-
1
-
-
79955703875
-
Biochemical diagnosis of mitochondrial disorders
-
R.J. Rodenburg Biochemical diagnosis of mitochondrial disorders J. Inherit. Metab. Dis. 34 2011 283 292
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, pp. 283-292
-
-
Rodenburg, R.J.1
-
2
-
-
84870266832
-
Complex i deficiency: Clinical features, biochemistry and molecular genetics
-
E. Fassone, and S. Rahman Complex I deficiency: clinical features, biochemistry and molecular genetics J. Med. Genet. 49 2012 578 590
-
(2012)
J. Med. Genet.
, vol.49
, pp. 578-590
-
-
Fassone, E.1
Rahman, S.2
-
3
-
-
84860697620
-
Understanding mitochondrial complex i assembly in health and disease
-
M. Mimaki, X. Wang, M. McKenzie, D.R. Thorburn, and M.T. Ryan Understanding mitochondrial complex I assembly in health and disease Biochim. Biophys. Acta 1817 2012 851 862
-
(2012)
Biochim. Biophys. Acta
, vol.1817
, pp. 851-862
-
-
Mimaki, M.1
Wang, X.2
McKenzie, M.3
Thorburn, D.R.4
Ryan, M.T.5
-
4
-
-
84856734831
-
Assembly factors as a new class of disease genes for mitochondrial complex i deficiency: Cause, pathology and treatment options
-
J. Nouws, L.G. Nijtmans, J.A. Smeitink, and R.O. Vogel Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options Brain 135 2012 12 22
-
(2012)
Brain
, vol.135
, pp. 12-22
-
-
Nouws, J.1
Nijtmans, L.G.2
Smeitink, J.A.3
Vogel, R.O.4
-
5
-
-
84856120776
-
Mitochondrial complex i deficiency of nuclear origin II. Non-structural genes
-
H. Pagniez-Mammeri, M. Rak, A. Legrand, P. Benit, P. Rustin, and A. Slama Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes Mol. Genet. Metab. 105 2012 173 179
-
(2012)
Mol. Genet. Metab.
, vol.105
, pp. 173-179
-
-
Pagniez-Mammeri, H.1
Rak, M.2
Legrand, A.3
Benit, P.4
Rustin, P.5
Slama, A.6
-
6
-
-
34147196228
-
Spectrophotometric assay for complex i of the respiratory chain in tissue samples and cultured fibroblasts
-
A.J. Janssen, F.J. Trijbels, R.C. Sengers, J.A. Smeitink, L.P. van den Heuvel, L.T. Wintjes, B.J. Stoltenborg-Hogenkamp, and R.J. Rodenburg Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts Clin. Chem. 53 2007 729 734
-
(2007)
Clin. Chem.
, vol.53
, pp. 729-734
-
-
Janssen, A.J.1
Trijbels, F.J.2
Sengers, R.C.3
Smeitink, J.A.4
Van Den Heuvel, L.P.5
Wintjes, L.T.6
Stoltenborg-Hogenkamp, B.J.7
Rodenburg, R.J.8
-
7
-
-
0026409298
-
Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form
-
H. Schagger, and G. von Jagow Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form Anal. Biochem. 199 1991 223 231
-
(1991)
Anal. Biochem.
, vol.199
, pp. 223-231
-
-
Schagger, H.1
Von Jagow, G.2
-
8
-
-
67349152316
-
Isolated deficiencies of OXPHOS complexes i and IV are identified accurately and quickly by simple enzyme activity immunocapture assays
-
J.H. Willis, R.A. Capaldi, M. Huigsloot, R.J. Rodenburg, J. Smeitink, and M.F. Marusich Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays Biochim. Biophys. Acta 1787 2009 533 538
-
(2009)
Biochim. Biophys. Acta
, vol.1787
, pp. 533-538
-
-
Willis, J.H.1
Capaldi, R.A.2
Huigsloot, M.3
Rodenburg, R.J.4
Smeitink, J.5
Marusich, M.F.6
-
9
-
-
0022485169
-
Purification and analysis of mitochondrial membrane proteins on nondenaturing gradient polyacrylamide gels
-
D.R. Kuonen, P.J. Roberts, and I.R. Cottingham Purification and analysis of mitochondrial membrane proteins on nondenaturing gradient polyacrylamide gels Anal. Biochem. 153 1986 221 226
-
(1986)
Anal. Biochem.
, vol.153
, pp. 221-226
-
-
Kuonen, D.R.1
Roberts, P.J.2
Cottingham, I.R.3
-
10
-
-
0034775551
-
Blue native polyacrylamide gel electrophoresis: A powerful tool in diagnosis of oxidative phosphorylation defects
-
R. Van Coster, J. Smet, E. George, L. De Meirleir, S. Seneca, J. Van Hove, G. Sebire, H. Verhelst, J. De Bleecker, B. Van Vlem, P. Verloo, and J. Leroy Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects Pediatr. Res. 50 2001 658 665
-
(2001)
Pediatr. Res.
, vol.50
, pp. 658-665
-
-
Van Coster, R.1
Smet, J.2
George, E.3
De Meirleir, L.4
Seneca, S.5
Van Hove, J.6
Sebire, G.7
Verhelst, H.8
De Bleecker, J.9
Van Vlem, B.10
Verloo, P.11
Leroy, J.12
-
11
-
-
83155163844
-
A catalytic defect in mitochondrial respiratory chain complex i due to a mutation in NDUFS2 in a patient with Leigh syndrome
-
L.H. Ngu, L.G. Nijtmans, F. Distelmaier, H. Venselaar, S.E. van Emst-de Vries, M.A. van den Brand, B.J. Stoltenborg, L.T. Wintjes, P.H. Willems, L.P. van den Heuvel, J.A. Smeitink, and R.J. Rodenburg A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome Biochim. Biophys. Acta 1822 2012 168 175
-
(2012)
Biochim. Biophys. Acta
, vol.1822
, pp. 168-175
-
-
Ngu, L.H.1
Nijtmans, L.G.2
Distelmaier, F.3
Venselaar, H.4
Van Emst-De Vries, S.E.5
Van Den Brand, M.A.6
Stoltenborg, B.J.7
Wintjes, L.T.8
Willems, P.H.9
Van Den Heuvel, L.P.10
Smeitink, J.A.11
Rodenburg, R.J.12
-
12
-
-
84865771586
-
NDUFA4 is a subunit of complex IV of the mammalian electron transport chain
-
E. Balsa, R. Marco, E. Perales-Clemente, R. Szklarczyk, E. Calvo, M.O. Landazuri, and J.A. Enriquez NDUFA4 is a subunit of complex IV of the mammalian electron transport chain Cell Metab. 16 2012 378 386
-
(2012)
Cell Metab.
, vol.16
, pp. 378-386
-
-
Balsa, E.1
Marco, R.2
Perales-Clemente, E.3
Szklarczyk, R.4
Calvo, E.5
Landazuri, M.O.6
Enriquez, J.A.7
-
13
-
-
84879796991
-
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease
-
R.D. Pitceathly, S. Rahman, Y. Wedatilake, J.M. Polke, S. Cirak, A.R. Foley, A. Sailer, M.E. Hurles, J. Stalker, I. Hargreaves, C.E. Woodward, M.G. Sweeney, F. Muntoni, H. Houlden, J.W. Taanman, M.G. Hanna, and U.K. Consortium NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease Cell Rep. 3 2013 1795 1805
-
(2013)
Cell Rep.
, vol.3
, pp. 1795-1805
-
-
Pitceathly, R.D.1
Rahman, S.2
Wedatilake, Y.3
Polke, J.M.4
Cirak, S.5
Foley, A.R.6
Sailer, A.7
Hurles, M.E.8
Stalker, J.9
Hargreaves, I.10
Woodward, C.E.11
Sweeney, M.G.12
Muntoni, F.13
Houlden, H.14
Taanman, J.W.15
Hanna, M.G.16
Consortium, U.K.17
-
14
-
-
84936756860
-
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex i instability
-
C. Angebault, M. Charif, N. Guegen, C. Piro-Megy, B. Mousson de Camaret, V. Procaccio, P.O. Guichet, M. Hebrard, G. Manes, N. Leboucq, F. Rivier, C.P. Hamel, G. Lenaers, and A. Roubertie Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability Hum. Mol. Genet. 24 2015 3948 3955
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 3948-3955
-
-
Angebault, C.1
Charif, M.2
Guegen, N.3
Piro-Megy, C.4
Mousson De Camaret, B.5
Procaccio, V.6
Guichet, P.O.7
Hebrard, M.8
Manes, G.9
Leboucq, N.10
Rivier, F.11
Hamel, C.P.12
Lenaers, G.13
Roubertie, A.14
-
15
-
-
84939467892
-
Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy
-
B.M. Shehata, C.A. Cundiff, K. Lee, A. Sabharwal, M.K. Lalwani, A.K. Davis, V. Agrawal, S. Sivasubbu, G.J. Iannucci, and G. Gibson Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy Am. J. Med. Genet. A 167 2015 2114 2121
-
(2015)
Am. J. Med. Genet. A
, vol.167
, pp. 2114-2121
-
-
Shehata, B.M.1
Cundiff, C.A.2
Lee, K.3
Sabharwal, A.4
Lalwani, M.K.5
Davis, A.K.6
Agrawal, V.7
Sivasubbu, S.8
Iannucci, G.J.9
Gibson, G.10
-
16
-
-
84915761829
-
Architecture of mammalian respiratory complex i
-
K.R. Vinothkumar, J. Zhu, and J. Hirst Architecture of mammalian respiratory complex I Nature 515 2014 80 84
-
(2014)
Nature
, vol.515
, pp. 80-84
-
-
Vinothkumar, K.R.1
Zhu, J.2
Hirst, J.3
-
17
-
-
84942879598
-
Structure of subcomplex Ibeta of mammalian respiratory complex i leads to new supernumerary subunit assignments
-
J. Zhu, M.S. King, M. Yu, L. Klipcan, A.G. Leslie, and J. Hirst Structure of subcomplex Ibeta of mammalian respiratory complex I leads to new supernumerary subunit assignments Proc. Natl. Acad. Sci. U. S. A. 112 2015 12087 12092
-
(2015)
Proc. Natl. Acad. Sci. U. S. A.
, vol.112
, pp. 12087-12092
-
-
Zhu, J.1
King, M.S.2
Yu, M.3
Klipcan, L.4
Leslie, A.G.5
Hirst, J.6
-
18
-
-
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
-
19
-
-
84878944307
-
NUBPL mutations in patients with complex i deficiency and a distinct MRI pattern
-
S.H. Kevelam, R.J. Rodenburg, N.I. Wolf, P. Ferreira, R.J. Lunsing, L.G. Nijtmans, A. Mitchell, H.A. Arroyo, D. Rating, A. Vanderver, C.G. van Berkel, T.E. Abbink, P. Heutink, and M.S. van der Knaap NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern Neurology 80 2013 1577 1583
-
(2013)
Neurology
, vol.80
, pp. 1577-1583
-
-
Kevelam, S.H.1
Rodenburg, R.J.2
Wolf, N.I.3
Ferreira, P.4
Lunsing, R.J.5
Nijtmans, L.G.6
Mitchell, A.7
Arroyo, H.A.8
Rating, D.9
Vanderver, A.10
Van Berkel, C.G.11
Abbink, T.E.12
Heutink, P.13
Van Der Knaap, M.S.14
-
20
-
-
84887025413
-
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
-
O. Ortega-Recalde, D.J. Fonseca, L.C. Patino, J.J. Atuesta, C. Rivera-Nieto, C.M. Restrepo, H.E. Mateus, M.S. van der Knaap, and P. Laissue A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations Mitochondrion 13 2013 749 754
-
(2013)
Mitochondrion
, vol.13
, pp. 749-754
-
-
Ortega-Recalde, O.1
Fonseca, D.J.2
Patino, L.C.3
Atuesta, J.J.4
Rivera-Nieto, C.5
Restrepo, C.M.6
Mateus, H.E.7
Van Der Knaap, M.S.8
Laissue, P.9
-
21
-
-
84866742942
-
Natural disease course and genotype-phenotype correlations in Complex i deficiency caused by nuclear gene defects: What we learned from 130 cases
-
S. Koene, R.J. Rodenburg, M.S. van der Knaap, M.A. Willemsen, W. Sperl, V. Laugel, E. Ostergaard, M. Tarnopolsky, M.A. Martin, V. Nesbitt, J. Fletcher, S. Edvardson, V. Procaccio, A. Slama, L.P. van den Heuvel, and J.A. Smeitink Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases J. Inherit. Metab. Dis. 35 2012 737 747
-
(2012)
J. Inherit. Metab. Dis.
, vol.35
, pp. 737-747
-
-
Koene, S.1
Rodenburg, R.J.2
Van Der Knaap, M.S.3
Willemsen, M.A.4
Sperl, W.5
Laugel, V.6
Ostergaard, E.7
Tarnopolsky, M.8
Martin, M.A.9
Nesbitt, V.10
Fletcher, J.11
Edvardson, S.12
Procaccio, V.13
Slama, A.14
Van Den Heuvel, L.P.15
Smeitink, J.A.16
-
22
-
-
84856082400
-
Mitochondrial complex i deficiency of nuclear origin I. Structural genes
-
H. Pagniez-Mammeri, S. Loublier, A. Legrand, P. Benit, P. Rustin, and A. Slama Mitochondrial complex I deficiency of nuclear origin I. Structural genes Mol. Genet. Metab. 105 2012 163 172
-
(2012)
Mol. Genet. Metab.
, vol.105
, pp. 163-172
-
-
Pagniez-Mammeri, H.1
Loublier, S.2
Legrand, A.3
Benit, P.4
Rustin, P.5
Slama, A.6
-
24
-
-
0029985716
-
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
-
S. Rahman, R.B. Blok, H.H. Dahl, D.M. Danks, D.M. Kirby, C.W. Chow, J. Christodoulou, and D.R. Thorburn Leigh syndrome: clinical features and biochemical and DNA abnormalities Ann. Neurol. 39 1996 343 351
-
(1996)
Ann. Neurol.
, vol.39
, pp. 343-351
-
-
Rahman, S.1
Blok, R.B.2
Dahl, H.H.3
Danks, D.M.4
Kirby, D.M.5
Chow, C.W.6
Christodoulou, J.7
Thorburn, D.R.8
-
27
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
D.C. Wallace, G. Singh, M.T. Lott, J.A. Hodge, T.G. Schurr, A.M. Lezza, L.J. Elsas 2nd, and E.K. Nikoskelainen Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Science 242 1988 1427 1430
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
Elsas, L.J.7
Nikoskelainen, E.K.8
-
28
-
-
78649962110
-
Mitochondrial DNA 11777C > A mutation associated Leigh syndrome: Case report with a review of the previously described pedigrees
-
K. Hadzsiev, A. Maasz, P. Kisfali, E. Kalman, E. Gomori, E. Pal, E. Berenyi, K. Komlosi, and B. Melegh Mitochondrial DNA 11777C > A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees Neuromol. Med. 12 2010 277 284
-
(2010)
Neuromol. Med.
, vol.12
, pp. 277-284
-
-
Hadzsiev, K.1
Maasz, A.2
Kisfali, P.3
Kalman, E.4
Gomori, E.5
Pal, E.6
Berenyi, E.7
Komlosi, K.8
Melegh, B.9
-
29
-
-
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
-
30
-
-
34548218295
-
Homoplasmy, heteroplasmy, and mitochondrial dystonia
-
R. McFarland, P.F. Chinnery, E.L. Blakely, A.M. Schaefer, A.A. Morris, S.M. Foster, H.A. Tuppen, V. Ramesh, P.J. Dorman, D.M. Turnbull, and R.W. Taylor Homoplasmy, heteroplasmy, and mitochondrial dystonia Neurology 69 2007 911 916
-
(2007)
Neurology
, vol.69
, pp. 911-916
-
-
McFarland, R.1
Chinnery, P.F.2
Blakely, E.L.3
Schaefer, A.M.4
Morris, A.A.5
Foster, S.M.6
Tuppen, H.A.7
Ramesh, V.8
Dorman, P.J.9
Turnbull, D.M.10
Taylor, R.W.11
-
31
-
-
0029166941
-
Leber's «plus»: Neurological abnormalities in patients with Leber's hereditary optic neuropathy
-
E.K. Nikoskelainen, R.J. Marttila, K. Huoponen, V. Juvonen, T. Lamminen, P. Sonninen, and M.L. Savontaus Leber's «plus»: neurological abnormalities in patients with Leber's hereditary optic neuropathy J. Neurol. Neurosurg. Psychiatry 59 1995 160 164
-
(1995)
J. Neurol. Neurosurg. Psychiatry
, vol.59
, pp. 160-164
-
-
Nikoskelainen, E.K.1
Marttila, R.J.2
Huoponen, K.3
Juvonen, V.4
Lamminen, T.5
Sonninen, P.6
Savontaus, M.L.7
-
32
-
-
28144454984
-
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
-
G. Hudson, S. Keers, P. Yu Wai Man, P. Griffiths, K. Huoponen, M.L. Savontaus, E. Nikoskelainen, M. Zeviani, F. Carrara, R. Horvath, V. Karcagi, L. Spruijt, I.F. de Coo, H.J. Smeets, and P.F. Chinnery Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder Am. J. Hum. Genet. 77 2005 1086 1091
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 1086-1091
-
-
Hudson, G.1
Keers, S.2
Man, P.Y.W.3
Griffiths, P.4
Huoponen, K.5
Savontaus, M.L.6
Nikoskelainen, E.7
Zeviani, M.8
Carrara, F.9
Horvath, R.10
Karcagi, V.11
Spruijt, L.12
De Coo, I.F.13
Smeets, H.J.14
Chinnery, P.F.15
-
33
-
-
0035132566
-
A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice
-
K.R. Johnson, Q.Y. Zheng, Y. Bykhovskaya, O. Spirina, and N. Fischel-Ghodsian A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice Nat. Genet. 27 2001 191 194
-
(2001)
Nat. Genet.
, vol.27
, pp. 191-194
-
-
Johnson, K.R.1
Zheng, Q.Y.2
Bykhovskaya, Y.3
Spirina, O.4
Fischel-Ghodsian, N.5
-
34
-
-
79551638162
-
Mitochondrial optic neuropathies - Disease mechanisms and therapeutic strategies
-
P. Yu-Wai-Man, P.G. Griffiths, and P.F. Chinnery Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies Prog. Retin. Eye Res. 30 2011 81 114
-
(2011)
Prog. Retin. Eye Res.
, vol.30
, pp. 81-114
-
-
Yu-Wai-Man, P.1
Griffiths, P.G.2
Chinnery, P.F.3
-
35
-
-
84969669367
-
-
R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens
-
S. DiMauro, M. Hirano, and Melas R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.T. Fong, H.C. Mefford, R.J.H. Smith, K. Stephens, Gene Reviews(R), Seattle (WA) 1993
-
(1993)
Gene Reviews(R), Seattle (WA)
-
-
DiMauro, S.1
Hirano, M.2
Melas3
-
36
-
-
32944470243
-
Sequence variation in mitochondrial complex i genes: Mutation or polymorphism?
-
A.L. Mitchell, J.L. Elson, N. Howell, R.W. Taylor, and D.M. Turnbull Sequence variation in mitochondrial complex I genes: mutation or polymorphism? J. Med. Genet. 43 2006 175 179
-
(2006)
J. Med. Genet.
, vol.43
, pp. 175-179
-
-
Mitchell, A.L.1
Elson, J.L.2
Howell, N.3
Taylor, R.W.4
Turnbull, D.M.5
-
37
-
-
84863012272
-
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
-
S.E. Calvo, A.G. Compton, S.G. Hershman, S.C. Lim, D.S. Lieber, E.J. Tucker, A. Laskowski, C. Garone, S. Liu, D.B. Jaffe, J. Christodoulou, J.M. Fletcher, D.L. Bruno, J. Goldblatt, S. Dimauro, D.R. Thorburn, and V.K. Mootha Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing Sci. Transl. Med. 4 2012 118ra110
-
(2012)
Sci. Transl. Med.
, vol.4
, pp. 118ra110
-
-
Calvo, S.E.1
Compton, A.G.2
Hershman, S.G.3
Lim, S.C.4
Lieber, D.S.5
Tucker, E.J.6
Laskowski, A.7
Garone, C.8
Liu, S.9
Jaffe, D.B.10
Christodoulou, J.11
Fletcher, J.M.12
Bruno, D.L.13
Goldblatt, J.14
Dimauro, S.15
Thorburn, D.R.16
Mootha, V.K.17
-
38
-
-
84895550344
-
Diagnosis and molecular basis of mitochondrial respiratory chain disorders: Exome sequencing for disease gene identification
-
A. Ohtake, K. Murayama, M. Mori, H. Harashima, T. Yamazaki, S. Tamaru, Y. Yamashita, Y. Kishita, Y. Nakachi, M. Kohda, Y. Tokuzawa, Y. Mizuno, Y. Moriyama, H. Kato, and Y. Okazaki Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification Biochim. Biophys. Acta 1840 2014 1355 1359
-
(2014)
Biochim. Biophys. Acta
, vol.1840
, pp. 1355-1359
-
-
Ohtake, A.1
Murayama, K.2
Mori, M.3
Harashima, H.4
Yamazaki, T.5
Tamaru, S.6
Yamashita, Y.7
Kishita, Y.8
Nakachi, Y.9
Kohda, M.10
Tokuzawa, Y.11
Mizuno, Y.12
Moriyama, Y.13
Kato, H.14
Okazaki, Y.15
-
39
-
-
84903618205
-
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
-
R.W. Taylor, A. Pyle, H. Griffin, E.L. Blakely, J. Duff, L. He, T. Smertenko, C.L. Alston, V.C. Neeve, A. Best, J.W. Yarham, J. Kirschner, U. Schara, B. Talim, H. Topaloglu, I. Baric, E. Holinski-Feder, A. Abicht, B. Czermin, S. Kleinle, A.A. Morris, G. Vassallo, G.S. Gorman, V. Ramesh, D. Turnbull, M. Santibanez-Koref, R. McFarland, R. Horvath, and P.F. Chinnery Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies JAMA 312 2014 68 77
-
(2014)
JAMA
, vol.312
, pp. 68-77
-
-
Taylor, R.W.1
Pyle, A.2
Griffin, H.3
Blakely, E.L.4
Duff, J.5
He, L.6
Smertenko, T.7
Alston, C.L.8
Neeve, V.C.9
Best, A.10
Yarham, J.W.11
Kirschner, J.12
Schara, U.13
Talim, B.14
Topaloglu, H.15
Baric, I.16
Holinski-Feder, E.17
Abicht, A.18
Czermin, B.19
Kleinle, S.20
Morris, A.A.21
Vassallo, G.22
Gorman, G.S.23
Ramesh, V.24
Turnbull, D.25
Santibanez-Koref, M.26
McFarland, R.27
Horvath, R.28
Chinnery, P.F.29
more..
-
40
-
-
84940009155
-
Whole exome sequencing of suspected mitochondrial patients in clinical practice
-
S.B. Wortmann, D.A. Koolen, J.A. Smeitink, L. van den Heuvel, and R.J. Rodenburg Whole exome sequencing of suspected mitochondrial patients in clinical practice J. Inherit. Metab. Dis. 38 2015 437 443
-
(2015)
J. Inherit. Metab. Dis.
, vol.38
, pp. 437-443
-
-
Wortmann, S.B.1
Koolen, D.A.2
Smeitink, J.A.3
Van Den Heuvel, L.4
Rodenburg, R.J.5
-
41
-
-
79956269130
-
Cellular rescue-assay AIDS verification of causative DNA-variants in mitochondrial complex i deficiency
-
K. Danhauser, A. Iuso, T.B. Haack, P. Freisinger, K. Brockmann, J.A. Mayr, T. Meitinger, and H. Prokisch Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency Mol. Genet. Metab. 103 2011 161 166
-
(2011)
Mol. Genet. Metab.
, vol.103
, pp. 161-166
-
-
Danhauser, K.1
Iuso, A.2
Haack, T.B.3
Freisinger, P.4
Brockmann, K.5
Mayr, J.A.6
Meitinger, T.7
Prokisch, H.8
-
42
-
-
10644277096
-
Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects
-
L.P. van den Heuvel, J.A. Smeitink, and R.J. Rodenburg Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects Mitochondrion 4 2004 395 401
-
(2004)
Mitochondrion
, vol.4
, pp. 395-401
-
-
Van Den Heuvel, L.P.1
Smeitink, J.A.2
Rodenburg, R.J.3
-
43
-
-
84892763383
-
Mitochondria: Mitochondrial OXPHOS (dys) function ex vivo - The use of primary fibroblasts
-
A. Saada Mitochondria: mitochondrial OXPHOS (dys) function ex vivo - the use of primary fibroblasts Int. J. Biochem. Cell Biol. 48 2014 60 65
-
(2014)
Int. J. Biochem. Cell Biol.
, vol.48
, pp. 60-65
-
-
Saada, A.1
-
44
-
-
84864082138
-
Molecular diagnosis in mitochondrial complex i deficiency using exome sequencing
-
T.B. Haack, B. Haberberger, E.M. Frisch, T. Wieland, A. Iuso, M. Gorza, V. Strecker, E. Graf, J.A. Mayr, U. Herberg, J.B. Hennermann, T. Klopstock, K.A. Kuhn, U. Ahting, W. Sperl, E. Wilichowski, G.F. Hoffmann, M. Tesarova, H. Hansikova, J. Zeman, B. Plecko, M. Zeviani, I. Wittig, T.M. Strom, M. Schuelke, P. Freisinger, T. Meitinger, and H. Prokisch Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing J. Med. Genet. 49 2012 277 283
-
(2012)
J. Med. Genet.
, vol.49
, pp. 277-283
-
-
Haack, T.B.1
Haberberger, B.2
Frisch, E.M.3
Wieland, T.4
Iuso, A.5
Gorza, M.6
Strecker, V.7
Graf, E.8
Mayr, J.A.9
Herberg, U.10
Hennermann, J.B.11
Klopstock, T.12
Kuhn, K.A.13
Ahting, U.14
Sperl, W.15
Wilichowski, E.16
Hoffmann, G.F.17
Tesarova, M.18
Hansikova, H.19
Zeman, J.20
Plecko, B.21
Zeviani, M.22
Wittig, I.23
Strom, T.M.24
Schuelke, M.25
Freisinger, P.26
Meitinger, T.27
Prokisch, H.28
more..
-
45
-
-
84947613905
-
Human genotype-phenotype databases: Aims, challenges and opportunities
-
A.J. Brookes, and P.N. Robinson Human genotype-phenotype databases: aims, challenges and opportunities Nat. Rev. Genet. 2015
-
(2015)
Nat. Rev. Genet.
-
-
Brookes, A.J.1
Robinson, P.N.2
-
46
-
-
84904465224
-
Genome sequencing identifies major causes of severe intellectual disability
-
C. Gilissen, J.Y. Hehir-Kwa, D.T. Thung, M. van de Vorst, B.W. van Bon, M.H. Willemsen, M. Kwint, I.M. Janssen, A. Hoischen, A. Schenck, R. Leach, R. Klein, R. Tearle, T. Bo, R. Pfundt, H.G. Yntema, B.B. de Vries, T. Kleefstra, H.G. Brunner, L.E. Vissers, and J.A. Veltman Genome sequencing identifies major causes of severe intellectual disability Nature 2014
-
(2014)
Nature
-
-
Gilissen, C.1
Hehir-Kwa, J.Y.2
Thung, D.T.3
Van De Vorst, M.4
Van Bon, B.W.5
Willemsen, M.H.6
Kwint, M.7
Janssen, I.M.8
Hoischen, A.9
Schenck, A.10
Leach, R.11
Klein, R.12
Tearle, R.13
Bo, T.14
Pfundt, R.15
Yntema, H.G.16
De Vries, B.B.17
Kleefstra, T.18
Brunner, H.G.19
Vissers, L.E.20
Veltman, J.A.21
more..
-
47
-
-
84937727574
-
Comparison of exome and genome sequencing technologies for the complete capture of protein-coding regions
-
S.H. Lelieveld, M. Spielmann, S. Mundlos, J.A. Veltman, and C. Gilissen Comparison of exome and genome sequencing technologies for the complete capture of protein-coding regions Hum. Mutat. 36 2015 815 822
-
(2015)
Hum. Mutat.
, vol.36
, pp. 815-822
-
-
Lelieveld, S.H.1
Spielmann, M.2
Mundlos, S.3
Veltman, J.A.4
Gilissen, C.5
-
48
-
-
84922479528
-
Structural biology. Mechanistic insight from the crystal structure of mitochondrial complex i
-
V. Zickermann, C. Wirth, H. Nasiri, K. Siegmund, H. Schwalbe, C. Hunte, and U. Brandt Structural biology. Mechanistic insight from the crystal structure of mitochondrial complex I Science 347 2015 44 49
-
(2015)
Science
, vol.347
, pp. 44-49
-
-
Zickermann, V.1
Wirth, C.2
Nasiri, H.3
Siegmund, K.4
Schwalbe, H.5
Hunte, C.6
Brandt, U.7
-
49
-
-
65249126910
-
Mitochondrial complex i deficiency: From organelle dysfunction to clinical disease
-
F. Distelmaier, W.J. Koopman, L.P. van den Heuvel, R.J. Rodenburg, E. Mayatepek, P.H. Willems, and J.A. Smeitink Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease Brain 132 2009 833 842
-
(2009)
Brain
, vol.132
, pp. 833-842
-
-
Distelmaier, F.1
Koopman, W.J.2
Van Den Heuvel, L.P.3
Rodenburg, R.J.4
Mayatepek, E.5
Willems, P.H.6
Smeitink, J.A.7
-
50
-
-
1842338036
-
Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex i deficiency
-
X. Luo, S. Pitkanen, S. Kassovska-Bratinova, B.H. Robinson, and D.C. Lehotay Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency J. Clin. Invest. 99 1997 2877 2882
-
(1997)
J. Clin. Invest.
, vol.99
, pp. 2877-2882
-
-
Luo, X.1
Pitkanen, S.2
Kassovska-Bratinova, S.3
Robinson, B.H.4
Lehotay, D.C.5
-
51
-
-
33847031295
-
Superoxide production is inversely related to complex i activity in inherited complex i deficiency
-
S. Verkaart, W.J. Koopman, S.E. van Emst-de Vries, L.G. Nijtmans, L.W. van den Heuvel, J.A. Smeitink, and P.H. Willems Superoxide production is inversely related to complex I activity in inherited complex I deficiency Biochim. Biophys. Acta 1772 2007 373 381
-
(2007)
Biochim. Biophys. Acta
, vol.1772
, pp. 373-381
-
-
Verkaart, S.1
Koopman, W.J.2
Van Emst-De Vries, S.E.3
Nijtmans, L.G.4
Van Den Heuvel, L.W.5
Smeitink, J.A.6
Willems, P.H.7
-
52
-
-
77952541558
-
The sites and topology of mitochondrial superoxide production
-
M.D. Brand The sites and topology of mitochondrial superoxide production Exp. Gerontol. 45 2010 466 472
-
(2010)
Exp. Gerontol.
, vol.45
, pp. 466-472
-
-
Brand, M.D.1
-
53
-
-
63349087445
-
Tissue-, substrate-, and site-specific characteristics of mitochondrial reactive oxygen species generation
-
E.B. Tahara, F.D. Navarete, and A.J. Kowaltowski Tissue-, substrate-, and site-specific characteristics of mitochondrial reactive oxygen species generation Free Radic. Biol. Med. 46 2009 1283 1297
-
(2009)
Free Radic. Biol. Med.
, vol.46
, pp. 1283-1297
-
-
Tahara, E.B.1
Navarete, F.D.2
Kowaltowski, A.J.3
-
55
-
-
84881375649
-
New treatments for mitochondrial disease-no time to drop our standards
-
G. Pfeffer, R. Horvath, T. Klopstock, V.K. Mootha, A. Suomalainen, S. Koene, M. Hirano, M. Zeviani, L.A. Bindoff, P. Yu-Wai-Man, M. Hanna, V. Carelli, R. McFarland, K. Majamaa, D.M. Turnbull, J. Smeitink, and P.F. Chinnery New treatments for mitochondrial disease-no time to drop our standards Nat. Rev. Neurol. 9 2013 474 481
-
(2013)
Nat. Rev. Neurol.
, vol.9
, pp. 474-481
-
-
Pfeffer, G.1
Horvath, R.2
Klopstock, T.3
Mootha, V.K.4
Suomalainen, A.5
Koene, S.6
Hirano, M.7
Zeviani, M.8
Bindoff, L.A.9
Yu-Wai-Man, P.10
Hanna, M.11
Carelli, V.12
McFarland, R.13
Majamaa, K.14
Turnbull, D.M.15
Smeitink, J.16
Chinnery, P.F.17
-
56
-
-
80052958201
-
Idebenone treatment in Leber's hereditary optic neuropathy
-
V. Carelli, C. La Morgia, M.L. Valentino, G. Rizzo, M. Carbonelli, A.M. De Negri, F. Sadun, A. Carta, S. Guerriero, F. Simonelli, A.A. Sadun, D. Aggarwal, R. Liguori, P. Avoni, A. Baruzzi, M. Zeviani, P. Montagna, and P. Barboni Idebenone treatment in Leber's hereditary optic neuropathy Brain 134 2011 e188
-
(2011)
Brain
, vol.134
-
-
Carelli, V.1
La Morgia, C.2
Valentino, M.L.3
Rizzo, G.4
Carbonelli, M.5
De Negri, A.M.6
Sadun, F.7
Carta, A.8
Guerriero, S.9
Simonelli, F.10
Sadun, A.A.11
Aggarwal, D.12
Liguori, R.13
Avoni, P.14
Baruzzi, A.15
Zeviani, M.16
Montagna, P.17
Barboni, P.18
-
57
-
-
80052959702
-
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
-
T. Klopstock, P. Yu-Wai-Man, K. Dimitriadis, J. Rouleau, S. Heck, M. Bailie, A. Atawan, S. Chattopadhyay, M. Schubert, A. Garip, M. Kernt, D. Petraki, C. Rummey, M. Leinonen, G. Metz, P.G. Griffiths, T. Meier, and P.F. Chinnery A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy Brain 134 2011 2677 2686
-
(2011)
Brain
, vol.134
, pp. 2677-2686
-
-
Klopstock, T.1
Yu-Wai-Man, P.2
Dimitriadis, K.3
Rouleau, J.4
Heck, S.5
Bailie, M.6
Atawan, A.7
Chattopadhyay, S.8
Schubert, M.9
Garip, A.10
Kernt, M.11
Petraki, D.12
Rummey, C.13
Leinonen, M.14
Metz, G.15
Griffiths, P.G.16
Meier, T.17
Chinnery, P.F.18
-
58
-
-
4644326685
-
2 + handling in human complex i deficiency
-
2 + handling in human complex I deficiency J. Biol. Chem. 279 2004 40328 40336
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 40328-40336
-
-
Visch, H.J.1
Rutter, G.A.2
Koopman, W.J.3
Koenderink, J.B.4
Verkaart, S.5
De Groot, T.6
Varadi, A.7
Mitchell, K.J.8
Van Den Heuvel, L.P.9
Smeitink, J.A.10
Willems, P.H.11
-
59
-
-
84938519460
-
The ins and outs of mitochondrial calcium
-
T. Finkel, S. Menazza, K.M. Holmstrom, R.J. Parks, J. Liu, J. Sun, J. Liu, X. Pan, and E. Murphy The ins and outs of mitochondrial calcium Circ. Res. 116 2015 1810 1819
-
(2015)
Circ. Res.
, vol.116
, pp. 1810-1819
-
-
Finkel, T.1
Menazza, S.2
Holmstrom, K.M.3
Parks, R.J.4
Liu, J.5
Sun, J.6
Liu, J.7
Pan, X.8
Murphy, E.9
-
60
-
-
80051946060
-
Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter
-
J.M. Baughman, F. Perocchi, H.S. Girgis, M. Plovanich, C.A. Belcher-Timme, Y. Sancak, X.R. Bao, L. Strittmatter, O. Goldberger, R.L. Bogorad, V. Koteliansky, and V.K. Mootha Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter Nature 476 2011 341 345
-
(2011)
Nature
, vol.476
, pp. 341-345
-
-
Baughman, J.M.1
Perocchi, F.2
Girgis, H.S.3
Plovanich, M.4
Belcher-Timme, C.A.5
Sancak, Y.6
Bao, X.R.7
Strittmatter, L.8
Goldberger, O.9
Bogorad, R.L.10
Koteliansky, V.11
Mootha, V.K.12
-
61
-
-
80051936634
-
A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter
-
D. De Stefani, A. Raffaello, E. Teardo, I. Szabo, and R. Rizzuto A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter Nature 476 2011 336 340
-
(2011)
Nature
, vol.476
, pp. 336-340
-
-
De Stefani, D.1
Raffaello, A.2
Teardo, E.3
Szabo, I.4
Rizzuto, R.5
-
62
-
-
84890116192
-
EMRE is an essential component of the mitochondrial calcium uniporter complex
-
Y. Sancak, A.L. Markhard, T. Kitami, E. Kovacs-Bogdan, K.J. Kamer, N.D. Udeshi, S.A. Carr, D. Chaudhuri, D.E. Clapham, A.A. Li, S.E. Calvo, O. Goldberger, and V.K. Mootha EMRE is an essential component of the mitochondrial calcium uniporter complex Science 342 2013 1379 1382
-
(2013)
Science
, vol.342
, pp. 1379-1382
-
-
Sancak, Y.1
Markhard, A.L.2
Kitami, T.3
Kovacs-Bogdan, E.4
Kamer, K.J.5
Udeshi, N.D.6
Carr, S.A.7
Chaudhuri, D.8
Clapham, D.E.9
Li, A.A.10
Calvo, S.E.11
Goldberger, O.12
Mootha, V.K.13
-
63
-
-
0027340729
-
2 + close to IP3-sensitive channels that are sensed by neighboring mitochondria
-
2 + close to IP3-sensitive channels that are sensed by neighboring mitochondria Science 262 1993 744 747
-
(1993)
Science
, vol.262
, pp. 744-747
-
-
Rizzuto, R.1
Brini, M.2
Murgia, M.3
Pozzan, T.4
-
65
-
-
84923111986
-
Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning
-
L. Blanchet, J.A. Smeitink, S.E. van Emst-de Vries, C. Vogels, M. Pellegrini, A.I. Jonckheere, R.J. Rodenburg, L.M. Buydens, J. Beyrath, P.H. Willems, and W.J. Koopman Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning Sci. Rep. 5 2015 8035
-
(2015)
Sci. Rep.
, vol.5
, pp. 8035
-
-
Blanchet, L.1
Smeitink, J.A.2
Van Emst-De Vries, S.E.3
Vogels, C.4
Pellegrini, M.5
Jonckheere, A.I.6
Rodenburg, R.J.7
Buydens, L.M.8
Beyrath, J.9
Willems, P.H.10
Koopman, W.J.11
-
66
-
-
84940003378
-
Toward high-content screening of mitochondrial morphology and membrane potential in living cells
-
E.F. Iannetti, P.H. Willems, M. Pellegrini, J. Beyrath, J.A. Smeitink, L. Blanchet, and W.J. Koopman Toward high-content screening of mitochondrial morphology and membrane potential in living cells Int. J. Biochem. Cell Biol. 63 2015 66 70
-
(2015)
Int. J. Biochem. Cell Biol.
, vol.63
, pp. 66-70
-
-
Iannetti, E.F.1
Willems, P.H.2
Pellegrini, M.3
Beyrath, J.4
Smeitink, J.A.5
Blanchet, L.6
Koopman, W.J.7
|