-
1
-
-
0027314930
-
Progressive myoclonus epilepsies: Clinical and genetic aspects
-
Berkovic SF, Cochius J, Andermann E, et al. Progressive myoclonus epilepsies: clinical and genetic aspects. Epilepsia 1993; 34(Suppl):S19-S30
-
(1993)
Epilepsia
, vol.34
, Issue.SUPPL.
-
-
Berkovic, S.F.1
Cochius, J.2
Andermann, E.3
-
3
-
-
0026688649
-
Lys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)
-
Lys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992;51: 1213-1217
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1213-1217
-
-
Silvestri, G.1
Moraes, C.T.2
Shanske, S.3
-
8
-
-
0031011211
-
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator
-
Graham BH, Waymire KG, Cottrell B, et al. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat Genet 1997;16:226-234
-
(1997)
Nat Genet
, vol.16
, pp. 226-234
-
-
Graham, B.H.1
Waymire, K.G.2
Cottrell, B.3
-
9
-
-
0030273295
-
Mitochondria, free radicals, and neurodegeneration
-
Beal MF. Mitochondria, free radicals, and neurodegeneration. Curr Opin Neurobiol 1996;6:661-666
-
(1996)
Curr Opin Neurobiol
, vol.6
, pp. 661-666
-
-
Beal, M.F.1
-
11
-
-
0029816795
-
Random genetic drift in the female germ line explains the rapid segregation of mammalian mitochondrial DNA
-
Jenuth JP, Peterson AC, Fu K, et al. Random genetic drift in the female germ line explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 1996;14:146-151
-
(1996)
Nat Genet
, vol.14
, pp. 146-151
-
-
Jenuth, J.P.1
Peterson, A.C.2
Fu, K.3
-
12
-
-
0028965925
-
Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency
-
Antozzi C, Franceschetti S, Filippini G, et al. Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency. J Neurol Sci 1995;129:152-161
-
(1995)
J Neurol Sci
, vol.129
, pp. 152-161
-
-
Antozzi, C.1
Franceschetti, S.2
Filippini, G.3
-
13
-
-
0030152946
-
Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua
-
Elia M, Musumeci SA, Ferri R. Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua. Brain Dev 1996;18:207-211
-
(1996)
Brain Dev
, vol.18
, pp. 207-211
-
-
Elia, M.1
Musumeci, S.A.2
Ferri, R.3
-
14
-
-
0028288558
-
A novel mitochondrial point mutation in a maternal pedigree wirh sensorineural deafness
-
Reid FM, Vernham GA, Jacobs HT. A novel mitochondrial point mutation in a maternal pedigree wirh sensorineural deafness. Hum Mutat 1994;3:243-247
-
(1994)
Hum Mutat
, vol.3
, pp. 243-247
-
-
Reid, F.M.1
Vernham, G.A.2
Jacobs, H.T.3
-
15
-
-
0027510301
-
Cerebral blood flow in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
-
Ooiwa Y, Uematsu Y, Terada T, et al. Cerebral blood flow in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Stroke 1993;24:304-309
-
(1993)
Stroke
, vol.24
, pp. 304-309
-
-
Ooiwa, Y.1
Uematsu, Y.2
Terada, T.3
-
17
-
-
0031049518
-
A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues
-
Degoul F, François D, Diry M, et al. A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues. J Inherit Metab Dis 1997;20:49-53
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 49-53
-
-
Degoul, F.1
François, D.2
Diry, M.3
-
18
-
-
0028229152
-
Mitochondrial DNA diseases: Histological and cellular studies
-
Shoubridge EA. Mitochondrial DNA diseases: histological and cellular studies. J Bioenerg Biomembr 1994;26:301-310
-
(1994)
J Bioenerg Biomembr
, vol.26
, pp. 301-310
-
-
Shoubridge, E.A.1
-
19
-
-
0026457825
-
Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy
-
Yoneda M, Chomyn A, Martinuzzi A, et al. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc Natl Acad Sci USA 1992;89:11164-11168
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 11164-11168
-
-
Yoneda, M.1
Chomyn, A.2
Martinuzzi, A.3
-
20
-
-
0031020420
-
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle
-
Weber K, Wilson JN, Taylor L, et al. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am J Hum Genet 1997;60:373-380
-
(1997)
Am J Hum Genet
, vol.60
, pp. 373-380
-
-
Weber, K.1
Wilson, J.N.2
Taylor, L.3
-
21
-
-
0030883079
-
Pre-implantation diagnosis: Current status and new developments
-
Lissens W, Sermon K. pre-implantation diagnosis: current status and new developments. Hum Reprod 1997;12:1756-1761
-
(1997)
Hum Reprod
, vol.12
, pp. 1756-1761
-
-
Lissens, W.1
Sermon, K.2
|