-
1
-
-
9644274004
-
The epidemiology of mitochondrial disorders-past, present and future
-
Schaefer, A.M., Taylor, R.W., Turnbull, D.M.and Chinnery, P.F. (2004)The epidemiology of mitochondrial disorders-past, present and future. Biochim. Biophys. Acta, 1659, 115-120.
-
(2004)
Biochim. Biophys. Acta
, vol.1659
, pp. 115-120
-
-
Schaefer, A.M.1
Taylor, R.W.2
Turnbull, D.M.3
Chinnery, P.F.4
-
2
-
-
84862180119
-
Mitochondrial disorders overview
-
Pagon, R.A., Bird, T.D., Dolan, C.R., Stephens, K. and Adam, M.P. (eds), University of Washington, Seattle, Seattle (WA)
-
Chinnery, P.F. (1993) Mitochondrial disorders overview. In Pagon, R.A., Bird, T.D., Dolan, C.R., Stephens, K. and Adam, M.P. (eds), GeneReviews™. University of Washington, Seattle, Seattle (WA).
-
(1993)
Gene Reviews™
-
-
Chinnery, P.F.1
-
3
-
-
14244259670
-
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
-
Scaglia, F., Towbin, J.A., Craigen, W.J., Belmont, J.W., Smith, E.O., Neish, S.R., Ware, S.M., Hunter, J.V., Fernbach, S.D., Vladutiu, G.D. et al. (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics, 114, 925-931.
-
(2004)
Pediatrics
, vol.114
, pp. 925-931
-
-
Scaglia, F.1
Towbin, J.A.2
Craigen, W.J.3
Belmont, J.W.4
Smith, E.O.5
Neish, S.R.6
Ware, S.M.7
Hunter, J.V.8
Fernbach, S.D.9
Vladutiu, G.D.10
-
4
-
-
29444455075
-
Drosophila as a model for human neurodegenerative disease
-
Bilen, J. and Bonini, N.M. (2005) Drosophila as a model for human neurodegenerative disease. Annu. Rev. Genet., 39, 153-171.
-
(2005)
Annu. Rev. Genet.
, vol.39
, pp. 153-171
-
-
Bilen, J.1
Bonini, N.M.2
-
5
-
-
77955847105
-
Neurodegenerative models in Drosophila: polyglutamine disorders, Parkinson disease, and amyotrophic lateral sclerosis
-
Ambegaokar, S.S., Roy, B. and Jackson, G.R. (2010) Neurodegenerative models in Drosophila: polyglutamine disorders, Parkinson disease, and amyotrophic lateral sclerosis. Neurobiol. Dis., 40, 29-39.
-
(2010)
Neurobiol. Dis.
, vol.40
, pp. 29-39
-
-
Ambegaokar, S.S.1
Roy, B.2
Jackson, G.R.3
-
6
-
-
0027160708
-
Targeted gene expression as a means of altering cell fates and generating dominant phenotypes
-
Brand, A.H. and Perrimon, N. (1993) Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development, 118, 401-415.
-
(1993)
Development
, vol.118
, pp. 401-415
-
-
Brand, A.H.1
Perrimon, N.2
-
7
-
-
70349782312
-
Extension of Drosophila life span by RNAi of the mitochondrial respiratory chain
-
Copeland, J.M., Cho, J., Lo, T. Jr, Hur, J.H., Bahadorani, S., Arabyan, T., Rabie, J., Soh, J. and Walker, D.W. (2009) Extension of Drosophila life span by RNAi of the mitochondrial respiratory chain. Curr. Biol., 19, 1591-1598.
-
(2009)
Curr. Biol.
, vol.19
, pp. 1591-1598
-
-
Copeland, J.M.1
Cho, J.2
Lo Jr., T.3
Hur, J.H.4
Bahadorani, S.5
Arabyan, T.6
Rabie, J.7
Soh, J.8
Walker, D.W.9
-
8
-
-
84873028465
-
Tricornered/NDR kinase signaling mediates PINK1-directed mitochondrial quality control and tissue maintenance
-
Wu, Z., Sawada, T., Shiba, K., Liu, S., Kanao, T., Takahashi, R., Hattori, N., Imai, Y. and Lu, B. (2013) Tricornered/NDR kinase signaling mediates PINK1-directed mitochondrial quality control and tissue maintenance. Genes Dev., 27, 157-162.
-
(2013)
Genes Dev
, vol.27
, pp. 157-162
-
-
Wu, Z.1
Sawada, T.2
Shiba, K.3
Liu, S.4
Kanao, T.5
Takahashi, R.6
Hattori, N.7
Imai, Y.8
Lu, B.9
-
9
-
-
33746329868
-
Energy converting NADH:quinone oxidoreductase (complex I)
-
Brandt, U. (2006) Energy converting NADH:quinone oxidoreductase (complex I). Annu. Rev. Biochem., 75, 69-92.
-
(2006)
Annu. Rev. Biochem.
, vol.75
, pp. 69-92
-
-
Brandt, U.1
-
10
-
-
0034988212
-
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
-
Bénit, P., Chretien, D., Kadhom, N., de Lonlay-Debeney, P., Cormier-Daire, V., Cabral, A., Peudenier, S., Rustin, P., Munnich, A. and Rötig, A. (2001) Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am. J. Hum. Genet., 68, 1344-1352.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1344-1352
-
-
Bénit, 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
Rötig, A.10
-
11
-
-
16844371604
-
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene
-
Martín, M.A., Blázquez, A., Gutierrez-Solana, L.G., Fernández-Moreira, D., Briones, P., Andreu, A.L., Garesse, R., Campos,Y. and Arenas, J. (2005) Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Arch. Neurol., 62, 659-661.
-
(2005)
Arch. Neurol.
, vol.62
, pp. 659-661
-
-
Martín, M.A.1
Blázquez, A.2
Gutierrez-Solana, L.G.3
Fernández-Moreira, D.4
Briones, P.5
Andreu, A.L.6
Garesse, R.7
Campos, Y.8
Arenas, J.9
-
12
-
-
56249142321
-
Electrophoresis techniques to investigate defects in oxidative phosphorylation
-
Calvaruso, M.A., Smeitink, J. and Nijtmans, L. (2008) Electrophoresis techniques to investigate defects in oxidative phosphorylation. Methods, 46, 281-287.
-
(2008)
Methods
, vol.46
, pp. 281-287
-
-
Calvaruso, M.A.1
Smeitink, J.2
Nijtmans, L.3
-
13
-
-
79954628218
-
Drosophila as a model for age-related impairment in locomotor and other behaviors
-
Jones, M.A. and Grotewiel, M. (2011) Drosophila as a model for age-related impairment in locomotor and other behaviors. Exp. Gerontol., 46, 320-325.
-
(2011)
Exp. Gerontol.
, vol.46
, pp. 320-325
-
-
Jones, M.A.1
Grotewiel, M.2
-
14
-
-
0035782896
-
Neuropathological features of mitochondrial disorders
-
Tanji, K., Kunimatsu, T., Vu, T.H. and Bonilla, E. (2001) Neuropathological features of mitochondrial disorders. Semin. Cell Dev. Biol., 12, 429-439.
-
(2001)
Semin. Cell Dev. Biol.
, vol.12
, pp. 429-439
-
-
Tanji, K.1
Kunimatsu, T.2
Vu, T.H.3
Bonilla, E.4
-
15
-
-
33749000311
-
Local caspase activity directs engulfment of dendrites during pruning
-
Williams, D.W., Kondo, S., Krzyzanowska, A., Hiromi, Y. and Truman, J.W. (2006) Local caspase activity directs engulfment of dendrites during pruning. Nat. Neurosci., 9, 1234-1236.
-
(2006)
Nat. Neurosci.
, vol.9
, pp. 1234-1236
-
-
Williams, D.W.1
Kondo, S.2
Krzyzanowska, A.3
Hiromi, Y.4
Truman, J.W.5
-
16
-
-
33748054049
-
Mitochondrial neurology I: encephalopathies
-
DiMauro, S. and Schon, E.A. (eds), Informa Healthcare
-
Hirano, M. (2006) Mitochondrial neurology I: encephalopathies. In DiMauro, S. and Schon, E.A. (eds), Mitochondrial Medicine. Informa Healthcare.
-
(2006)
Mitochondrial Medicine
-
-
Hirano, M.1
-
17
-
-
0033525773
-
Mitochondrial diseases in man and mouse
-
Wallace, D.C. (1999) Mitochondrial diseases in man and mouse. Science, 283, 1482-1488.
-
(1999)
Science
, vol.283
, pp. 1482-1488
-
-
Wallace, D.C.1
-
18
-
-
35549006420
-
Glial cells as intrinsic components of non-cell-autonomous neurodegenerative disease
-
Lobsiger, C.S. and Cleveland, D.W. (2007) Glial cells as intrinsic components of non-cell-autonomous neurodegenerative disease. Nat. Neurosci., 10, 1355-1360.
-
(2007)
Nat. Neurosci.
, vol.10
, pp. 1355-1360
-
-
Lobsiger, C.S.1
Cleveland, D.W.2
-
19
-
-
74049164709
-
Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond
-
Ilieva, H., Polymenidou, M. and Cleveland, D.W. (2009) Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond. J. Cell Biol., 187, 761-772.
-
(2009)
J. Cell Biol.
, vol.187
, pp. 761-772
-
-
Ilieva, H.1
Polymenidou, M.2
Cleveland, D.W.3
-
20
-
-
18544392423
-
Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila
-
Warrick, J.M., Paulson, H.L., Gray-Board, G.L., Bui, Q.T., Fischbeck, K.H., Pittman, R.N. and Bonini, N.M. (1998) Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila. Cell, 93, 939-949.
-
(1998)
Cell
, vol.93
, pp. 939-949
-
-
Warrick, J.M.1
Paulson, H.L.2
Gray-Board, G.L.3
Bui, Q.T.4
Fischbeck, K.H.5
Pittman, R.N.6
Bonini, N.M.7
-
21
-
-
78649723354
-
Glial fibrillary tangles and JAK/ STAT-mediated glial and neuronal cell death in a Drosophila model of glial tauopathy
-
Colodner, K.J. and Feany, M.B. (2010) Glial fibrillary tangles and JAK/ STAT-mediated glial and neuronal cell death in a Drosophila model of glial tauopathy. J. Neurosci., 30, 16102-16113.
-
(2010)
J. Neurosci.
, vol.30
, pp. 16102-16113
-
-
Colodner, K.J.1
Feany, M.B.2
-
22
-
-
0033967568
-
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects
-
Loeffen, J.L., Smeitink, J.A., Trijbels, J.M., Janssen, A.J., Triepels, R.H., Sengers, R.C. and van den Heuvel, L.P. (2000) Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum. Mutat., 15, 123-134.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 123-134
-
-
Loeffen, J.L.1
Smeitink, J.A.2
Trijbels, J.M.3
Janssen, A.J.4
Triepels, R.H.5
Sengers, R.C.6
van den Heuvel, L.P.7
-
23
-
-
33745988312
-
Neuron-glia metabolic coupling and plasticity
-
Magistretti, P.J. (2006) Neuron-glia metabolic coupling and plasticity. J. Exp. Biol., 209, 2304-2311.
-
(2006)
J. Exp. Biol.
, vol.209
, pp. 2304-2311
-
-
Magistretti, P.J.1
-
24
-
-
32044462033
-
Glial cell biology in Drosophila and vertebrates
-
Freeman, M.R. and Doherty, J. (2006) Glial cell biology in Drosophila and vertebrates. Trends Neurosci., 29, 82-90.
-
(2006)
Trends Neurosci
, vol.29
, pp. 82-90
-
-
Freeman, M.R.1
Doherty, J.2
-
25
-
-
77954638436
-
Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome
-
Quintana, A., Kruse, S.E., Kapur, R.P., Sanz, E. and Palmiter, R.D. (2010) Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome. Proc. Natl. Acad. Sci. USA, 107, 10996-11001.
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 10996-11001
-
-
Quintana, A.1
Kruse, S.E.2
Kapur, R.P.3
Sanz, E.4
Palmiter, R.D.5
-
26
-
-
64549116740
-
Equal numbers of neuronal and nonneuronal cells make the human brain an isometrically scaled-up primate brain
-
Azevedo, F.A.C., Carvalho, L.R.B., Grinberg, L.T., Farfel, J.M., Ferretti, R.E.L., Leite, R.E.P., Jacob Filho, W., Lent, R. and Herculano-Houzel, S. (2009) Equal numbers of neuronal and nonneuronal cells make the human brain an isometrically scaled-up primate brain. J. Comp. Neurol., 513, 532-541
-
(2009)
J. Comp. Neurol.
, vol.513
, pp. 532-541
-
-
Azevedo, F.A.C.1
Carvalho, L.R.B.2
Grinberg, L.T.3
Farfel, J.M.4
Ferretti, R.E.L.5
Leite, R.E.P.6
Jacob Filho, W.7
Lent, R.8
Herculano-Houzel, S.9
|