-
1
-
-
58149159261
-
Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses
-
Gibson K., Halliday J.L., Kirby D.M., Yaplito-Lee J., Thorburn D.R., Boneh A. Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. Pediatrics 2008, 122:1003-1008.
-
(2008)
Pediatrics
, vol.122
, pp. 1003-1008
-
-
Gibson, K.1
Halliday, J.L.2
Kirby, D.M.3
Yaplito-Lee, J.4
Thorburn, D.R.5
Boneh, A.6
-
2
-
-
33644673844
-
Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients
-
Garcia-Cazorla A., De Lonlay P., Nassogne M.C., Rustin P., Touati G., Saudubray J.M. Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients. Pediatrics 2005, 116:1170-1177.
-
(2005)
Pediatrics
, vol.116
, pp. 1170-1177
-
-
Garcia-Cazorla, A.1
De Lonlay, P.2
Nassogne, M.C.3
Rustin, P.4
Touati, G.5
Saudubray, J.M.6
-
3
-
-
33748162727
-
Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients
-
Garcia-Cazorla A., De Lonlay P., Rustin P., et al. Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients. J Pediatr 2006, 149:401-405.
-
(2006)
J Pediatr
, vol.149
, pp. 401-405
-
-
Garcia-Cazorla, A.1
De Lonlay, P.2
Rustin, P.3
-
4
-
-
34249792393
-
Role of mitochondria in non-alcoholic fatty liver disease
-
Pessayre D. Role of mitochondria in non-alcoholic fatty liver disease. J Gastroenterol Hepatol 2007, 22(Suppl. 1):S20-S27.
-
(2007)
J Gastroenterol Hepatol
, vol.22
, Issue.SUPPL. 1
-
-
Pessayre, D.1
-
5
-
-
34250302680
-
Mitochondrial hepatopathies: advances in genetics and pathogenesis
-
Lee W.S., Sokol R.J. Mitochondrial hepatopathies: advances in genetics and pathogenesis. Hepatology 2007, 45:1555-1565.
-
(2007)
Hepatology
, vol.45
, pp. 1555-1565
-
-
Lee, W.S.1
Sokol, R.J.2
-
6
-
-
46349103594
-
A mitochondrial protein compendium elucidates complex I disease biology
-
Pagliarini D.J., Calvo S.E., Chang B., et al. A mitochondrial protein compendium elucidates complex I disease biology. Cell 2008, 134:112-123.
-
(2008)
Cell
, vol.134
, pp. 112-123
-
-
Pagliarini, D.J.1
Calvo, S.E.2
Chang, B.3
-
7
-
-
41949098832
-
The in-depth evaluation of suspected mitochondrial disease
-
Haas R.H., Parikh S., Falk M.J., et al. The in-depth evaluation of suspected mitochondrial disease. Molec Genet Metab 2008, 94:16-37.
-
(2008)
Molec Genet Metab
, vol.94
, pp. 16-37
-
-
Haas, R.H.1
Parikh, S.2
Falk, M.J.3
-
8
-
-
77951974136
-
Current molecular diagnostic algorithm for mitochondrial disorders
-
Wong L.J., Scaglia F., Graham B.H., Craigen W.J. Current molecular diagnostic algorithm for mitochondrial disorders. Mol Genet Metab 2010, 100:111-117.
-
(2010)
Mol Genet Metab
, vol.100
, pp. 111-117
-
-
Wong, L.J.1
Scaglia, F.2
Graham, B.H.3
Craigen, W.J.4
-
9
-
-
77957560919
-
Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening
-
Spiekerkoetter U. Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening. J Inherit Metab Dis 2010, 33:527-532.
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 527-532
-
-
Spiekerkoetter, U.1
-
10
-
-
51349111824
-
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
-
Summar M.L., Dobbelaere D., Brusilow S., Lee B. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr 2008, 97:1420-1425.
-
(2008)
Acta Paediatr
, vol.97
, pp. 1420-1425
-
-
Summar, M.L.1
Dobbelaere, D.2
Brusilow, S.3
Lee, B.4
-
11
-
-
79952702137
-
Drug-induced toxicity on mitochondria and lipid metabolism: mechanistic diversity and deleterious consequences for the liver
-
Begriche K., Massart J., Robin M.A., Borgne-Sanchez A., Fromenty B. Drug-induced toxicity on mitochondria and lipid metabolism: mechanistic diversity and deleterious consequences for the liver. J Hepatol 2011, 54:773-794.
-
(2011)
J Hepatol
, vol.54
, pp. 773-794
-
-
Begriche, K.1
Massart, J.2
Robin, M.A.3
Borgne-Sanchez, A.4
Fromenty, B.5
-
12
-
-
70149083472
-
A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene
-
Fragaki K., Procaccio V., Bannwarth S., et al. A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene. Mitochondrion 2009, 9:346-352.
-
(2009)
Mitochondrion
, vol.9
, pp. 346-352
-
-
Fragaki, K.1
Procaccio, V.2
Bannwarth, S.3
-
13
-
-
70350697393
-
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
-
Horvath R., Kemp J.P., Tuppen H.A., et al. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain 2009, 132:3165-3174.
-
(2009)
Brain
, vol.132
, pp. 3165-3174
-
-
Horvath, R.1
Kemp, J.P.2
Tuppen, H.A.3
-
14
-
-
0026492033
-
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects
-
Gibson K.M., Bennett M.J., Mize C.E., et al. 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr 1992, 121:940-942.
-
(1992)
J Pediatr
, vol.121
, pp. 940-942
-
-
Gibson, K.M.1
Bennett, M.J.2
Mize, C.E.3
-
15
-
-
77954371509
-
Quantitative evaluation of the mitochondrial DNA depletion syndrome
-
Dimmock D., Tang L.Y., Schmitt E.S., Wong L.J. Quantitative evaluation of the mitochondrial DNA depletion syndrome. Clin Chem 2010, 56:1119-1127.
-
(2010)
Clin Chem
, vol.56
, pp. 1119-1127
-
-
Dimmock, D.1
Tang, L.Y.2
Schmitt, E.S.3
Wong, L.J.4
-
16
-
-
77955536061
-
Clinical manifestations in children with mitochondrial diseases
-
Chi C.S., Lee H.F., Tsai C.R., Lee H.J., Chen L.H. Clinical manifestations in children with mitochondrial diseases. Pediatr Neurol 2010, 43:183-189.
-
(2010)
Pediatr Neurol
, vol.43
, pp. 183-189
-
-
Chi, C.S.1
Lee, H.F.2
Tsai, C.R.3
Lee, H.J.4
Chen, L.H.5
-
17
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
Mandel H., Szargel R., Labay V., et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001, 29:337-341.
-
(2001)
Nat Genet
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
-
18
-
-
21844449982
-
Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency
-
Labarthe F., Dobbelaere D., Devisme L., et al. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. J Hepatol 2005, 43:333-341.
-
(2005)
J Hepatol
, vol.43
, pp. 333-341
-
-
Labarthe, F.1
Dobbelaere, D.2
Devisme, L.3
-
19
-
-
79953701106
-
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure
-
Pronicka E., Weglewska-Jurkiewicz A., Taybert J., et al. Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure. J Appl Genet 2011, 52:61-66.
-
(2011)
J Appl Genet
, vol.52
, pp. 61-66
-
-
Pronicka, E.1
Weglewska-Jurkiewicz, A.2
Taybert, J.3
-
20
-
-
33646376465
-
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
-
Spinazzola A., Viscomi C., Fernandez-Vizarra E., et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006, 38:570-575.
-
(2006)
Nat Genet
, vol.38
, pp. 570-575
-
-
Spinazzola, A.1
Viscomi, C.2
Fernandez-Vizarra, E.3
-
21
-
-
36348966712
-
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
-
Wong L.J., Brunetti-Pierri N., Zhang Q., et al. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology 2007, 46:1218-1227.
-
(2007)
Hepatology
, vol.46
, pp. 1218-1227
-
-
Wong, L.J.1
Brunetti-Pierri, N.2
Zhang, Q.3
-
22
-
-
77955151559
-
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy
-
Van Hove J.L., Saenz M.S., Thomas J.A., et al. Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. Pediatr Res 2010, 68:159-164.
-
(2010)
Pediatr Res
, vol.68
, pp. 159-164
-
-
Van Hove, J.L.1
Saenz, M.S.2
Thomas, J.A.3
-
23
-
-
57849140614
-
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
-
Wong L.J., Naviaux R.K., Brunetti-Pierri N., et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 2008, 29:E150-E172.
-
(2008)
Hum Mutat
, vol.29
-
-
Wong, L.J.1
Naviaux, R.K.2
Brunetti-Pierri, N.3
-
24
-
-
37849003416
-
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
-
Sarzi E., Goffart S., Serre V., et al. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 2007, 62:579-587.
-
(2007)
Ann Neurol
, vol.62
, pp. 579-587
-
-
Sarzi, E.1
Goffart, S.2
Serre, V.3
-
25
-
-
35649024143
-
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
-
Hakonen A.H., Isohanni P., Paetau A., Herva R., Suomalainen A., Lonnqvist T. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007, 130:3032-3040.
-
(2007)
Brain
, vol.130
, pp. 3032-3040
-
-
Hakonen, A.H.1
Isohanni, P.2
Paetau, A.3
Herva, R.4
Suomalainen, A.5
Lonnqvist, T.6
-
27
-
-
0026702012
-
BCS1, a novel gene required for the expression of functional Rieske iron-sulfur protein in Saccharomyces cerevisiae
-
Nobrega F.G., Nobrega M.P., Tzagoloff A. BCS1, a novel gene required for the expression of functional Rieske iron-sulfur protein in Saccharomyces cerevisiae. EMBO J 1992, 11:3821-3829.
-
(1992)
EMBO J
, vol.11
, pp. 3821-3829
-
-
Nobrega, F.G.1
Nobrega, M.P.2
Tzagoloff, A.3
-
28
-
-
64049084434
-
Functional analysis of yeast bcs1 mutants highlights the role of Bcs1p-specific amino acids in the AAA domain
-
Nouet C., Truan G., Mathieu L., Dujardin G. Functional analysis of yeast bcs1 mutants highlights the role of Bcs1p-specific amino acids in the AAA domain. J Molec Biol 2009, 388:252-261.
-
(2009)
J Molec Biol
, vol.388
, pp. 252-261
-
-
Nouet, C.1
Truan, G.2
Mathieu, L.3
Dujardin, G.4
-
29
-
-
24144493814
-
Mitochondrial complex III is required for hypoxia-induced ROS production and cellular oxygen sensing
-
Guzy R.D., Hoyos B., Robin E., et al. Mitochondrial complex III is required for hypoxia-induced ROS production and cellular oxygen sensing. Cell Metab 2005, 1:401-408.
-
(2005)
Cell Metab
, vol.1
, pp. 401-408
-
-
Guzy, R.D.1
Hoyos, B.2
Robin, E.3
-
30
-
-
17944381521
-
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
-
de Lonlay P., Valnot I., Barrientos A., et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 2001, 29:57-60.
-
(2001)
Nat Genet
, vol.29
, pp. 57-60
-
-
de Lonlay, P.1
Valnot, I.2
Barrientos, A.3
-
31
-
-
19044365959
-
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
-
Visapaa I., Fellman V., Vesa J., et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 2002, 71:863-876.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 863-876
-
-
Visapaa, I.1
Fellman, V.2
Vesa, J.3
-
32
-
-
10744225420
-
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene
-
De Meirleir L., Seneca S., Damis E., et al. Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. Am J Med Genet A 2003, 121:126-131.
-
(2003)
Am J Med Genet A
, vol.121
, pp. 126-131
-
-
De Meirleir, L.1
Seneca, S.2
Damis, E.3
-
33
-
-
34447336126
-
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy
-
Fernandez-Vizarra E., Bugiani M., Goffrini P., et al. Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Molec Genet 2007, 16:1241-1252.
-
(2007)
Hum Molec Genet
, vol.16
, pp. 1241-1252
-
-
Fernandez-Vizarra, E.1
Bugiani, M.2
Goffrini, P.3
-
34
-
-
33847153121
-
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome
-
Hinson J.T., Fantin V.R., Schonberger J., et al. Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. N Engl J Med 2007, 356:809-819.
-
(2007)
N Engl J Med
, vol.356
, pp. 809-819
-
-
Hinson, J.T.1
Fantin, V.R.2
Schonberger, J.3
-
35
-
-
59149093375
-
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient
-
Blazquez A., Gil-Borlado M.C., Moran M., et al. Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. Neuromuscul Disord 2009, 19:143-146.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 143-146
-
-
Blazquez, A.1
Gil-Borlado, M.C.2
Moran, M.3
-
36
-
-
69949099626
-
Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency
-
Gil-Borlado M.C., Gonzalez-Hoyuela M., Blazquez A., et al. Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. Mitochondrion 2009, 9:299-305.
-
(2009)
Mitochondrion
, vol.9
, pp. 299-305
-
-
Gil-Borlado, M.C.1
Gonzalez-Hoyuela, M.2
Blazquez, A.3
-
37
-
-
56349124605
-
Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects
-
Fernandez-Vizarra E., Tiranti V., Zeviani M. Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects. Biochim Biophys Acta 2009, 1793:200-211.
-
(2009)
Biochim Biophys Acta
, vol.1793
, pp. 200-211
-
-
Fernandez-Vizarra, E.1
Tiranti, V.2
Zeviani, M.3
-
38
-
-
66549106680
-
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene
-
Ramos-Arroyo M.A., Hualde J., Ayechu A., et al. Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. Clin Genet 2009, 75:585-587.
-
(2009)
Clin Genet
, vol.75
, pp. 585-587
-
-
Ramos-Arroyo, M.A.1
Hualde, J.2
Ayechu, A.3
-
39
-
-
77954659697
-
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation
-
Tuppen H.A., Fehmi J., Czermin B., et al. Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Molec Genet Metab 2010, 100:345-348.
-
(2010)
Molec Genet Metab
, vol.100
, pp. 345-348
-
-
Tuppen, H.A.1
Fehmi, J.2
Czermin, B.3
-
40
-
-
0032515555
-
Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria
-
Fellman V., Rapola J., Pihko H., Varilo T., Raivio K.O. Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. Lancet 1998, 351:490-493.
-
(1998)
Lancet
, vol.351
, pp. 490-493
-
-
Fellman, V.1
Rapola, J.2
Pihko, H.3
Varilo, T.4
Raivio, K.O.5
-
41
-
-
44449145860
-
Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
-
Fellman V., Lemmela S., Sajantila A., Pihko H., Jarvela I. Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause. J Hum Genet 2008, 53:554-558.
-
(2008)
J Hum Genet
, vol.53
, pp. 554-558
-
-
Fellman, V.1
Lemmela, S.2
Sajantila, A.3
Pihko, H.4
Jarvela, I.5
-
42
-
-
0036097396
-
Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant
-
Fellman V., Visapaa I., Vujic M., Wennerholm U.B., Peltonen L. Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant. Acta Obstet Gynecol Scand 2002, 81:398-402.
-
(2002)
Acta Obstet Gynecol Scand
, vol.81
, pp. 398-402
-
-
Fellman, V.1
Visapaa, I.2
Vujic, M.3
Wennerholm, U.B.4
Peltonen, L.5
-
43
-
-
0036216303
-
Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE)
-
Rapola J., Heikkila P., Fellman V. Pathology of lethal fetal growth retardation syndrome with aminoaciduria, iron overload, and lactic acidosis (GRACILE). Pediatr Pathol Mol Med 2002, 21:183-193.
-
(2002)
Pediatr Pathol Mol Med
, vol.21
, pp. 183-193
-
-
Rapola, J.1
Heikkila, P.2
Fellman, V.3
-
44
-
-
0642379773
-
The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload
-
Fellman V. The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. Blood Cells Mol Dis 2002, 29:444-450.
-
(2002)
Blood Cells Mol Dis
, vol.29
, pp. 444-450
-
-
Fellman, V.1
-
45
-
-
77955425763
-
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation
-
Kotarsky H., Karikoski R., Mörgelin M., et al. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion 2010, 10:497-509.
-
(2010)
Mitochondrion
, vol.10
, pp. 497-509
-
-
Kotarsky, H.1
Karikoski, R.2
Mörgelin, M.3
-
46
-
-
77955059876
-
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency
-
Moran M., Marin-Buera L., Gil-Borlado M.C., et al. Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. Hum Mutat 2010, 31:930-941.
-
(2010)
Hum Mutat
, vol.31
, pp. 930-941
-
-
Moran, M.1
Marin-Buera, L.2
Gil-Borlado, M.C.3
-
47
-
-
0034822296
-
Neonatal presentation of coenzyme Q10 deficiency
-
Rahman S., Hargreaves I., Clayton P., Heales S. Neonatal presentation of coenzyme Q10 deficiency. J Pediatr 2001, 139:456-458.
-
(2001)
J Pediatr
, vol.139
, pp. 456-458
-
-
Rahman, S.1
Hargreaves, I.2
Clayton, P.3
Heales, S.4
-
48
-
-
84879793260
-
Impact of the mitochondrial genetic background in complex III deficiency
-
Gil Borlado M.C., Moreno Lastres D., Gonzalez Hoyuela M., et al. Impact of the mitochondrial genetic background in complex III deficiency. PLoS One 2010, 5:e12801.
-
(2010)
PLoS One
, vol.5
-
-
Gil Borlado, M.C.1
Moreno Lastres, D.2
Gonzalez Hoyuela, M.3
-
49
-
-
42749083327
-
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ
-
Barel O., Shorer Z., Flusser H., et al. Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. Am J Hum Genet 2008, 82:1211-1216.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 1211-1216
-
-
Barel, O.1
Shorer, Z.2
Flusser, H.3
-
50
-
-
79251499574
-
The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency; a viable mouse model for mitochondrial hepatopathy
-
Levéen P., Kotarsky H., Mörgelin M., Karikoski R., Elmér E., Fellman V. The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency; a viable mouse model for mitochondrial hepatopathy. Hepatology 2011, 53:437-447.
-
(2011)
Hepatology
, vol.53
, pp. 437-447
-
-
Levéen, P.1
Kotarsky, H.2
Mörgelin, M.3
Karikoski, R.4
Elmér, E.5
Fellman, V.6
-
51
-
-
0033754154
-
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy
-
Valnot I., Osmond S., Gigarel N., et al. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 2000, 67:1104-1109.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1104-1109
-
-
Valnot, I.1
Osmond, S.2
Gigarel, N.3
-
52
-
-
69649100936
-
Acute infantile liver failure due to mutations in the TRMU gene
-
Zeharia A., Shaag A., Pappo O., et al. Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet 2009, 85:401-407.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 401-407
-
-
Zeharia, A.1
Shaag, A.2
Pappo, O.3
-
53
-
-
78650702096
-
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
-
Kemp J.P., Smith P.M., Pyle A., et al. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain 2011, 134:183-195.
-
(2011)
Brain
, vol.134
, pp. 183-195
-
-
Kemp, J.P.1
Smith, P.M.2
Pyle, A.3
-
54
-
-
8344259033
-
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency
-
Coenen M.J., Antonicka H., Ugalde C., et al. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med 2004, 351:2080-2086.
-
(2004)
N Engl J Med
, vol.351
, pp. 2080-2086
-
-
Coenen, M.J.1
Antonicka, H.2
Ugalde, C.3
-
55
-
-
79951812633
-
Mutation in subdomain G′ of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle
-
Smits P., Antonicka H., van Hasselt P.M., et al. Mutation in subdomain G′ of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. Eur J Hum Genet 2011, 19:275-279.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 275-279
-
-
Smits, P.1
Antonicka, H.2
van Hasselt, P.M.3
-
56
-
-
33846006253
-
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu
-
Valente L., Tiranti V., Marsano R.M., et al. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet 2007, 80:44-58.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 44-58
-
-
Valente, L.1
Tiranti, V.2
Marsano, R.M.3
-
57
-
-
36849091403
-
Mitochondrial disease: a practical approach for primary care physicians
-
Haas R.H., Parikh S., Falk M.J., et al. Mitochondrial disease: a practical approach for primary care physicians. Pediatrics 2007, 120:1326-1333.
-
(2007)
Pediatrics
, vol.120
, pp. 1326-1333
-
-
Haas, R.H.1
Parikh, S.2
Falk, M.J.3
|