 affecting mitochondrial import of the precursor protein. Am J Hum Genet 1995; 57: 772-80.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 772-780
-
-
Takakubo, F.1
Cartwright, P.2
Hoogenraad, N.3
Thorburn, D.R.4
Collins, F.5
Lithgow, T.6
-
173
-
-
0025328563
-
Mitochondrial myopathy with a defect of mitochondrial protein transport
-
Schapira AHV, Cooper JM, Morgan-Hughes JA, Landon DN, Clark JB. Mitochondrial myopathy with a defect of mitochondrial protein transport. N Engl J Med 1990; 323: 37-42.
-
(1990)
N Engl J Med
, vol.323
, pp. 37-42
-
-
Schapira, A.H.V.1
Cooper, J.M.2
Morgan-Hughes, J.A.3
Landon, D.N.4
Clark, J.B.5
-
174
-
-
0027246118
-
A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60
-
Agsteribbe E, Huckriede A, Veenhuis M, Ruiters MHJ, Niezen-Koning KE, Skjeldal OH, et al. A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60. Biochem Biophys Res Commun 1993; 193: 146-54.
-
(1993)
Biochem Biophys Res Commun
, vol.193
, pp. 146-154
-
-
Agsteribbe, E.1
Huckriede, A.2
Veenhuis, M.3
Ruiters, M.H.J.4
Niezen-Koning, K.E.5
Skjeldal, O.H.6
-
175
-
-
0030750011
-
A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60
-
Briones P, Vilaseca MA, Ribes A, Vernet A, Lluch M, Cusi V, et al. A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60. J Inherit Metab Dis 1997; 20: 569-77.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 569-577
-
-
Briones, P.1
Vilaseca, M.A.2
Ribes, A.3
Vernet, A.4
Lluch, M.5
Cusi, V.6
-
176
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
-
Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989; 339: 309-11.
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Servidei, S.2
Gellera, C.3
Bertini, E.4
DiMauro, S.5
DiDonato, S.6
-
177
-
-
0343624979
-
Inherited Mendelian defects
-
DiMauro S, Wallace DC, eds. New York: Raven Press
-
Zeviani M, Tiranti V. Inherited Mendelian defects. In DiMauro S, Wallace DC, eds. Mitochondrial DNA in human pathology. New York: Raven Press; 1993. p. 85-95.
-
(1993)
Mitochondrial DNA in Human Pathology
, pp. 85-95
-
-
Zeviani, M.1
Tiranti, V.2
-
178
-
-
0026637067
-
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
-
Suomalainen A, Majander A, Haltia M, Somer H, Lönnqvist J, Savoniaus MJ, et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 1992; 90: 61-6.
-
(1992)
J Clin Invest
, vol.90
, pp. 61-66
-
-
Suomalainen, A.1
Majander, A.2
Haltia, M.3
Somer, H.4
Lönnqvist, J.5
Savoniaus, M.J.6
-
179
-
-
0028833524
-
An autosomal locus predisposing to deletions of mitochondrial DNA
-
Suomalainen A, Kaukonen J, Amati P, Timonen M, Haltia J, Weissenbach H, et al. An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 1995; 9: 146-51.
-
(1995)
Nat Genet
, vol.9
, pp. 146-151
-
-
Suomalainen, A.1
Kaukonen, J.2
Amati, P.3
Timonen, M.4
Haltia, J.5
Weissenbach, H.6
-
180
-
-
0030898772
-
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: Clinical, biochemical, and molecular genetic features of the 10q-linked disease
-
Suomalainen A, Majander A, Wallin M, Setälä K, Kontula K, Leinonen H, et al. Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 1997; 48: 1244-53.
-
(1997)
Neurology
, vol.48
, pp. 1244-1253
-
-
Suomalainen, A.1
Majander, A.2
Wallin, M.3
Setälä, K.4
Kontula, K.5
Leinonen, H.6
-
181
-
-
19144363053
-
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p
-
Kaukonen JA, Amati P, Suomalinen A, Rötig A, Piscagua M-G, Salvi F, et al. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 1996; 58: 763-9.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 763-769
-
-
Kaukonen, J.A.1
Amati, P.2
Suomalinen, A.3
Rötig, A.4
Piscagua, M.-G.5
Salvi, F.6
-
182
-
-
0033365348
-
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophtalmoplegia
-
Kaukonen J, Zeviani N, Comi GP, Piscaglia MG, Peltonen L, Suomalainen A. A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophtalmoplegia. Am J Hum Genet 1999; 65: 256-61.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 256-261
-
-
Kaukonen, J.1
Zeviani, N.2
Comi, G.P.3
Piscaglia, M.G.4
Peltonen, L.5
Suomalainen, A.6
-
183
-
-
0029996721
-
Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
-
Bohlega S, Tanji K, Santorelli FM, Hirano M, Al-Jishi A, DiMauro S. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996; 46: 1329-34.
-
(1996)
Neurology
, vol.46
, pp. 1329-1334
-
-
Bohlega, S.1
Tanji, K.2
Santorelli, F.M.3
Hirano, M.4
Al-Jishi, A.5
DiMauro, S.6
-
184
-
-
0028301915
-
Mitochondrial neurogastrointestinal encephalomyopathy (MNG-IE): Clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder
-
Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNG-IE): clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994; 44: 721-7.
-
(1994)
Neurology
, vol.44
, pp. 721-727
-
-
Hirano, M.1
Silvestri, G.2
Blake, D.M.3
Lombes, A.4
Minetti, C.5
Bonilla, E.6
-
185
-
-
0032231702
-
Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter
-
Hirano M, García-de-Yebenes J, Jones AC, Nishino I, DiMauro S, et al. Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. Am J Hum Genet 1998; 63: 526-33.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 526-533
-
-
Hirano, M.1
García-de-Yebenes, J.2
Jones, A.C.3
Nishino, I.4
DiMauro, S.5
-
186
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE: A human mitochondrial disorder
-
Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE: a human mitochondrial disorder. Science 1999; 283: 689-92.
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
187
-
-
8944243541
-
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients
-
Santorelli FM, Sciacco M, Tanji K, Shanske S, Vu TH, Golzi V, et al. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients. Ann Neurol 1996; 39: 789-95.
-
(1996)
Ann Neurol
, vol.39
, pp. 789-795
-
-
Santorelli, F.M.1
Sciacco, M.2
Tanji, K.3
Shanske, S.4
Vu, T.H.5
Golzi, V.6
-
188
-
-
0028109484
-
Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother
-
Casademont J, Barrientos A, Cardellach F, Cardellach A, Rötig JM, Grau J, et al. Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. Hum Mol Genet 1994; 3: 1945-9.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1945-1949
-
-
Casademont, J.1
Barrientos, A.2
Cardellach, F.3
Cardellach, A.4
Rötig, J.M.5
Grau, J.6
-
189
-
-
0030051689
-
Familial cardiomyopathy with cataracts and lactic acidosis: A defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain
-
Pitkänen S, Merante F, McLeod R, Applegarth D, Tong T, Robinson BH. Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain. Pediatr Res 1996; 39: 513-21.
-
(1996)
Pediatr Res
, vol.39
, pp. 513-521
-
-
Pitkänen, S.1
Merante, F.2
McLeod, R.3
Applegarth, D.4
Tong, T.5
Robinson, B.H.6
-
190
-
-
0026463567
-
Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA
-
Suomalainen A, Pateau A, Leinonen H, Majander A, Peltonen L, Somer H. Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. Lancet 1992; 340: 1319-20.
-
(1992)
Lancet
, vol.340
, pp. 1319-1320
-
-
Suomalainen, A.1
Pateau, A.2
Leinonen, H.3
Majander, A.4
Peltonen, L.5
Somer, H.6
-
191
-
-
13344260008
-
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA delections in families with Wolfram's syndrome
-
Barrientos A, Volpini V, Casademont J, Genis D, Manzanares JM, Ferrer I, et al. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA delections in families with Wolfram's syndrome. J Clin Invest 1996; 97: 1570-6.
-
(1996)
J Clin Invest
, vol.97
, pp. 1570-1576
-
-
Barrientos, A.1
Volpini, V.2
Casademont, J.3
Genis, D.4
Manzanares, J.M.5
Ferrer, I.6
-
192
-
-
0026015896
-
MtDNA depletion with variable tissue expression. A novel genetic abnormality in mitochondrial diseases
-
Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, et al. MtDNA depletion with variable tissue expression. 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
Aprille, J.R.4
Andreetta, F.5
-
193
-
-
0026480006
-
Fatal infantile liver failure associated with mitochondrial DNA depletion
-
Mazziotta MR, Ricci E, Bertini E, Dionisi C, Servidei S, Burlina AB, et al. Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 1992; 121: 896-901.
-
(1992)
J Pediatr
, vol.121
, pp. 896-901
-
-
Mazziotta, M.R.1
Ricci, E.2
Bertini, E.3
Dionisi, C.4
Servidei, S.5
Burlina, A.B.6
-
194
-
-
0029980584
-
Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia
-
Maaswinkel-Mooij PD, van den Bogert V, Scholte HR, Onkenhout W, Brederoo P, Poorthuis BJHM. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr 1996; 128: 679-83.
-
(1996)
J Pediatr
, vol.128
, pp. 679-683
-
-
Maaswinkel-Mooij, P.D.1
Van Den Bogert, V.2
Scholte, H.R.3
Onkenhout, W.4
Brederoo, P.5
Poorthuis, B.J.H.M.6
-
195
-
-
0029869935
-
Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease
-
Bakker HD, Scholte HR, Dingemans KP, Spelbrink JN, Wijburg FA, van den Bogert C. Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr 1996; 128: 683-7.
-
(1996)
J Pediatr
, vol.128
, pp. 683-687
-
-
Bakker, H.D.1
Scholte, H.R.2
Dingemans, K.P.3
Spelbrink, J.N.4
Wijburg, F.A.5
Van Den Bogert, C.6
-
196
-
-
0030249589
-
Mitochondrial myopathy simulating spinal muscular atrophy
-
Pons R, Andreetta F, Wang CH, Vu TH, Bonilla E, DiMauro S, et al. Mitochondrial myopathy simulating spinal muscular atrophy. Pediatr Neurol 1996; 15: 153-8.
-
(1996)
Pediatr Neurol
, vol.15
, pp. 153-158
-
-
Pons, R.1
Andreetta, F.2
Wang, C.H.3
Vu, T.H.4
Bonilla, E.5
DiMauro, S.6
-
197
-
-
0027412725
-
Miopatía mitocondrial por déficit de los complejos III y IV. Una observación familiar
-
Castro-Gago M, Novo-Rodríguez I, García Caballero T, Campos Y, Huertas R, Arenas J. Miopatía mitocondrial por déficit de los complejos III y IV. Una observación familiar. An Esp Pediatr 1993; 38: 82-6.
-
(1993)
An Esp Pediatr
, vol.38
, pp. 82-86
-
-
Castro-Gago, M.1
Novo-Rodríguez, I.2
García Caballero, T.3
Campos, Y.4
Huertas, R.5
Arenas, J.6
-
198
-
-
0030340147
-
Depleción del ADN mitocondrial en miopatía mitocondrial por déficit de los complejos III y IV de la cadena respiratoria
-
Arenas J, Campos Y, Castro-Gago M. Depleción del ADN mitocondrial en miopatía mitocondrial por déficit de los complejos III y IV de la cadena respiratoria. An Esp Pediatr 1996; 45: 656-7.
-
(1996)
An Esp Pediatr
, vol.45
, pp. 656-657
-
-
Arenas, J.1
Campos, Y.2
Castro-Gago, M.3
-
199
-
-
54849420921
-
-
Roma: 6ème Congrès de la Société Européenne de Neurologie Pédiatrique;
-
Castro-Gago M, Eirís J, Novo Rodríguez MaI, Campos Y, Arenas J. Forme familière de myopathie mitochondriale avec depletion de l'ADNmt. Roma: 6ème Congrès de la Société Européenne de Neurologie Pédiatrique; 1997. p. 37.
-
(1997)
Forme Familière de Myopathie Mitochondriale Avec Depletion de l'ADNmt
, pp. 37
-
-
Castro-Gago, M.1
Eirís, J.2
Novo Rodríguez, Ma.I.3
Campos, Y.4
Arenas, J.5
-
200
-
-
0031747955
-
Clinical manifestations of mitochondrial DNA depletion
-
Vu TH, Sciacco M, Tanji K, Nichter C, Bonilla E, Chatkupt S, 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
Nichter, C.4
Bonilla, E.5
Chatkupt, S.6
-
201
-
-
0032477340
-
Clinical heterogeneity associated with mitochondrial DNA depletion in muscle
-
Campos Y, Martín MA, García-Silva T, del Hoyo P, Rubio JC, Castro-Gago M, et al. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle. Neuromuscul Disord 1998; 8: 568-73.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 568-573
-
-
Campos, Y.1
Martín, M.A.2
García-Silva, T.3
Del Hoyo, P.4
Rubio, J.C.5
Castro-Gago, M.6
-
202
-
-
0031265842
-
Severe myoclonic epilepsy and mitochondrial cytopathy
-
Castro-Gago M, Martinón-Sánchez JM, Rodríguez-Núñez A, Herranz JL, Eirís-Puñal J. Severe myoclonic epilepsy and mitochondrial cytopathy. Childs Nerv Syst 1997; 13: 570-1.
-
(1997)
Childs Nerv Syst
, vol.13
, pp. 570-571
-
-
Castro-Gago, M.1
Martinón-Sánchez, J.M.2
Rodríguez-Núñez, A.3
Herranz, J.L.4
Eirís-Puñal, J.5
-
203
-
-
0032900339
-
Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome
-
Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, et al. Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol 1999; 45: 54-8.
-
(1999)
Ann Neurol
, vol.45
, pp. 54-58
-
-
Naviaux, R.K.1
Nyhan, W.L.2
Barshop, B.A.3
Poulton, J.4
Markusic, D.5
Karpinski, N.C.6
-
204
-
-
0028223609
-
Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion
-
Larsson NG, Oldfors A, Holme E, Clayton DA. Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion. Biochem Biophys Res Commun 1994; 200: 1347-81.
-
(1994)
Biochem Biophys Res Commun
, vol.200
, pp. 1347-1381
-
-
Larsson, N.G.1
Oldfors, A.2
Holme, E.3
Clayton, D.A.4
-
205
-
-
0344731064
-
Hair and skin disorders as signs of mitochondrial disease
-
Bodemer C, Rötig A, Rustin P, Cormier V, Niaudet P, Saudubray J-M, et al. Hair and skin disorders as signs of mitochondrial disease. Pediatrics 1999; 103: 428-33.
-
(1999)
Pediatrics
, vol.103
, pp. 428-433
-
-
Bodemer, C.1
Rötig, A.2
Rustin, P.3
Cormier, V.4
Niaudet, P.5
Saudubray, J.-M.6
-
206
-
-
0023717111
-
Disorders of the mitochondrial respiratory chain: Clinical manifestations and diagnostic approach
-
Trijbels JMF, Sengers RCA, Ruitenbeck W, Fischer JC, Bakkeren JM, Janssen AJM. Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach. Eur J Pediatr 1988; 148: 92-7.
-
(1988)
Eur J Pediatr
, vol.148
, pp. 92-97
-
-
Trijbels, J.M.F.1
Sengers, R.C.A.2
Ruitenbeck, W.3
Fischer, J.C.4
Bakkeren, J.M.5
Janssen, A.J.M.6
-
207
-
-
0025807180
-
Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations
-
Tulinius MH, Holme E, Kristiansson B, Larsson N-G, Olfors A. Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations. J Pediatr 1991; 119: 242-50.
-
(1991)
J Pediatr
, vol.119
, pp. 242-250
-
-
Tulinius, M.H.1
Holme, E.2
Kristiansson, B.3
Larsson, N.-G.4
Olfors, A.5
-
208
-
-
0027314420
-
Approach to diagnosis of oxidative metabolism disorders
-
Breningstall GN. Approach to diagnosis of oxidative metabolism disorders. Pediatr Neurol 1993; 9: 81-90.
-
(1993)
Pediatr Neurol
, vol.9
, pp. 81-90
-
-
Breningstall, G.N.1
-
210
-
-
0030254466
-
Déficit de piruvato deshidrogenasa y malformaciones cerebrales
-
Eirís J, Álvarez-Moreno A, Briones P, Alonso-Alonso C, Castro-Gago M. Déficit de piruvato deshidrogenasa y malformaciones cerebrales. Rev Neurol 1996; 24: 1272-5.
-
(1996)
Rev Neurol
, vol.24
, pp. 1272-1275
-
-
Eirís, J.1
Álvarez-Moreno, A.2
Briones, P.3
Alonso-Alonso, C.4
Castro-Gago, M.5
-
211
-
-
0030670573
-
Clinical features, investigations, and management of patients with defects of mitochondrial DNA
-
Chinnery PF, Turbull DM. Clinical features, investigations, and management of patients with defects of mitochondrial DNA. J Neurol Neurosurg Psychiatry 1997; 63: 559-63.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.63
, pp. 559-563
-
-
Chinnery, P.F.1
Turbull, D.M.2
-
212
-
-
0031944137
-
Near-infrared spectroscopy in the diagnosis of the mitochondrial disorders
-
Bank W, Park J, Lech G, Chance B. Near-infrared spectroscopy in the diagnosis of the mitochondrial disorders. Biofactors 1998; 7: 243-5.
-
(1998)
Biofactors
, vol.7
, pp. 243-245
-
-
Bank, W.1
Park, J.2
Lech, G.3
Chance, B.4
-
213
-
-
0031709072
-
Tratamiento de las enfermedades mitocondriales
-
Muñoz A, Bautista J. Tratamiento de las enfermedades mitocondriales. Rev Neurol 1998; 26 (Supl 1): S87-91.
-
(1998)
Rev Neurol
, vol.26
, Issue.1 SUPPL.
-
-
Muñoz, A.1
Bautista, J.2
-
214
-
-
0002560834
-
Mitochondrial myopathies: Clinical features, investigation, treatment and genetic counselling
-
Schapira AHV, DiMauro S, eds. Oxford: Butterworth-Heinemann
-
Hammans SR, Morgan-Hughes JA. Mitochondrial myopathies: clinical features, investigation, treatment and genetic counselling. In Schapira AHV, DiMauro S, eds. Mitochondrial disorders in neurology. Oxford: Butterworth-Heinemann; 1994. p. 49-74.
-
(1994)
Mitochondrial Disorders in Neurology
, pp. 49-74
-
-
Hammans, S.R.1
Morgan-Hughes, J.A.2
-
215
-
-
24644511743
-
Deficiencia de carnitina asociada a hiperamoniemia en niños a tratamiento con ácido valproico
-
Castro-Gago M, Otero S, Novo I, Rodrigo E, Rozas I, Rodríguez-Segade S. Deficiencia de carnitina asociada a hiperamoniemia en niños a tratamiento con ácido valproico. Rev Esp Epilepsia 1988; 3: 169-72.
-
(1988)
Rev Esp Epilepsia
, vol.3
, pp. 169-172
-
-
Castro-Gago, M.1
Otero, S.2
Novo, I.3
Rodrigo, E.4
Rozas, I.5
Rodríguez-Segade, S.6
-
216
-
-
0025122205
-
Effects of acute valproate administration on carnitine metabolism in mouse serum and tissues
-
Rozas I, Camiña F, Paz JM, Alonso C, Castro-Gago M, Rodríguez-Segade S. Effects of acute valproate administration on carnitine metabolism in mouse serum and tissues. Biochem Pharmacol 1990; 39: 181-5.
-
(1990)
Biochem Pharmacol
, vol.39
, pp. 181-185
-
-
Rozas, I.1
Camiña, F.2
Paz, J.M.3
Alonso, C.4
Castro-Gago, M.5
Rodríguez-Segade, S.6
-
217
-
-
0025124082
-
Effects of valproic acid on the urea cycle and carnitine metabolism
-
Castro-Gago M, Novo I, Rodríguez-Segade S. Effects of valproic acid on the urea cycle and carnitine metabolism. Int Pediatr 1990; 5: 54-7.
-
(1990)
Int Pediatr
, vol.5
, pp. 54-57
-
-
Castro-Gago, M.1
Novo, I.2
Rodríguez-Segade, S.3
-
218
-
-
12644281177
-
Repercusión de la administración aguda de ácido valproico sobre el metabolismo de la carnitina y del amonio sanguíneo
-
Castro-Gago M, Rodrigo E, Marwan K, Novo I, Graña MI, Camiña F, et al. Repercusión de la administración aguda de ácido valproico sobre el metabolismo de la carnitina y del amonio sanguíneo. Rev Esp Epilepsia 1990; 5: 86-90.
-
(1990)
Rev Esp Epilepsia
, vol.5
, pp. 86-90
-
-
Castro-Gago, M.1
Rodrigo, E.2
Marwan, K.3
Novo, I.4
Graña, M.I.5
Camiña, F.6
-
219
-
-
0025668101
-
Hyperamino-acidemia in epileptic children treated with valproic acid
-
Castro-Gago M, Rodrigo E, Novo I, Camiña F, Rodríguez-Segade S. Hyperamino-acidemia in epileptic children treated with valproic acid. Childs Nerv Syst 1990; 6: 434-6.
-
(1990)
Childs Nerv Syst
, vol.6
, pp. 434-436
-
-
Castro-Gago, M.1
Rodrigo, E.2
Novo, I.3
Camiña, F.4
Rodríguez-Segade, S.5
-
220
-
-
0026072181
-
Alteration of renal carnitine metabolism by anticonvulsant
-
Camiña F, Rozas I, Castro-Gago M, Paz JM, Alonso C, Rodríguez-Segade S. Alteration of renal carnitine metabolism by anticonvulsant. Neurology 1991; 41: 1444-8.
-
(1991)
Neurology
, vol.41
, pp. 1444-1448
-
-
Camiña, F.1
Rozas, I.2
Castro-Gago, M.3
Paz, J.M.4
Alonso, C.5
Rodríguez-Segade, S.6
-
221
-
-
24644506733
-
Estudio clínico-experimental sobre la repercusión del ácido valproico a nivel del metabolismo de la carnitina y del ciclo de la urea
-
Barcelona: Ancora
-
Rodrigo Sáez E, Novo Rodríguez I, Castro-Gago M, Rodríguez-Segade S, Camiña F. Estudio clínico-experimental sobre la repercusión del ácido valproico a nivel del metabolismo de la carnitina y del ciclo de la urea. Libro Premios Nutrición Infantil. Barcelona: Ancora; 1992. p. 151-97.
-
(1992)
Libro Premios Nutrición Infantil
, pp. 151-197
-
-
Rodrigo Sáez, E.1
Novo Rodríguez, I.2
Castro-Gago, M.3
Rodríguez-Segade, S.4
Camiña, F.5
-
223
-
-
24644522916
-
Efecto de los fármacos anticomiciales sobre el metabolismo renal de la carnitina
-
Castro-Gago M, Bernabeu FA, Novo I, Camiña F, Eirís J, Rodríguez-Segade S. Efecto de los fármacos anticomiciales sobre el metabolismo renal de la carnitina. Rev Neurol 1994; 22: 646-50.
-
(1994)
Rev Neurol
, vol.22
, pp. 646-650
-
-
Castro-Gago, M.1
Bernabeu, F.A.2
Novo, I.3
Camiña, F.4
Eirís, J.5
Rodríguez-Segade, S.6
-
224
-
-
0032417734
-
Serum carnitine levels in epileptic children before and during treatment with valproic acid, carbamazepine and phenobarbital
-
Castro-Gago M, Eirís-Puñal J, Novo-Rodríguez MaI, Couceiro J, Camiña F, Rodríguez-Segade S. Serum carnitine levels in epileptic children before and during treatment with valproic acid, carbamazepine and phenobarbital. J Child Neurol 1998; 13: 546-9.
-
(1998)
J Child Neurol
, vol.13
, pp. 546-549
-
-
Castro-Gago, M.1
Eirís-Puñal, J.2
Novo-Rodríguez, Ma.I.3
Couceiro, J.4
Camiña, F.5
Rodríguez-Segade, S.6
-
225
-
-
0031923078
-
Effects of aerobic training in patients with mitochondrial myopathies
-
Taivassalo T, De Stefano N, Argov Z, Matthews PM, Chen J, Genge A, et al. Effects of aerobic training in patients with mitochondrial myopathies. Neurology 1998; 50: 1055-60.
-
(1998)
Neurology
, vol.50
, pp. 1055-1060
-
-
Taivassalo, T.1
De Stefano, N.2
Argov, Z.3
Matthews, P.M.4
Chen, J.5
Genge, A.6
-
226
-
-
0026635309
-
Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: Results of treatment with a ketogenic diet
-
Wijburg FA, Barth PG, Bindoff LA, Birch-Machin MA, van-der-Blij JF, Ruitenbeek W, et al. Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet. Neuropediatrics 1992; 23: 147-52.
-
(1992)
Neuropediatrics
, vol.23
, pp. 147-152
-
-
Wijburg, F.A.1
Barth, P.G.2
Bindoff, L.A.3
Birch-Machin, M.A.4
Van-der-Blij, J.F.5
Ruitenbeek, W.6
-
227
-
-
0030832257
-
Growth hormone therapy may benefit protein metabolism in mitochondrial encephalomyopathy
-
Oxf
-
Carroll PV, Umpleby AM, Albany E, Jackson NC, Morgan-Hughes JA, Sonksen PH, et al. Growth hormone therapy may benefit protein metabolism in mitochondrial encephalomyopathy. Clin Endocrinol (Oxf) 1997; 47: 113-7.
-
(1997)
Clin Endocrinol
, vol.47
, pp. 113-117
-
-
Carroll, P.V.1
Umpleby, A.M.2
Albany, E.3
Jackson, N.C.4
Morgan-Hughes, J.A.5
Sonksen, P.H.6
-
228
-
-
0024588378
-
Indications for pacemaker implantation in the Kearns-Sayre syndrome
-
Polak PE, Zijlstra F, Roelandt JR. Indications for pacemaker implantation in the Kearns-Sayre syndrome. Eur Heart J 1989; 10: 281-2.
-
(1989)
Eur Heart J
, vol.10
, pp. 281-282
-
-
Polak, P.E.1
Zijlstra, F.2
Roelandt, J.R.3
-
229
-
-
0027405566
-
Exercise responses after cardiac transplantation in mitochondrial myopathy
-
Bussieres LM, Pflugfelder PW, Guiraudon C, Brown WF, Muñoz DG, Taylor AW, et al. Exercise responses after cardiac transplantation in mitochondrial myopathy. Am J Cardiol 1993; 71: 1003-6.
-
(1993)
Am J Cardiol
, vol.71
, pp. 1003-1006
-
-
Bussieres, L.M.1
Pflugfelder, P.W.2
Guiraudon, C.3
Brown, W.F.4
Muñoz, D.G.5
Taylor, A.W.6
-
230
-
-
0001337535
-
Treatment of mitochondrial diseases
-
DiMauro S, Wallace DC, eds. New York: Raven Press
-
Calvani M, Koverech A, Caruso G. Treatment of mitochondrial diseases. In DiMauro S, Wallace DC, eds. Mitochondrial DNA in human pathology. New York: Raven Press; 1993. p. 173-97.
-
(1993)
Mitochondrial DNA in Human Pathology.
, pp. 173-197
-
-
Calvani, M.1
Koverech, A.2
Caruso, G.3
-
231
-
-
24644440592
-
Aspectos terapéuticos actuales de las enfermedades mitocondriales
-
Castro-Gago M, Novo Rodríguez MaI, Eirís Puñal J. Aspectos terapéuticos actuales de las enfermedades mitocondriales. An Esp Pediatr 1996; 83 (Supl): 297-301.
-
(1996)
An Esp Pediatr
, vol.83
, Issue.SUPPL.
, pp. 297-301
-
-
Castro-Gago, M.1
Novo Rodríguez, Ma.I.2
Eirís Puñal, J.3
-
233
-
-
0031690665
-
Tratamiento de las enfermedades mitocondriales durante la infancia y adolescencia
-
Castro-Gago M, Novo-Rodríguez MaI, Eirís-Puñal J. Tratamiento de las enfermedades mitocondriales durante la infancia y adolescencia. Rev Neurol 1998; 26 (Supl 1): S92-8.
-
(1998)
Rev Neurol
, vol.26
, Issue.1 SUPPL.
-
-
Castro-Gago, M.1
Novo-Rodríguez, Ma.I.2
Eirís-Puñal, J.3
-
234
-
-
0031441642
-
Clinical and radiologic improvement in mitochondrial encephalomyopathy following sodium dichloroacetate therapy
-
Kimura S, Ohtuki N, Nazu A, Tanaka M, Takeshita S. Clinical and radiologic improvement in mitochondrial encephalomyopathy following sodium dichloroacetate therapy. Brain Dev 1997; 19: 535-40.
-
(1997)
Brain Dev
, vol.19
, pp. 535-540
-
-
Kimura, S.1
Ohtuki, N.2
Nazu, A.3
Tanaka, M.4
Takeshita, S.5
-
237
-
-
24644505854
-
Effects of allopurinol on erythrocyte membrane and purine metabolism in Duchenne muscular dystrophy
-
Castro-Gago M, Rodríguez-Segade S, Beiras A, Novo I, Pombo M. Effects of allopurinol on erythrocyte membrane and purine metabolism in Duchenne muscular dystrophy. Clin Chem News 1987; 12: 52-6.
-
(1987)
Clin Chem News
, vol.12
, pp. 52-56
-
-
Castro-Gago, M.1
Rodríguez-Segade, S.2
Beiras, A.3
Novo, I.4
Pombo, M.5
-
238
-
-
0023200121
-
Effects of chronic allopurinol therapy on purine metabolism in Duchenne muscular dystrophy
-
Castro-Gago M, Lojo S, Novo I, Del Río R, Peña J, Rodríguez-Segade S. Effects of chronic allopurinol therapy on purine metabolism in Duchenne muscular dystrophy. Biochem Biophys Res Commun 1987; 147: 152-7.
-
(1987)
Biochem Biophys Res Commun
, vol.147
, pp. 152-157
-
-
Castro-Gago, M.1
Lojo, S.2
Novo, I.3
Del Río, R.4
Peña, J.5
Rodríguez-Segade, S.6
-
239
-
-
0029584850
-
Purine and carnitine metabolism in muscle of patients with Duchenne muscular dystrophy
-
Erratum: 1996; 252: 105
-
Camiña F, Novo-Rodríguez MaI, Rodríguez-Segade S, Castro-Gago M. Purine and carnitine metabolism in muscle of patients with Duchenne muscular dystrophy. Clin Chim Acta 1995; 243: 151-64. (Erratum: 1996; 252: 105).
-
(1995)
Clin Chim Acta
, vol.243
, pp. 151-164
-
-
Camiña, F.1
Novo-Rodríguez, Ma.I.2
Rodríguez-Segade, S.3
Castro-Gago, M.4
-
240
-
-
0028314016
-
Long-term effects of xanthine-oxidase inhibitor (allopurinol) in Duchenne muscular dystrophy
-
Castro-Gago M, Eirís-Puñal J, Rodríguez-Nuñez A, Camiña-Darriba F, Rodríguez-Segade S, Novo-Rodríguez I. Long-term effects of xanthine-oxidase inhibitor (allopurinol) in Duchenne muscular dystrophy. Int Pediatr 1994; 9: 15-20.
-
(1994)
Int Pediatr
, vol.9
, pp. 15-20
-
-
Castro-Gago, M.1
Eirís-Puñal, J.2
Rodríguez-Nuñez, A.3
Camiña-Darriba, F.4
Rodríguez-Segade, S.5
Novo-Rodríguez, I.6
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