-
1
-
-
0042266280
-
Minimum birth prevalence of mitochondrial respiratory chain disorders in children
-
D. Skladal, J. Halliday, and D.R. Thorburn Minimum birth prevalence of mitochondrial respiratory chain disorders in children Brain 126 2003 1905 1912
-
(2003)
Brain
, vol.126
, pp. 1905-1912
-
-
Skladal, D.1
Halliday, J.2
Thorburn, D.R.3
-
2
-
-
2942562564
-
Mitochondrial disorders: Prevalence, myths and advances
-
D.R. Thorburn Mitochondrial disorders: prevalence, myths and advances J. Inherit. Metab. Dis. 27 2004 349 362
-
(2004)
J. Inherit. Metab. Dis.
, vol.27
, pp. 349-362
-
-
Thorburn, D.R.1
-
3
-
-
0027481838
-
Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies
-
J.M.F. Trijbels, H.R. Scholte, W. Ruitenbeek, R.C.A. Sengers, A.J.M. Janssen, and H.F.M. Busch Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies Eur. J. Pediatr. 152 1993 178 184
-
(1993)
Eur. J. Pediatr.
, vol.152
, pp. 178-184
-
-
Trijbels, J.M.F.1
Scholte, H.R.2
Ruitenbeek, W.3
Sengers, R.C.A.4
Janssen, A.J.M.5
Busch, H.F.M.6
-
4
-
-
0033646445
-
Practical problems in detecting abnormal mitochondrial functions and genomes
-
D.R. Thorburn Practical problems in detecting abnormal mitochondrial functions and genomes Hum. Reprod. 15 Suppl. 2 2000 57 67
-
(2000)
Hum. Reprod.
, vol.15
, Issue.2
, pp. 57-67
-
-
Thorburn, D.R.1
-
5
-
-
0035024320
-
Diagnosis of mitochondrial disorders: Clinical and biochemical approach
-
D.R. Thorburn, and J. Smeitink Diagnosis of mitochondrial disorders: clinical and biochemical approach J. Inherit. Metab. Dis. 24 2001 312 316
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, pp. 312-316
-
-
Thorburn, D.R.1
Smeitink, J.2
-
7
-
-
9644265636
-
Respiratory chain enzyme analysis in muscle and liver
-
D.R. Thorburn, C.W. Chow, and D.M. Kirby Respiratory chain enzyme analysis in muscle and liver Mitochondrion 4 2004 (in press)
-
(2004)
Mitochondrion
, vol.4
-
-
Thorburn, D.R.1
Chow, C.W.2
Kirby, D.M.3
-
8
-
-
0025126453
-
Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies
-
X. Zheng, J.M. Shoffner, A.S. Voljavec, and D.C. Wallace Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies Biochim. Biophys. Acta 1019 1990 1 10
-
(1990)
Biochim. Biophys. Acta
, vol.1019
, pp. 1-10
-
-
Zheng, X.1
Shoffner, J.M.2
Voljavec, A.S.3
Wallace, D.C.4
-
9
-
-
8944244529
-
Deficiency of respiratory chain complex I is a common cause of Leigh disease
-
A.A. Morris, J.V. Leonard, G.K. Brown, S.K. Bidouki, L.A. Bindoff, C.E. Woodward, A.E. Harding, B.D. Lake, B.N. Harding, M.A. Farrell, J.E. Bell, M. Mirakhur, and D.M. Turnbull Deficiency of respiratory chain complex I is a common cause of Leigh disease Ann. Neurol. 40 1996 25 30
-
(1996)
Ann. Neurol.
, vol.40
, pp. 25-30
-
-
Morris, A.A.1
Leonard, J.V.2
Brown, G.K.3
Bidouki, S.K.4
Bindoff, L.A.5
Woodward, C.E.6
Harding, A.E.7
Lake, B.D.8
Harding, B.N.9
Farrell, M.A.10
Bell, J.E.11
Mirakhur, M.12
Turnbull, D.M.13
-
10
-
-
0030051689
-
Familial cardiomyopathy with cataracts and lactic acidosis: A defect in complex I (NADH-Dehydrogenase) of the mitochondria respiratory chain
-
S. Pitkanen, F. Merante, D.R. Mcleod, D. Applegarth, T. Tong, and B.H. Robinson Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-Dehydrogenase) of the mitochondria respiratory chain Pediatr. Res. 39 1996 513 521
-
(1996)
Pediatr. Res.
, vol.39
, pp. 513-521
-
-
Pitkanen, S.1
Merante, F.2
McLeod, D.R.3
Applegarth, D.4
Tong, T.5
Robinson, B.H.6
-
11
-
-
0028291367
-
An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria
-
M.A. Birch-Machin, H.L. Briggs, A.A. Saborido, L.A. Bindoff, and D.M. Turnbull An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria Biochem. Med. Metabol. Biol. 51 1994 35 42
-
(1994)
Biochem. Med. Metabol. Biol.
, vol.51
, pp. 35-42
-
-
Birch-Machin, M.A.1
Briggs, H.L.2
Saborido, A.A.3
Bindoff, L.A.4
Turnbull, D.M.5
-
12
-
-
0030015691
-
Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle
-
H.A. Bentlage, U. Wendel, H. Schagger, H.J. ter Laak, A.J. Janssen, and J.M. Trijbels Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle Neurology 47 1996 243 248
-
(1996)
Neurology
, vol.47
, pp. 243-248
-
-
Bentlage, H.A.1
Wendel, U.2
Schagger, H.3
Ter Laak, H.J.4
Janssen, A.J.5
Trijbels, J.M.6
-
13
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
A. Rotig, P. de Lonlay, D. Chretien, F. Foury, M. Koenig, D. Sidi, A. Munnich, and P. Rustin Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia Nat. Genet. 17 1997 215 217
-
(1997)
Nat. Genet.
, vol.17
, pp. 215-217
-
-
Rotig, A.1
De Lonlay, P.2
Chretien, D.3
Foury, F.4
Koenig, M.5
Sidi, D.6
Munnich, A.7
Rustin, P.8
-
14
-
-
0032893995
-
Respiratory chain complex I deficiency. An underdiagnosed energy generation disorder
-
D.M. Kirby, M. Crawford, M.A. Cleary, H.H.M. Dahl, X. Dennett, and D.R. Thorburn Respiratory chain complex I deficiency. An underdiagnosed energy generation disorder Neurology 52 1999 1255 1264
-
(1999)
Neurology
, vol.52
, pp. 1255-1264
-
-
Kirby, D.M.1
Crawford, M.2
Cleary, M.A.3
Dahl, H.H.M.4
Dennett, X.5
Thorburn, D.R.6
-
15
-
-
0028021292
-
Reference charts for respiratory chain activities in human tissues
-
D. Chretien, P. Rustin, T. Bourgeron, A. Rotig, J.M. Saudubray, and A. Munnich Reference charts for respiratory chain activities in human tissues Clin. Chim. Acta 228 1994 53 70
-
(1994)
Clin. Chim. Acta
, vol.228
, pp. 53-70
-
-
Chretien, D.1
Rustin, P.2
Bourgeron, T.3
Rotig, A.4
Saudubray, J.M.5
Munnich, A.6
-
16
-
-
0026658519
-
Guidelines for the diagnosis of rheumatic fever. Jones Criteria, 1992 update
-
Special Writing Group of the Committee on Rheumatic Fever, Endocarditis Kawasaki Disease of the Council on Cardiovascular Disease in the Young of the American Heart Association
-
Special Writing Group of the Committee on Rheumatic Fever, Endocarditis Kawasaki Disease of the Council on Cardiovascular Disease in the Young of the American Heart Association Guidelines for the diagnosis of rheumatic fever. Jones Criteria, 1992 update JAMA 268 1992 2069 2073
-
(1992)
JAMA
, vol.268
, pp. 2069-2073
-
-
-
17
-
-
0037069229
-
Diagnostic criteria for respiratory chain disorders in adults and children
-
F.P. Bernier, A. Boneh, X. Dennett, C.W. Chow, M.A. Cleary, and D.R. Thorburn Diagnostic criteria for respiratory chain disorders in adults and children Neurology 59 2002 1406 1411
-
(2002)
Neurology
, vol.59
, pp. 1406-1411
-
-
Bernier, F.P.1
Boneh, A.2
Dennett, X.3
Chow, C.W.4
Cleary, M.A.5
Thorburn, D.R.6
-
18
-
-
0037069274
-
Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children
-
N.I. Wolf, and J.A.M. Smeitink Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children Neurology 59 2002 1402 1405
-
(2002)
Neurology
, vol.59
, pp. 1402-1405
-
-
Wolf, N.I.1
Smeitink, J.A.M.2
-
19
-
-
9144223005
-
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency
-
S. Lebon, M. Chol, P. Benit, C. Mugnier, D. Chretien, I. Giurgea, I. Kern, E. Girardin, L. Hertz-Pannier, P. de Lonlay, A. Rötig, P. Rustin, and A. Munnich Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency J. Med. Genet. 40 2003 896 899
-
(2003)
J. Med. Genet.
, vol.40
, pp. 896-899
-
-
Lebon, S.1
Chol, M.2
Benit, P.3
Mugnier, C.4
Chretien, D.5
Giurgea, I.6
Kern, I.7
Girardin, E.8
Hertz-Pannier, L.9
De Lonlay, P.10
Rötig, A.11
Rustin, P.12
Munnich, A.13
-
20
-
-
9144222664
-
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
-
R. McFarland, D.M. Kirby, K.J. Fowler, A. Ohtake, M.T. Ryan, D.J. Amor, J.M. Fletcher, J.W. Dixon, F.A. Collins, D.M. Turnbull, R.W. Taylor, and D.R. Thorburn de novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency Ann. Neurol. 55 2004 58 64
-
(2004)
Ann. Neurol.
, vol.55
, pp. 58-64
-
-
McFarland, R.1
Kirby, D.M.2
Fowler, K.J.3
Ohtake, A.4
Ryan, M.T.5
Amor, D.J.6
Fletcher, J.M.7
Dixon, J.W.8
Collins, F.A.9
Turnbull, D.M.10
Taylor, R.W.11
Thorburn, D.R.12
-
21
-
-
0032712903
-
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation
-
S.L. White, S. Shanske, J.J. McGill, H. Mountain, M.T. Geraghty, S. DiMauro, H.H. Dahl, and D.R. Thorburn Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation J. Inherit. Metab. Dis. 22 1999 899 914
-
(1999)
J. Inherit. Metab. Dis.
, vol.22
, pp. 899-914
-
-
White, S.L.1
Shanske, S.2
McGill, J.J.3
Mountain, H.4
Geraghty, M.T.5
Dimauro, S.6
Dahl, H.H.7
Thorburn, D.R.8
-
22
-
-
0027412964
-
Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts
-
B. Gerard, T. Bourgeron, D. Chretien, A. Rotig, A. Munnich, and P. Rustin Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts Eur. J. Pediatr. 152 1993 270
-
(1993)
Eur. J. Pediatr.
, vol.152
, pp. 270
-
-
Gerard, B.1
Bourgeron, T.2
Chretien, D.3
Rotig, A.4
Munnich, A.5
Rustin, P.6
-
23
-
-
0348149002
-
Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi
-
L. Niers, L. van den Heuvel, F. Trijbels, R. Sengers, and J. Smeitink Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi J. Inherit. Metab. Dis. 26 2003 647 658
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 647-658
-
-
Niers, L.1
Van Den Heuvel, L.2
Trijbels, F.3
Sengers, R.4
Smeitink, J.5
-
24
-
-
0034255870
-
74th ENMC International Workshop: Mitochondrial Diseases 19-20 November 1999, Naarden, the Netherlands
-
J. Poulton, and D.M. Turnbull 74th ENMC International Workshop: Mitochondrial Diseases 19-20 November 1999, Naarden, the Netherlands Neuromuscul. Disord. 10 2000 460 462
-
(2000)
Neuromuscul. Disord.
, vol.10
, pp. 460-462
-
-
Poulton, J.1
Turnbull, D.M.2
-
25
-
-
0033362171
-
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993
-
S.L. White, V.R. Collins, R. Wolfe, M.A. Cleary, S. Shanske, S. DiMauro, H.H. Dahl, and D.R. Thorburn Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993 Am. J. Hum. Genet. 65 1999 474 482
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 474-482
-
-
White, S.L.1
Collins, V.R.2
Wolfe, R.3
Cleary, M.A.4
Shanske, S.5
Dimauro, S.6
Dahl, H.H.7
Thorburn, D.R.8
-
26
-
-
0034949930
-
Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
-
D.R. Thorburn, and H.H.M. Dahl Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options Am. J. Med. Genet. (Semin. Med. Genet.) 106 2001 102 114
-
(2001)
Am. J. Med. Genet. (Semin. Med. Genet.)
, vol.106
, pp. 102-114
-
-
Thorburn, D.R.1
Dahl, H.H.M.2
-
27
-
-
0036078149
-
Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: Clinical implications
-
J. Poulton, and D.R. Marchington Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications Reproduction 123 2002 751 755
-
(2002)
Reproduction
, vol.123
, pp. 751-755
-
-
Poulton, J.1
Marchington, D.R.2
-
28
-
-
0141504960
-
Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases
-
N.L. Dean, B.J. Battersby, A. Ao, R.G. Gosden, S.L. Tan, and E.A. Shoubridge Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases Mol. Hum. Reprod. 9 2003 631 638
-
(2003)
Mol. Hum. Reprod.
, vol.9
, pp. 631-638
-
-
Dean, N.L.1
Battersby, B.J.2
Ao, A.3
Gosden, R.G.4
Tan, S.L.5
Shoubridge, E.A.6
-
29
-
-
0037943964
-
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome
-
P. Benit, J. Steffann, S. Lebon, D. Chretien, N. Kadhom, P. de Lonlay, A. Goldenberg, Y. Dumez, M. Dommergues, P. Rustin, A. Munnich, and A. Rotig Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome Hum. Genet. 112 2003 563 566
-
(2003)
Hum. Genet.
, vol.112
, pp. 563-566
-
-
Benit, P.1
Steffann, J.2
Lebon, S.3
Chretien, D.4
Kadhom, N.5
De Lonlay, P.6
Goldenberg, A.7
Dumez, Y.8
Dommergues, M.9
Rustin, P.10
Munnich, A.11
Rotig, A.12
-
30
-
-
0037221950
-
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
-
H. Antonicka, A. Mattman, C.G. Carlson, D.M. Glerum, K.C. Hoffbuhr, S.C. Leary, N.G. Kennaway, and E.A. Shoubridge Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy Am. J. Hum. Genet. 72 2003 101 114
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 101-114
-
-
Antonicka, H.1
Mattman, A.2
Carlson, C.G.3
Glerum, D.M.4
Hoffbuhr, K.C.5
Leary, S.C.6
Kennaway, N.G.7
Shoubridge, E.A.8
-
31
-
-
0142154270
-
Mutations in COX10 result in a defect in mitochondrial heme a biosynthesis and account for multiple, early onset clinical phenotypes associated with isolated COX deficiency
-
H. Antonicka, S.C. Leary, G.H. Guercin, J.N. Agar, R. Horvath, N.G. Kennaway, C.O. Harding, M. Jaksch, and E.A. Shoubridge Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early onset clinical phenotypes associated with isolated COX deficiency Hum. Mol. Genet. 12 2003 2693 2702
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2693-2702
-
-
Antonicka, H.1
Leary, S.C.2
Guercin, G.H.3
Agar, J.N.4
Horvath, R.5
Kennaway, N.G.6
Harding, C.O.7
Jaksch, M.8
Shoubridge, E.A.9
-
32
-
-
17344362021
-
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
-
Z. Zhu, J. Yao, T. Johns, K. Fu, I. De Bie, C. Macmillan, A.P. Cuthbert, R.F. Newbold, J. Wang, M. Chevrette, G.K. Brown, R.M. Brown, and E.A. Shoubridge SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome Nat. Genet. 20 1998 337 343
-
(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
Cuthbert, A.P.7
Newbold, R.F.8
Wang, J.9
Chevrette, M.10
Brown, G.K.11
Brown, R.M.12
Shoubridge, E.A.13
-
33
-
-
0035121867
-
A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13
-
A. Seyda, R.F. Newbold, T.J. Hudson, A. Verner, N. MacKay, S. Winter, A. Feigenbaum, S. Malaney, D. Gonzalez-Halphen, A.P. Cuthbert, and B.H. Robinson A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13 Am. J. Hum. Genet. 68 2001 386 396
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 386-396
-
-
Seyda, A.1
Newbold, R.F.2
Hudson, T.J.3
Verner, A.4
MacKay, N.5
Winter, S.6
Feigenbaum, A.7
Malaney, S.8
Gonzalez-Halphen, D.9
Cuthbert, A.P.10
Robinson, B.H.11
-
34
-
-
12244291215
-
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes
-
P. De Lonlay, C. Mugnier, D. Sanlaville, K. Chantrel-Groussard, P. Benit, S. Lebon, D. Chretien, N. Kadhom, S. Saker, G. Gyapay, S. Romana, J. Weissenbach, A. Munnich, P. Rustin, and A. Rotig Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes Hum. Mol. Genet. 11 2002 3273 3281
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 3273-3281
-
-
De Lonlay, P.1
Mugnier, C.2
Sanlaville, D.3
Chantrel-Groussard, K.4
Benit, P.5
Lebon, S.6
Chretien, D.7
Kadhom, N.8
Saker, S.9
Gyapay, G.10
Romana, S.11
Weissenbach, J.12
Munnich, A.13
Rustin, P.14
Rotig, A.15
-
35
-
-
8844244960
-
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
-
D.M. Kirby, R. Salemi, C. Sugiana, A. Ohtake, L. Parry, K.M. Bell, E. Kirk, A. Boneh, R.W. Taylor, H.H.M. Dahl, M.T. Ryan, and D.R. Thorburn NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency J. Clin. Invest. 114 2004 (in press)
-
(2004)
J. Clin. Invest.
, vol.114
-
-
Kirby, D.M.1
Salemi, R.2
Sugiana, C.3
Ohtake, A.4
Parry, L.5
Bell, K.M.6
Kirk, E.7
Boneh, A.8
Taylor, R.W.9
Dahl, H.H.M.10
Ryan, M.T.11
Thorburn, D.R.12
-
36
-
-
0035283150
-
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome
-
V. Petruzzella, R. Vergari, I. Puzziferri, D. Boffoli, E. Lamantea, M. Zeviani, and S. Papa A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome Hum. Mol. Genet. 10 2001 529 535
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 529-535
-
-
Petruzzella, V.1
Vergari, R.2
Puzziferri, I.3
Boffoli, D.4
Lamantea, E.5
Zeviani, M.6
Papa, S.7
-
37
-
-
0030056515
-
Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase
-
S. Pitkanen, and B.H. Robinson Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase J. Clin. Invest. 98 1996 345 351
-
(1996)
J. Clin. Invest.
, vol.98
, pp. 345-351
-
-
Pitkanen, S.1
Robinson, B.H.2
-
38
-
-
0141535366
-
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh disease
-
D.M. Kirby, A. Boneh, C.W. Chow, A. Ohtake, M.T. Ryan, D. Thyagarajan, and D.R. Thorburn Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh disease Ann. Neurol. 54 2003 473 478
-
(2003)
Ann. Neurol.
, vol.54
, pp. 473-478
-
-
Kirby, D.M.1
Boneh, A.2
Chow, C.W.3
Ohtake, A.4
Ryan, M.T.5
Thyagarajan, D.6
Thorburn, D.R.7
-
39
-
-
4744344532
-
Mutations of the mitochondrial ND1 gene as a cause of MELAS
-
D.M. Kirby, R. Mc Farland, A. Ohtake, C. Dunning, M.T. Ryan, C. Wilson, D. Ketteridge, D.M. Turnbull, D.R. Thorburn, and R.W. Taylor Mutations of the mitochondrial ND1 gene as a cause of MELAS J. Med. Genet. 41 2004 (in press)
-
(2004)
J. Med. Genet.
, vol.41
-
-
Kirby, D.M.1
Mc Farland, R.2
Ohtake, A.3
Dunning, C.4
Ryan, M.T.5
Wilson, C.6
Ketteridge, D.7
Turnbull, D.M.8
Thorburn, D.R.9
Taylor, R.W.10
-
40
-
-
0242321724
-
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene
-
C. Ugalde, R.H. Triepels, M.J. Coenen, L.P. van den Heuvel, R. Smeets, J. Uusimaa, P. Briones, J. Campistol, K. Majamaa, J.A. Smeitink, and L.G. Nijtmans Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene Ann. Neurol. 54 2003 665 669
-
(2003)
Ann. Neurol.
, vol.54
, pp. 665-669
-
-
Ugalde, C.1
Triepels, R.H.2
Coenen, M.J.3
Van Den Heuvel, L.P.4
Smeets, R.5
Uusimaa, J.6
Briones, P.7
Campistol, J.8
Majamaa, K.9
Smeitink, J.A.10
Nijtmans, L.G.11
-
41
-
-
1642382090
-
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency
-
C. Ugalde, R.J. Janssen, L.P. van den Heuvel, J.A. Smeitink, and L.G. Nijtmans Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency Hum. Mol. Genet. 13 2004 659 667
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 659-667
-
-
Ugalde, C.1
Janssen, R.J.2
Van Den Heuvel, L.P.3
Smeitink, J.A.4
Nijtmans, L.G.5
-
42
-
-
0242353332
-
Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency
-
H. Antonicka, I. Ogilvie, T. Taivassalo, R.P. Anitori, R.G. Haller, J. Vissing, N.G. Kennaway, and E.A. Shoubridge Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency J. Biol. Chem. 278 2003 43081 43088
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 43081-43088
-
-
Antonicka, H.1
Ogilvie, I.2
Taivassalo, T.3
Anitori, R.P.4
Haller, R.G.5
Vissing, J.6
Kennaway, N.G.7
Shoubridge, E.A.8
-
43
-
-
0037312846
-
Human mitochondrial complex I deficiency: Investigating transcriptional responses by microarray
-
F. Van Der, H. Westhuizen, L. Van Den, P. Heuvel, R. Smeets, J.A. Veltman, R. Pfundt, A. Van, G. Kessel, B.M. Ursing, and J.A. Smeitink Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray Neuropediatrics 34 2003 14 22
-
(2003)
Neuropediatrics
, vol.34
, pp. 14-22
-
-
Van Der, F.1
Westhuizen, H.2
Van Den, L.3
Heuvel, P.4
Smeets, R.5
Veltman, J.A.6
Pfundt, R.7
Van, A.8
Kessel, G.9
Ursing, B.M.10
Smeitink, J.A.11
-
44
-
-
0033623822
-
Leigh disease caused by the mitochondrial DNA G14459A mutation in two unrelated families
-
D.M. Kirby, S.G. Kahler, M.L. Freckmann, D. Reddihough, and D.R. Thorburn Leigh disease caused by the mitochondrial DNA G14459A mutation in two unrelated families Ann. Neurol. 48 2000 102 104
-
(2000)
Ann. Neurol.
, vol.48
, pp. 102-104
-
-
Kirby, D.M.1
Kahler, S.G.2
Freckmann, M.L.3
Reddihough, D.4
Thorburn, D.R.5
-
45
-
-
0036714966
-
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy
-
B. Funalot, P. Reynier, A. Vighetto, D. Ranoux, J.P. Bonnefont, C. Godinot, Y. Malthiery, and J.L. Mas Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy Ann. Neurol. 52 2002 374 377
-
(2002)
Ann. Neurol.
, vol.52
, pp. 374-377
-
-
Funalot, B.1
Reynier, P.2
Vighetto, A.3
Ranoux, D.4
Bonnefont, J.P.5
Godinot, C.6
Malthiery, Y.7
Mas, J.L.8
-
46
-
-
0037337347
-
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency
-
M. Chol, S. Lebon, P. Benit, D. Chretien, P. de Lonlay, A. Goldenberg, S. Odent, L. Hertz-Pannier, C. Vincent-Delorme, V. Cormier-Daire, P. Rustin, A. Rotig, and A. Munnich The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency J. Med. Genet. 40 2003 188 191
-
(2003)
J. Med. Genet.
, vol.40
, pp. 188-191
-
-
Chol, M.1
Lebon, S.2
Benit, P.3
Chretien, D.4
De Lonlay, P.5
Goldenberg, A.6
Odent, S.7
Hertz-Pannier, L.8
Vincent-Delorme, C.9
Cormier-Daire, V.10
Rustin, P.11
Rotig, A.12
Munnich, A.13
-
47
-
-
0033865170
-
Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation
-
I. Penisson-Besnier, P. Reynier, P. Asfar, O. Douay, A. Sortais, F. Dubas, J. Emile, and Y. Malthiery Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation Neurology 55 2000 317 318
-
(2000)
Neurology
, vol.55
, pp. 317-318
-
-
Penisson-Besnier, I.1
Reynier, P.2
Asfar, P.3
Douay, O.4
Sortais, A.5
Dubas, F.6
Emile, J.7
Malthiery, Y.8
-
48
-
-
11144357770
-
A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality
-
M. Crimi, A. Papadimitriou, S. Galbiati, P. Palamidou, F. Fortunato, A. Bordoni, U. Papandreou, D. Papadimitriou, G.M. Hadjigeorgiou, E. Drogari, N. Bresolin, and G.P. Comi A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality Pediatr. Res. 55 2004 842 846
-
(2004)
Pediatr. Res.
, vol.55
, pp. 842-846
-
-
Crimi, M.1
Papadimitriou, A.2
Galbiati, S.3
Palamidou, P.4
Fortunato, F.5
Bordoni, A.6
Papandreou, U.7
Papadimitriou, D.8
Hadjigeorgiou, G.M.9
Drogari, E.10
Bresolin, N.11
Comi, G.P.12
-
49
-
-
10744223599
-
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome
-
M. Crimi, S. Galbiati, I. Moroni, A. Bordoni, M.P. Perini, E. Lamantea, M. Sciacco, M. Zeviani, I. Biunno, M. Moggio, G. Scarlato, and G.P. Comi A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome Neurology 60 2003 1857 1861
-
(2003)
Neurology
, vol.60
, pp. 1857-1861
-
-
Crimi, M.1
Galbiati, S.2
Moroni, I.3
Bordoni, A.4
Perini, M.P.5
Lamantea, E.6
Sciacco, M.7
Zeviani, M.8
Biunno, I.9
Moggio, M.10
Scarlato, G.11
Comi, G.P.12
-
50
-
-
0035112764
-
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients
-
P. Corona, C. Antozzi, F. Carrara, L. D'Incerti, E. Lamantea, V. Tiranti, and M. Zeviani A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients Ann. Neurol. 49 2001 106 110
-
(2001)
Ann. Neurol.
, vol.49
, pp. 106-110
-
-
Corona, P.1
Antozzi, C.2
Carrara, F.3
D'Incerti, L.4
Lamantea, E.5
Tiranti, V.6
Zeviani, M.7
-
51
-
-
0034955881
-
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene
-
R.W. Taylor, R. Singh-Kler, C.M. Hayes, P.E. Smith, and D.M. Turnbull Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene Ann. Neurol. 50 2001 104 107
-
(2001)
Ann. Neurol.
, vol.50
, pp. 104-107
-
-
Taylor, R.W.1
Singh-Kler, R.2
Hayes, C.M.3
Smith, P.E.4
Turnbull, D.M.5
-
52
-
-
0037461319
-
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA
-
M. Deschauer, C. Bamberg, D. Claus, S. Zierz, D.M. Turnbull, and R.W. Taylor Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA Neurology 60 2003 1357 1359
-
(2003)
Neurology
, vol.60
, pp. 1357-1359
-
-
Deschauer, M.1
Bamberg, C.2
Claus, D.3
Zierz, S.4
Turnbull, D.M.5
Taylor, R.W.6
-
54
-
-
0037235874
-
Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
-
D. Liolitsa, S. Rahman, S. Benton, L.J. Carr, and M.G. Hanna Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Ann. Neurol. 53 2003 128 132
-
(2003)
Ann. Neurol.
, vol.53
, pp. 128-132
-
-
Liolitsa, D.1
Rahman, S.2
Benton, S.3
Carr, L.J.4
Hanna, M.G.5
-
55
-
-
0032707838
-
The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
-
T. Pulkes, L. Eunson, V. Patterson, A. Siddiqui, N.W. Wood, I.P. Nelson, J.A. Morgan-Hughes, and M.G. Hanna The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS Ann. Neurol. 46 1999 916 919
-
(1999)
Ann. Neurol.
, vol.46
, pp. 916-919
-
-
Pulkes, T.1
Eunson, L.2
Patterson, V.3
Siddiqui, A.4
Wood, N.W.5
Nelson, I.P.6
Morgan-Hughes, J.A.7
Hanna, M.G.8
-
56
-
-
0037347397
-
A novel mtDNA C11777A mutation in Leigh syndrome
-
H. Komaki, J. Akanuma, H. Iwata, T. Takahashi, Y. Mashima, I. Nonaka, and Y. Goto A novel mtDNA C11777A mutation in Leigh syndrome Mitochondrion 2 2003 293 304
-
(2003)
Mitochondrion
, vol.2
, pp. 293-304
-
-
Komaki, H.1
Akanuma, J.2
Iwata, H.3
Takahashi, T.4
Mashima, Y.5
Nonaka, I.6
Goto, Y.7
-
57
-
-
1642463791
-
Leigh syndrome caused by mitochondrial DNA G13513A mutation: Frequency and clinical features in Japan
-
A. Sudo, S. Honzawa, I. Nonaka, and Y. Goto Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan J. Hum. Genet. 49 2004 92 96
-
(2004)
J. Hum. Genet.
, vol.49
, pp. 92-96
-
-
Sudo, A.1
Honzawa, S.2
Nonaka, I.3
Goto, Y.4
-
58
-
-
0031577593
-
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS
-
F.M. Santorelli, K. Tanji, R. Kulikova, S. Shanske, L. Vilarinho, A.P. Hays, and S. DiMauro Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS Biochem. Biophys. Res. Commun. 238 1997 326 328
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.238
, pp. 326-328
-
-
Santorelli, F.M.1
Tanji, K.2
Kulikova, R.3
Shanske, S.4
Vilarinho, L.5
Hays, A.P.6
Dimauro, S.7
-
59
-
-
0029091199
-
Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation
-
J.M. Shoffner, M.D. Brown, C. Stugard, A.S. Jun, S. Pollock, R.H. Haas, A. Kaufman, D. Koontz, Y. Kim, J.R. Graham, E. Smith, J. Dixon, and D.C. Wallace Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation Ann. Neurol. 38 1995 163 169
-
(1995)
Ann. Neurol.
, vol.38
, pp. 163-169
-
-
Shoffner, J.M.1
Brown, M.D.2
Stugard, C.3
Jun, A.S.4
Pollock, S.5
Haas, R.H.6
Kaufman, A.7
Koontz, D.8
Kim, Y.9
Graham, J.R.10
Smith, E.11
Dixon, J.12
Wallace, D.C.13
-
60
-
-
0141758436
-
Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene
-
A. Solano, M. Roig, C. Vives-Bauza, J. Hernandez-Pena, E. Garcia-Arumi, A. Playan, M.J. Lopez-Perez, A.L. Andreu, and J. Montoya Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene Ann. Neurol. 54 2003 527 530
-
(2003)
Ann. Neurol.
, vol.54
, pp. 527-530
-
-
Solano, A.1
Roig, M.2
Vives-Bauza, C.3
Hernandez-Pena, J.4
Garcia-Arumi, E.5
Playan, A.6
Lopez-Perez, M.J.7
Andreu, A.L.8
Montoya, J.9
-
61
-
-
0034988212
-
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
-
P. Benit, D. Chretien, N. Kadhom, P. de Lonlay-Debeney, V. Cormier-Daire, A. Cabral, S. Peudenier, P. Rustin, A. Munnich, and A. Rotig Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency Am. J. Hum. Genet. 68 2001 1344 1352
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1344-1352
-
-
Benit, P.1
Chretien, D.2
Kadhom, N.3
De Lonlay-Debeney, P.4
Cormier-Daire, V.5
Cabral, A.6
Peudenier, S.7
Rustin, P.8
Munnich, A.9
Rotig, A.10
-
62
-
-
0035132188
-
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
-
J. Loeffen, O. Elpeleg, J. Smeitink, R. Smeets, S. Stockler-Ipsiroglu, H. Mandel, R. Sengers, F. Trijbels, and L. van den Heuvel Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy Ann. Neurol. 49 2001 195 201
-
(2001)
Ann. Neurol.
, vol.49
, pp. 195-201
-
-
Loeffen, J.1
Elpeleg, O.2
Smeitink, J.3
Smeets, R.4
Stockler-Ipsiroglu, S.5
Mandel, H.6
Sengers, R.7
Trijbels, F.8
Van Den Heuvel, L.9
-
63
-
-
9144221957
-
Mutant NDUFS3 subunit of mitochondrial Complex I causes Leigh syndrome
-
P. Benit, A. Slama, F. Cartault, I. Giurgea, D. Chretien, S. Lebon, C. Marsac, A. Munnich, A. Rotig, and P. Rustin Mutant NDUFS3 subunit of mitochondrial Complex I causes Leigh syndrome J. Med. Genet. 41 2004 14 17
-
(2004)
J. Med. Genet.
, vol.41
, pp. 14-17
-
-
Benit, P.1
Slama, A.2
Cartault, F.3
Giurgea, I.4
Chretien, D.5
Lebon, S.6
Marsac, C.7
Munnich, A.8
Rotig, A.9
Rustin, P.10
-
64
-
-
0033050180
-
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
-
R.H. Triepels, L.P. van den Heuvel, J.L. Loeffen, C.A. Buskens, R.J. Smeets, M. Rubio, S.M. E. Gozalbo, E.C. Budde, F.A. Mariman, P.G. Wijburg, J.M. Barth, and J.A. Trijbels Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I Ann. Neurol. 45 1999 787 790
-
(1999)
Ann. Neurol.
, vol.45
, pp. 787-790
-
-
Triepels, R.H.1
Van Den Heuvel, L.P.2
Loeffen, J.L.3
Buskens, C.A.4
Smeets, R.J.5
Rubio, M.6
Gozalbo, S.M.E.7
Budde, E.C.8
Mariman, F.A.9
Wijburg, P.G.10
Barth, J.M.11
Trijbels, J.A.12
-
65
-
-
0032471351
-
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
-
J. Loeffen, J. Smeitink, R. Triepels, R. Smeets, M. Schuelke, R. Sengers, F. Trijbels, B. Hamel, R. Mullaart, and L. van den Heuvel The first nuclear-encoded complex I mutation in a patient with Leigh syndrome Am. J. Hum. Genet. 63 1998 1598 1608
-
(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
Trijbels, F.7
Hamel, B.8
Mullaart, R.9
Van Den Heuvel, L.10
-
66
-
-
2442706495
-
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
-
V. Procaccio, and D.C. Wallace Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations Neurology 62 2004 1899 1901
-
(2004)
Neurology
, vol.62
, pp. 1899-1901
-
-
Procaccio, V.1
Wallace, D.C.2
-
67
-
-
0032977683
-
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
-
M. Schuelke, J. Smeitink, E. Mariman, J. Loeffen, B. Plecko, F. Trijbels, S. Stockler-Ipsiroglu, and L. van den Heuvel Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy Nat. Genet. 21 1999 260 261
-
(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
Stockler-Ipsiroglu, S.7
Van Den Heuvel, L.8
-
68
-
-
0036229996
-
New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods
-
M. Schuelke, A. Detjen, L. van den Heuvel, C. Korenke, A. Janssen, A. Smits, F. Trijbels, and J. Smeitink New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods Clin. Chem. 48 2002 772 775
-
(2002)
Clin. Chem.
, vol.48
, pp. 772-775
-
-
Schuelke, M.1
Detjen, A.2
Van Den Heuvel, L.3
Korenke, C.4
Janssen, A.5
Smits, A.6
Trijbels, F.7
Smeitink, J.8
-
69
-
-
0037903268
-
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
-
P. Benit, R. Beugnot, D. Chretien, I. Giurgea, P. De Lonlay-Debeney, J.P. Issartel, M. Corral-Debrinski, S. Kerscher, P. Rustin, A. Rotig, and A. Munnich Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy Human Mutat. 21 2003 582 586
-
(2003)
Human Mutat.
, vol.21
, pp. 582-586
-
-
Benit, P.1
Beugnot, R.2
Chretien, D.3
Giurgea, I.4
De Lonlay-Debeney, P.5
Issartel, J.P.6
Corral-Debrinski, M.7
Kerscher, S.8
Rustin, P.9
Rotig, A.10
Munnich, A.11
-
70
-
-
17344365132
-
Demonstration of a new pathogenic mutation in human complex I deficiency: A 5-bp duplication in the 18-kD (AQDQ) subunit
-
L. van den Heuvel, W. Ruitenbeek, R. Smeets, Z. Gelman-Kohan, O. Elpeleg, J. Loeffen, F. Trijbels, E. Mariman, D. de Bruijn, and J. Smeitink Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the 18-kD (AQDQ) subunit Am. J. Hum. Genet. 62 1998 262 268
-
(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
Trijbels, F.7
Mariman, E.8
De Bruijn, D.9
Smeitink, J.10
-
71
-
-
0034682974
-
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene
-
S.M. Budde, L.P. van den Heuvel, A.J. Janssen, R.J. Smeets, C.A. Buskens, L. DeMeirleir, R. Van Coster, M. Baethmann, T. Voit, J.M. Trijbels, and J.A. Smeitink Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene Biochem. Biophys. Res. Commun. 275 2000 63 68
-
(2000)
Biochem. Biophys. Res. Commun.
, vol.275
, pp. 63-68
-
-
Budde, S.M.1
Van Den Heuvel, L.P.2
Janssen, A.J.3
Smeets, R.J.4
Buskens, C.A.5
Demeirleir, L.6
Van Coster, R.7
Baethmann, M.8
Voit, T.9
Trijbels, J.M.10
Smeitink, J.A.11
-
72
-
-
0037029133
-
Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: The NDUFS4 gene
-
V. Petruzzella, and S. Papa Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene Gene 286 2002 149 154
-
(2002)
Gene
, vol.286
, pp. 149-154
-
-
Petruzzella, V.1
Papa, S.2
-
73
-
-
0942288076
-
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
-
S.M. Budde, L.P. van den Heuvel, R.J. Smeets, D. Skladal, J.A. Mayr, C. Boelen, V. Petruzzella, S. Papa, and J.A. Smeitink Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I J. Inherit. Metab. Dis. 26 2003 813 815
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 813-815
-
-
Budde, S.M.1
Van Den Heuvel, L.P.2
Smeets, R.J.3
Skladal, D.4
Mayr, J.A.5
Boelen, C.6
Petruzzella, V.7
Papa, S.8
Smeitink, J.A.9
|