-
1
-
-
58149337082
-
Role of the mitochondrial sodium/calcium exchanger in neuronal physiology and in the pathogenesis of neurological diseases
-
P. Castaldo, M. Cataldi, S. Magi, V. Lariccia, S. Arcangeli, and S. Amoroso Role of the mitochondrial sodium/calcium exchanger in neuronal physiology and in the pathogenesis of neurological diseases Prog Neurobiol 87 2009 58 79
-
(2009)
Prog Neurobiol
, vol.87
, pp. 58-79
-
-
Castaldo, P.1
Cataldi, M.2
Magi, S.3
Lariccia, V.4
Arcangeli, S.5
Amoroso, S.6
-
2
-
-
0036221686
-
The role of mitochondria in epileptiogenesis
-
W.S. Kunz The role of mitochondria in epileptiogenesis Curr Opin Neurol 15 2002 179 184
-
(2002)
Curr Opin Neurol
, vol.15
, pp. 179-184
-
-
Kunz, W.S.1
-
3
-
-
45149106917
-
Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies
-
DOI 10.1055/s-2008-1076737
-
D.S. Khurana, L. Salganicoff, and J.J. Melvin Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies Neuropediatrics 39 2008 8 13 (Pubitemid 351828310)
-
(2008)
Neuropediatrics
, vol.39
, Issue.1
, pp. 8-13
-
-
Khurana, D.S.1
Salganicoff, L.2
Melvin, J.J.3
Hobdell, E.F.4
Valencia, I.5
Hardison, H.H.6
Marks, H.G.7
Grover, W.D.8
Legido, A.9
-
4
-
-
0032620538
-
Mitochondrial genes for generalized epilepsies
-
S. DiMauro, R. Kulikova, K. Tanji, E. Bonilla, and M. Hirano Mitochondrial genes for generalized epilepsies Adv Neurol 79 1999 411 419
-
(1999)
Adv Neurol
, vol.79
, pp. 411-419
-
-
Dimauro, S.1
Kulikova, R.2
Tanji, K.3
Bonilla, E.4
Hirano, M.5
-
5
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
-
J.M. Shoffner, M.T. Lott, A.M. Lezza, P. Seibel, S.W. Ballinger, and D.C. Wallace Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation Cell 61 1990 931 937
-
(1990)
Cell
, vol.61
, pp. 931-937
-
-
Shoffner, J.M.1
Lott, M.T.2
Lezza, A.M.3
Seibel, P.4
Ballinger, S.W.5
Wallace, D.C.6
-
6
-
-
0024428794
-
Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies
-
N. So, S. Berkovic, F. Andermann, R. Kuzniecky, D. Gendron, and L.F. Quesney Myoclonic epilepsy and ragged-red fibers (MERRF) 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies Brain 112 1989 1261 1276 (Pubitemid 19246376)
-
(1989)
Brain
, vol.112
, Issue.5
, pp. 1261-1276
-
-
So, N.1
Berkovic, S.2
Andermann, F.3
Kuzniecky, R.4
Gendron, D.5
Quesney, L.F.6
-
7
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
-
S.G. Pavlakis, P.C. Phillips, S. DiMauro, D.C. De Vivo, and L.P. Rowland Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome Ann Neurol 16 1984 481 488 (Pubitemid 14021826)
-
(1984)
Annals of Neurology
, vol.16
, Issue.4
, pp. 481-488
-
-
Pavlakis, S.G.1
Phillips, P.C.2
DiMauro, S.3
-
8
-
-
0242467998
-
Infantile Spasms with Basal Ganglia MRI Hypersignal May Reveal Mitochondrial Disorder Due to T8993G MT DNA Mutation
-
DOI 10.1055/s-2003-43258
-
I. Desguerre, F. Pinton, and R. Nabbout Infantile spasms with basal ganglion MRI hypersignal may reveal mitochondrial disorders due to T8993G MT DNA mutation Neuropediatrics 34 2003 265 269 (Pubitemid 37411734)
-
(2003)
Neuropediatrics
, vol.34
, Issue.5
, pp. 265-269
-
-
Desguerre, I.1
Pinton, F.2
Nabbout, R.3
Moutard, M.L.4
N'Guyen, S.5
Marsac, C.6
Ponsot, G.7
Dulac, O.8
-
9
-
-
0035933047
-
Epileptic phenotypes associated with mitochondrial disorders
-
L. Canafoglia, S. Franceschetti, and C. Antozzi Epileptic phenotypes associated with mitochondrial disorders Neurology 56 2001 1340 1346 (Pubitemid 32455295)
-
(2001)
Neurology
, vol.56
, Issue.10
, pp. 1340-1346
-
-
Canafoglia, L.1
Franceschetti, S.2
Antozzi, C.3
Carrara, F.4
Farina, L.5
Granata, T.6
Lamantea, E.7
Savoiardo, M.8
Uziel, G.9
Villani, F.10
Zeviani, M.11
Avanzini, G.12
-
10
-
-
34648840669
-
Nonspecific mitochondrial disease with epilepsy in children: Diagnostic approaches and epileptic phenotypes
-
DOI 10.1007/s00381-007-0369-7
-
H.C. Kang, J.W. Kwon, Y.M. Lee, H.D. Kim, H.J. Lee, and S.H. Hahn Nonspecific mitochondrial disease with epilepsy in children: Diagnostic approaches and epileptic phenotypes Childs Nerv Syst 23 2007 1301 1307 (Pubitemid 47456681)
-
(2007)
Child's Nervous System
, vol.23
, Issue.11
, pp. 1301-1307
-
-
Kang, H.-C.1
Kwon, J.W.2
Lee Y.M.Young Mock3
Kim, H.D.4
Lee, H.J.5
Hahn, S.H.6
-
11
-
-
43349098636
-
Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions
-
DOI 10.1111/j.1528-1167.2007.01522.x
-
Y.M. Lee, H.C. Kang, and J.S. Lee Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions Epilepsia 49 2008 685 690 (Pubitemid 351661064)
-
(2008)
Epilepsia
, vol.49
, Issue.4
, pp. 685-690
-
-
Lee, Y.M.1
Kang, H.C.2
Lee, J.S.3
Kim, S.H.4
Kim, E.Y.5
Lee, S.K.6
Slama, A.7
Kim, H.D.8
-
12
-
-
77954477989
-
Epileptic phenotypes in children with respiratory chain disorders
-
S. EI Sabbagh, A.S. Lebre, and N. Bahi-Buisson Epileptic phenotypes in children with respiratory chain disorders Epilepsia 51 2010 1225 1235
-
(2010)
Epilepsia
, vol.51
, pp. 1225-1235
-
-
Ei Sabbagh, S.1
Lebre, A.S.2
Bahi-Buisson, N.3
-
13
-
-
60349130676
-
Respiratory chain complex i deficiency in an infant with Ohtahara syndrome
-
M. Castro-Gago, M.O. Blanco-Barca, C. Gómez-Lado, J. Eirís-Puňal, Y. Campos-González, and J. Arenas-Barbero Respiratory chain complex I deficiency in an infant with Ohtahara syndrome Brain Dev 31 2009 322 325
-
(2009)
Brain Dev
, vol.31
, pp. 322-325
-
-
Castro-Gago, M.1
Blanco-Barca, M.O.2
Gómez-Lado, C.3
Eirís-Puňal, J.4
Campos-González, Y.5
Arenas-Barbero, J.6
-
14
-
-
67649611179
-
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy
-
E. Cesaroni, M. Scarpelli, N. Zamponi, G. Polonara, and M. Zeviani Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy Pediatr Neurol 41 2009 131 134
-
(2009)
Pediatr Neurol
, vol.41
, pp. 131-134
-
-
Cesaroni, E.1
Scarpelli, M.2
Zamponi, N.3
Polonara, G.4
Zeviani, M.5
-
15
-
-
33746336630
-
Landau-Kleffner Syndrome with Mitochondrial Respiratory Chain-Complex I Deficiency
-
DOI 10.1016/j.pediatrneurol.2006.01.012, PII S088789940600083X
-
H.C. Kang, H.D. Kim, Y.M. Lee, and S.H. Han Landau-Kleffner syndrome with mitochondrial respiratory chain-complex I deficiency Pediatr Neurol 35 2006 158 161 (Pubitemid 44109956)
-
(2006)
Pediatric Neurology
, vol.35
, Issue.2
, pp. 158-161
-
-
Kang, H.-C.1
Kim, H.D.2
Lee, Y.M.3
Han, S.H.4
-
16
-
-
37349029409
-
Epilepsia partialis continua and defects in the mitochondrial respiratory chain
-
DOI 10.1016/j.eplepsyres.2007.10.001, PII S0920121107002896
-
A. Riquet, S. Auvin, and J.M. Cuisset Epilepsia partialis continua and defects in the mitochondrial respiratory chain Epilepsy Res 78 2008 1 6 (Pubitemid 350296773)
-
(2008)
Epilepsy Research
, vol.78
, Issue.1
, pp. 1-6
-
-
Riquet, A.1
Auvin, S.2
Cuisset, J.-M.3
Lamblin, M.-D.4
Sablonniere, B.5
Cuvellier, J.-C.6
Soto-Ares, G.7
Maurage, C.-A.8
Vallee, L.9
-
17
-
-
1242292382
-
Spasms in children with definite and probable mitochondrial disease
-
DOI 10.1046/j.1351-5101.2003.00724.x
-
L.G. Sadleir, M.B. Connolly, and D. Applegarth Spasms in children with definite and probable mitochondrial disease Eur J Neurol 11 2004 103 110 (Pubitemid 38230785)
-
(2004)
European Journal of Neurology
, vol.11
, Issue.2
, pp. 103-110
-
-
Sadleir, L.G.1
Connolly, M.B.2
Applegarth, D.3
Hendson, G.4
Clarke, L.5
Rakshi, C.6
Farrell, K.7
-
18
-
-
77649191276
-
A case of Ohtahara syndrome with mitochondrial respiratory chain complex i deficiency
-
J.H. Seo, Y.M. Lee, J.S. Lee, S.H. Kim, and H.D. Kim A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency Brain Dev 32 2010 253 257
-
(2010)
Brain Dev
, vol.32
, pp. 253-257
-
-
Seo, J.H.1
Lee, Y.M.2
Lee, J.S.3
Kim, S.H.4
Kim, H.D.5
-
19
-
-
0038628940
-
Leigh syndrome associated with West syndrome
-
DOI 10.1016/S0387-7604(02)00220-6
-
M. Tsuji, S. Kuroki, and H. Maeda Leigh syndrome associated with West syndrome Brain Dev 25 2003 245 250 (Pubitemid 36593295)
-
(2003)
Brain and Development
, vol.25
, Issue.4
, pp. 245-250
-
-
Tsuji, M.1
Kuroki, S.2
Maeda, H.3
Yoshioka, M.4
Maihara, T.5
Fujii, T.6
Ito, M.7
-
20
-
-
0027049995
-
Oral glucose lactate stimulation test in mitochondrial diseases
-
C.S. Chi, S.C. Mak, W.J. Shian, and C.H. Chen Oral glucose lactate stimulation test in mitochondrial diseases Pediatr Neurol 8 1992 445 449
-
(1992)
Pediatr Neurol
, vol.8
, pp. 445-449
-
-
Chi, C.S.1
Mak, S.C.2
Shian, W.J.3
Chen, C.H.4
-
21
-
-
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 (Pubitemid 35285995)
-
(2002)
Neurology
, vol.59
, Issue.9
, 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
-
22
-
-
0032811737
-
Mitochondrial DNA mutations and mitochondrial dysfunction in epilepsy
-
DOI 10.1111/j.1528-1157.1999.tb00897.x
-
H. Cock, and A.H.V. Schapira Mitochondrial DNA mutations and mitochondrial dysfunction in epilepsy Epilepsia 40 Suppl. 3 1999 33 40 (Pubitemid 29398094)
-
(1999)
Epilepsia
, vol.40
, Issue.SUPPL. 3
, pp. 33-40
-
-
Cock, H.1
Schapira, A.H.V.2
-
24
-
-
0042266280
-
Minimum birth prevalence of mitochondrial respiratory chain disorders in children
-
DOI 10.1093/brain/awg170
-
D. Skladal, J. Halliday, and D.R. Thorburn Minimum birth prevalence of mitochondrial respiratory chain disorders in children Brain 136 2003 1905 1912 (Pubitemid 36917349)
-
(2003)
Brain
, vol.126
, Issue.8
, pp. 1905-1912
-
-
Skladal, D.1
Halliday, J.2
Thorburn, D.R.3
-
25
-
-
77949878549
-
Drugs interfering with mitochondrial disorders
-
J. Finsterer, and L. Segall Drugs interfering with mitochondrial disorders Drug Chem Toxicol 33 2010 138 151
-
(2010)
Drug Chem Toxicol
, vol.33
, pp. 138-151
-
-
Finsterer, J.1
Segall, L.2
|