-
1
-
-
0027311153
-
No evidence for altered muscle mitochondrial function in Parkinson's disease
-
Anderson J.J., Bravi D., Ferrari R., Davis T.L., Baronti F., Chase T.N., Dagani F. No evidence for altered muscle mitochondrial function in Parkinson's disease. J. Neurol. Neurosurg. Psychiatry. 56:1993;477-480.
-
(1993)
J. Neurol. Neurosurg. Psychiatry
, vol.56
, pp. 477-480
-
-
Anderson, J.J.1
Bravi, D.2
Ferrari, R.3
Davis, T.L.4
Baronti, F.5
Chase, T.N.6
Dagani, F.7
-
2
-
-
0029003333
-
Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems
-
Attardi G., Yoneda M., Chomyn A. Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems. Biochim. Biophys. Acta. 1271:1995;241-248.
-
(1995)
Biochim. Biophys. Acta
, vol.1271
, pp. 241-248
-
-
Attardi, G.1
Yoneda, M.2
Chomyn, A.3
-
3
-
-
0027401575
-
Respiratory chain enzyme activities in lymphocytes from untreated patients with Parkinson disease
-
Barroso N., Campos Y., Huertas R., Esteban J., Molina J.A., Alonso A., Gutierrez-Rivas E., Arenas J. Respiratory chain enzyme activities in lymphocytes from untreated patients with Parkinson disease. Clin. Chem. 39:1993;667-669.
-
(1993)
Clin. Chem.
, vol.39
, pp. 667-669
-
-
Barroso, N.1
Campos, Y.2
Huertas, R.3
Esteban, J.4
Molina, J.A.5
Alonso, A.6
Gutierrez-Rivas, E.7
Arenas, J.8
-
4
-
-
0027204154
-
Age-dependent striatal excitotoxic lesions produced by the endogenous mitochondrial inhibitor malonate
-
Beal M.F., Brouillet E., Jenkins B., Henshaw R., Rosen B., Hyman B.T. Age-dependent striatal excitotoxic lesions produced by the endogenous mitochondrial inhibitor malonate. J. Neurochem. 61:1993;1147-1150.
-
(1993)
J. Neurochem.
, vol.61
, pp. 1147-1150
-
-
Beal, M.F.1
Brouillet, E.2
Jenkins, B.3
Henshaw, R.4
Rosen, B.5
Hyman, B.T.6
-
5
-
-
0027750939
-
Electron transfer complexes I and IV of platelets are abnormal in Parkinson's disease but normal in Parkinson-plus syndromes
-
Benecke R., Strumper P., Weiss H. Electron transfer complexes I and IV of platelets are abnormal in Parkinson's disease but normal in Parkinson-plus syndromes. Brain. 116:1993;1451-1463.
-
(1993)
Brain
, vol.116
, pp. 1451-1463
-
-
Benecke, R.1
Strumper, P.2
Weiss, H.3
-
6
-
-
0030070924
-
Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: Shift towards mutant genotype and role of mtDNA copy number
-
Bentlage H.A.C.M., Attardi G. Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number. Hum. Mol. Genet. 5:1996;197-205.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 197-205
-
-
Bentlage, H.A.C.M.1
Attardi, G.2
-
7
-
-
0017338735
-
Lumping or splitting? 'Ophthalmoplegia-plus' or Kearns-Sayre syndrome?
-
Berenberg R.A., Pellock J.M., DiMauro S., Schotland D.L., Bonilla E., Eastwood A., Hays A., Vicale C.T., Behrens M., Chutorian A., Rowland L.P. Lumping or splitting? 'Ophthalmoplegia-plus' or Kearns-Sayre syndrome? Ann. Neurol. 1:1977;37-54.
-
(1977)
Ann. Neurol.
, vol.1
, pp. 37-54
-
-
Berenberg, R.A.1
Pellock, J.M.2
DiMauro, S.3
Schotland, D.L.4
Bonilla, E.5
Eastwood, A.6
Hays, A.7
Vicale, C.T.8
Behrens, M.9
Chutorian, A.10
Rowland, L.P.11
-
8
-
-
0029102268
-
Leber's hereditary optic neuropathy: Implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation
-
Black G.C., Craig I.W., Oostra R.J., Norby S., Rosenberg T., Morten K., Laborde A., Poulton J. Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation. Eye. 9:1995;513-516.
-
(1995)
Eye
, vol.9
, pp. 513-516
-
-
Black, G.C.1
Craig, I.W.2
Oostra, R.J.3
Norby, S.4
Rosenberg, T.5
Morten, K.6
Laborde, A.7
Poulton, J.8
-
9
-
-
0029912105
-
Leber's hereditary optic neuropathy: Heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation
-
Black G.C., Morten K., Laborde A., Poulton J. Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. Br. J. Ophthalmol. 80:1996;915-917.
-
(1996)
Br. J. Ophthalmol.
, vol.80
, pp. 915-917
-
-
Black, G.C.1
Morten, K.2
Laborde, A.3
Poulton, J.4
-
10
-
-
0027215961
-
A mitochondrial DNA deletion in normally aging and in Alzheimer brain tissue
-
Blanchard B.J., Park T., Fripp W.J., Lerman L.S., Ingram V.M. A mitochondrial DNA deletion in normally aging and in Alzheimer brain tissue. Neuroreport. 4:1993;799-802.
-
(1993)
Neuroreport
, vol.4
, pp. 799-802
-
-
Blanchard, B.J.1
Park, T.2
Fripp, W.J.3
Lerman, L.S.4
Ingram, V.M.5
-
11
-
-
0028837939
-
A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion
-
Blok R.B., Thorburn D.R., Thompson G.N., Dahl H.H. A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion. Hum. Genet. 95:1995;75-81.
-
(1995)
Hum. Genet.
, vol.95
, pp. 75-81
-
-
Blok, R.B.1
Thorburn, D.R.2
Thompson, G.N.3
Dahl, H.H.4
-
12
-
-
0027448161
-
Age-dependent vulnerability of the striatum to the mitochondrial toxin 3-nitropropionic acid
-
Brouillet E., Jenkins B.G., Hyman B.T., Ferrante R.J., Kowall N.W., Srivastava R., Roy D.S., Rosen B.R., Beal M.F. Age-dependent vulnerability of the striatum to the mitochondrial toxin 3-nitropropionic acid. J. Neurochem. 60:1993;356-359.
-
(1993)
J. Neurochem.
, vol.60
, pp. 356-359
-
-
Brouillet, E.1
Jenkins, B.G.2
Hyman, B.T.3
Ferrante, R.J.4
Kowall, N.W.5
Srivastava, R.6
Roy, D.S.7
Rosen, B.R.8
Beal, M.F.9
-
13
-
-
0029118136
-
Chronic mitochondrial energy impairment produces selective striatal degeneration and abnormal choreiform movements in primates
-
Brouillet E., Hantraye P., Ferrante R.J., Dolan R., Leroy-Willig A., Kowall N.W., Beal M.F. Chronic mitochondrial energy impairment produces selective striatal degeneration and abnormal choreiform movements in primates. Proc. Natl. Acad. Sci. USA. 92:1995;7105-7109.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 7105-7109
-
-
Brouillet, E.1
Hantraye, P.2
Ferrante, R.J.3
Dolan, R.4
Leroy-Willig, A.5
Kowall, N.W.6
Beal, M.F.7
-
14
-
-
0028788493
-
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNAs indicates multiple independent occurrences of the common mutations
-
Brown M.D., Torroni A., Reckord C.L., Wallace D.C. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNAs indicates multiple independent occurrences of the common mutations. Hum. Mutat. 6:1995;311-325.
-
(1995)
Hum. Mutat.
, vol.6
, pp. 311-325
-
-
Brown, M.D.1
Torroni, A.2
Reckord, C.L.3
Wallace, D.C.4
-
15
-
-
0030066069
-
Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients
-
Brown M.D., Shoffner J.M., Kim Y.L., Jun A.S., Graham B.H., Cabell M.F., Gurley D.S., Wallace D.C. Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients. Am. J. Med. Genet. 61:1996;283-289.
-
(1996)
Am. J. Med. Genet.
, vol.61
, pp. 283-289
-
-
Brown, M.D.1
Shoffner, J.M.2
Kim, Y.L.3
Jun, A.S.4
Graham, B.H.5
Cabell, M.F.6
Gurley, D.S.7
Wallace, D.C.8
-
16
-
-
0031034482
-
Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11 778 or 14 484 mutations on an mtDNA lineage
-
Brown M.D., Sun F., Wallace D.C. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11 778 or 14 484 mutations on an mtDNA lineage. Am. J. Hum. Genet. 60:1997;381-387.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 381-387
-
-
Brown, M.D.1
Sun, F.2
Wallace, D.C.3
-
17
-
-
0030031395
-
Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA
-
Campos Y., Martin M.A., Lorenzo G., Aparicio M., Cabello A., Arenas J. Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA. Muscle Nerve. 19:1996;187-190.
-
(1996)
Muscle Nerve
, vol.19
, pp. 187-190
-
-
Campos, Y.1
Martin, M.A.2
Lorenzo, G.3
Aparicio, M.4
Cabello, A.5
Arenas, J.6
-
18
-
-
0029981001
-
Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy
-
Chalmers R.M., Davis M.B., Sweeney M.G., Wood N.W., Harding A.E. Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy. Am. J. Hum. Genet. 59:1996;103-108.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 103-108
-
-
Chalmers, R.M.1
Davis, M.B.2
Sweeney, M.G.3
Wood, N.W.4
Harding, A.E.5
-
19
-
-
0029969778
-
A case-control study of Leber's hereditary optic neuropathy
-
Chalmers R.M., Harding A.E. A case-control study of Leber's hereditary optic neuropathy. Brain. 119:1996;1481-1486.
-
(1996)
Brain
, vol.119
, pp. 1481-1486
-
-
Chalmers, R.M.1
Harding, A.E.2
-
20
-
-
0029665976
-
Sporadic Leber hereditary optic neuropathy in Australia and New Zealand
-
Chan C., Mackey D.A., Byrne E. Sporadic Leber hereditary optic neuropathy in Australia and New Zealand. Aust. NZ J. Ophthalmol. 24:1996;7-14.
-
(1996)
Aust. NZ J. Ophthalmol.
, vol.24
, pp. 7-14
-
-
Chan, C.1
Mackey, D.A.2
Byrne, E.3
-
21
-
-
0028199881
-
Impairment in mitochondrial cytochrome oxidase gene expression in Alzheimer disease
-
Chandrasekaran K., Giordano T., Brady D.R., Stoll J., Martin L.J., Rapoport S.I. Impairment in mitochondrial cytochrome oxidase gene expression in Alzheimer disease. Mol. Brain Res. 24:1994;336-340.
-
(1994)
Mol. Brain Res.
, vol.24
, pp. 336-340
-
-
Chandrasekaran, K.1
Giordano, T.2
Brady, D.R.3
Stoll, J.4
Martin, L.J.5
Rapoport, S.I.6
-
22
-
-
0030296713
-
Evidence for physiological down-regulation of brain oxidative phosphorylation in Alzheimer's disease
-
Chandrasekaran K., Hatanpaa K., Brady D.R., Rapoport S.I. Evidence for physiological down-regulation of brain oxidative phosphorylation in Alzheimer's disease. Exp. Neurol. 142:1996;80-88.
-
(1996)
Exp. Neurol.
, vol.142
, pp. 80-88
-
-
Chandrasekaran, K.1
Hatanpaa, K.2
Brady, D.R.3
Rapoport, S.I.4
-
23
-
-
0027213773
-
Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes
-
Chang T.S., Johns D.R., Walker D., de la Cruz Z., Maumence I.H., Green W.R. Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes. Arch. Ophthalmol. 111:1993;1254-1262.
-
(1993)
Arch. Ophthalmol.
, vol.111
, pp. 1254-1262
-
-
Chang, T.S.1
Johns, D.R.2
Walker, D.3
De La Cruz, Z.4
Maumence, I.H.5
Green, W.R.6
-
24
-
-
0027158123
-
Overlapping syndrome of MERRF and MELAS: Molecular and neuroradiological studies
-
Chen R.S., Huang C.C., Lee C.C., Wai Y.Y., Hsi M.S., Pang C.Y., Wei Y.H. Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies. Acta Neurol. Scand. 87:1993;494-498.
-
(1993)
Acta Neurol. Scand.
, vol.87
, pp. 494-498
-
-
Chen, R.S.1
Huang, C.C.2
Lee, C.C.3
Wai, Y.Y.4
Hsi, M.S.5
Pang, C.Y.6
Wei, Y.H.7
-
25
-
-
0029001517
-
Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients
-
Chen X., Bonilla E., Sciacco M., Schon E.A. Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients. Biochim. Biophys. Acta. 1271:1995;229-233.
-
(1995)
Biochim. Biophys. Acta
, vol.1271
, pp. 229-233
-
-
Chen, X.1
Bonilla, E.2
Sciacco, M.3
Schon, E.A.4
-
26
-
-
0029059278
-
Rearranged mitochondrial genomes are present in human oocytes
-
Chen X., Prosser R., Simonetti S., Sadlock J., Jagiello G., Schon E.A. Rearranged mitochondrial genomes are present in human oocytes. Am. J. Hum. Genet. 57:1995;239-247.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 239-247
-
-
Chen, X.1
Prosser, R.2
Simonetti, S.3
Sadlock, J.4
Jagiello, G.5
Schon, E.A.6
-
27
-
-
0027933135
-
Marked changes in mitochondrial DNA deletion levels in Alzheimer brains
-
Corral-Debrinski M., Horton T., Lott M.T., Shoffner J.M., McKee A.C., Beal M.F., Graham B.H., Wallace D.C. Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics. 23:1994;471-476.
-
(1994)
Genomics
, vol.23
, pp. 471-476
-
-
Corral-Debrinski, M.1
Horton, T.2
Lott, M.T.3
Shoffner, J.M.4
McKee, A.C.5
Beal, M.F.6
Graham, B.H.7
Wallace, D.C.8
-
28
-
-
0029029471
-
Modelling the effects of age-related mtDNA mutation accumulation; Complex I deficiency, superoxide and cell death
-
Cortopassi G., Wang E. Modelling the effects of age-related mtDNA mutation accumulation; complex I deficiency, superoxide and cell death. Biochim. Biophys. Acta. 1271:1995;171-176.
-
(1995)
Biochim. Biophys. Acta
, vol.1271
, pp. 171-176
-
-
Cortopassi, G.1
Wang, E.2
-
29
-
-
0027216950
-
Mitochondrial encephalomyopathy: Variable clinical expression within a single kindred
-
Crimmins D., Morris J.G., Walker G.L., Sue C.M., Byrne E., Stevens S., Jean-Francis B., Yiannikas C., Pamphlett R. Mitochondrial encephalomyopathy: variable clinical expression within a single kindred. J. Neurol. Neurosurg. Psychiatry. 56:1993;900-905.
-
(1993)
J. Neurol. Neurosurg. Psychiatry
, vol.56
, pp. 900-905
-
-
Crimmins, D.1
Morris, J.G.2
Walker, G.L.3
Sue, C.M.4
Byrne, E.5
Stevens, S.6
Jean-Francis, B.7
Yiannikas, C.8
Pamphlett, R.9
-
30
-
-
12644257598
-
Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease
-
Davis R.E., Miller S., Herrnstadt C., Ghosh S.S., Fahy E., Shinobu L.A., Galasko D., Thal L.J., Beal M.F., Howell N., Parker W.D. Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease. Proc. Natl. Acad. Sci. USA. 94:1997;4526-4531.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 4526-4531
-
-
Davis, R.E.1
Miller, S.2
Herrnstadt, C.3
Ghosh, S.S.4
Fahy, E.5
Shinobu, L.A.6
Galasko, D.7
Thal, L.J.8
Beal, M.F.9
Howell, N.10
Parker, W.D.11
-
31
-
-
0028272494
-
Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation
-
de Vries D., de Wijs I., Ruitenbeek W., Begeer J., Smit P., Bentlage H., van Oost B. Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. J. Neurol. Sci. 124:1994;77-82.
-
(1994)
J. Neurol. Sci.
, vol.124
, pp. 77-82
-
-
De Vries, D.1
De Wijs, I.2
Ruitenbeek, W.3
Begeer, J.4
Smit, P.5
Bentlage, H.6
Van Oost, B.7
-
32
-
-
0029967483
-
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
-
de Vries D.D., Went L.N., Bruyn G.W., Scholte H.R., Hofstra R.M., Bolhuis P.A., van Oost B.A. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am. J. Hum. Genet. 58:1996;703-711.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 703-711
-
-
De Vries, D.D.1
Went, L.N.2
Bruyn, G.W.3
Scholte, H.R.4
Hofstra, R.M.5
Bolhuis, P.A.6
Van Oost, B.A.7
-
33
-
-
0028348552
-
Myo-leukoencephalopathy in twins: Study of 3243-myopathy, myoleukoencephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation
-
Degoul F., Diry M., Pou-Serradell A., Lloreta J., Marsac C. Myo-leukoencephalopathy in twins: study of 3243-myopathy, myoleukoencephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation. Ann. Neurol. 35:1994;365-370.
-
(1994)
Ann. Neurol.
, vol.35
, pp. 365-370
-
-
Degoul, F.1
Diry, M.2
Pou-Serradell, A.3
Lloreta, J.4
Marsac, C.5
-
34
-
-
0027431450
-
Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients
-
DiDonato S., Zeviani M., Giovannini P., Savarese N., Rimoldi M., Mariotti C., Girotti F., Caraceni T. Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients. Neurology. 43:1993;2262-2268.
-
(1993)
Neurology
, vol.43
, pp. 2262-2268
-
-
DiDonato, S.1
Zeviani, M.2
Giovannini, P.3
Savarese, N.4
Rimoldi, M.5
Mariotti, C.6
Girotti, F.7
Caraceni, T.8
-
35
-
-
0030001780
-
Oxidative stress and antioxidant therapy in Parkinson's disease
-
Ebadi M., Srinivasan S.K., Baxi M.D. Oxidative stress and antioxidant therapy in Parkinson's disease. Progr. Neurobiol. 48:1996;1-19.
-
(1996)
Progr. Neurobiol.
, vol.48
, pp. 1-19
-
-
Ebadi, M.1
Srinivasan, S.K.2
Baxi, M.D.3
-
36
-
-
0030016323
-
Increased risk of dementia in mothers of Alzheimer's disease cases: Evidence for maternal inheritance
-
Edland S.D., Silverman J.M., Peskind E.R., Tsuang D., Wijsman E., Morris J.C. Increased risk of dementia in mothers of Alzheimer's disease cases: evidence for maternal inheritance. Neurology. 47:1996;254-256.
-
(1996)
Neurology
, vol.47
, pp. 254-256
-
-
Edland, S.D.1
Silverman, J.M.2
Peskind, E.R.3
Tsuang, D.4
Wijsman, E.5
Morris, J.C.6
-
37
-
-
0030590067
-
The apolipoprotein E epsilon 4 allele in Parkinson's disease with Alzheimer lesions
-
Egensperger R., Bancher C., Kösel S., Jellinger K., Mehraein P., Graeber M.B. The apolipoprotein E epsilon 4 allele in Parkinson's disease with Alzheimer lesions. Biochem. Biophys. Res. Commun. 224:1996;484-486.
-
(1996)
Biochem. Biophys. Res. Commun.
, vol.224
, pp. 484-486
-
-
Egensperger, R.1
Bancher, C.2
Kösel, S.3
Jellinger, K.4
Mehraein, P.5
Graeber, M.B.6
-
38
-
-
0030811838
-
Association of the mitochondrial tRNA A4336G mutation with Alzheimer's and Parkinson's diseases
-
Egensperger R., Kösel S., Schnopp N.M., Mehraein P., Graeber M.B. Association of the mitochondrial tRNA A4336G mutation with Alzheimer's and Parkinson's diseases. Neuropathol. Appl. Neurobiol. 23:1997;315-321.
-
(1997)
Neuropathol. Appl. Neurobiol.
, vol.23
, pp. 315-321
-
-
Egensperger, R.1
Kösel, S.2
Schnopp, N.M.3
Mehraein, P.4
Graeber, M.B.5
-
39
-
-
0026410698
-
A specific point mutation in the mitochondrial genome of caucasians with MELAS
-
Enter C., Muller-Hocker J., Zierz S., Kurlemann G., Pongratz D., Forster C., Obermaier-Kusser B., Gerbitz K.D. A specific point mutation in the mitochondrial genome of caucasians with MELAS. Hum. Genet. 88:1991;233-236.
-
(1991)
Hum. Genet.
, vol.88
, pp. 233-236
-
-
Enter, C.1
Muller-Hocker, J.2
Zierz, S.3
Kurlemann, G.4
Pongratz, D.5
Forster, C.6
Obermaier-Kusser, B.7
Gerbitz, K.D.8
-
40
-
-
0030015798
-
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome
-
Fabrizi G.M., Cardaioli E., Grieco G.S., Cavallaro T., Malandrini A., Manneschi L., Dotti M.T., Federico A., Guazzi G. The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. J. Neurol. Neurosurg. Psychiatry. 61:1996;47-51.
-
(1996)
J. Neurol. Neurosurg. Psychiatry
, vol.61
, pp. 47-51
-
-
Fabrizi, G.M.1
Cardaioli, E.2
Grieco, G.S.3
Cavallaro, T.4
Malandrini, A.5
Manneschi, L.6
Dotti, M.T.7
Federico, A.8
Guazzi, G.9
-
41
-
-
0029026672
-
The 3243 MELAS mutation in a pedigree with MERRF
-
Folgero T., Torbergsen T., Oian P. The 3243 MELAS mutation in a pedigree with MERRF. Eur. Neurol. 35:1995;168-171.
-
(1995)
Eur. Neurol.
, vol.35
, pp. 168-171
-
-
Folgero, T.1
Torbergsen, T.2
Oian, P.3
-
42
-
-
0027974169
-
Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'
-
Fryer A., Appleton R., Sweeney M.G., Rosenbloom L., Harding A.E. Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'. Arch. Dis. Child. 71:1994;419-422.
-
(1994)
Arch. Dis. Child.
, vol.71
, pp. 419-422
-
-
Fryer, A.1
Appleton, R.2
Sweeney, M.G.3
Rosenbloom, L.4
Harding, A.E.5
-
43
-
-
0029939002
-
Gene expression of ND4, a subunit of complex I of oxidative phosphorylation in mitochondria, is decreased in temporal cortex of brains of Alzheimer's disease patients
-
Fukuyama R., Hatanpaa K., Rapoport S.I., Chandrasekaran K. Gene expression of ND4, a subunit of complex I of oxidative phosphorylation in mitochondria, is decreased in temporal cortex of brains of Alzheimer's disease patients. Brain Res. 713:1996;290-293.
-
(1996)
Brain Res.
, vol.713
, pp. 290-293
-
-
Fukuyama, R.1
Hatanpaa, K.2
Rapoport, S.I.3
Chandrasekaran, K.4
-
44
-
-
0030567762
-
Altered oxidation and signal transduction systems in fibroblasts from Alzheimer patients
-
Gibson G., Martins R., Blass J., Gandy S. Altered oxidation and signal transduction systems in fibroblasts from Alzheimer patients. Life Sci. 59:1996;477-489.
-
(1996)
Life Sci.
, vol.59
, pp. 477-489
-
-
Gibson, G.1
Martins, R.2
Blass, J.3
Gandy, S.4
-
45
-
-
0026004614
-
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
-
Goto Y., Nonaka I., Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim. Biophys. Acta. 1097:1991;238-240.
-
(1991)
Biochim. Biophys. Acta
, vol.1097
, pp. 238-240
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
46
-
-
0027935355
-
A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
-
Goto Y., Tsugane K., Tanabe Y., Nonaka I., Horai S. A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem. Biophys. Res. Commun. 202:1994;1624-1630.
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.202
, pp. 1624-1630
-
-
Goto, Y.1
Tsugane, K.2
Tanabe, Y.3
Nonaka, I.4
Horai, S.5
-
47
-
-
0029875381
-
Mitochondrial defect in Huntington's disease caudate nucleus
-
Gu M., Gash M.T., Mann V.M., Javoy-Agid F., Cooper J.M., Schapira A.H. Mitochondrial defect in Huntington's disease caudate nucleus. Ann. Neurol. 39:1996;385-389.
-
(1996)
Ann. Neurol.
, vol.39
, pp. 385-389
-
-
Gu, M.1
Gash, M.T.2
Mann, V.M.3
Javoy-Agid, F.4
Cooper, J.M.5
Schapira, A.H.6
-
48
-
-
0029050583
-
Low platelet mitochondrial complex I and complex II/III activity in early untreated Parkinson's disease
-
Haas R.H., Nasirian F., Nakano K., Ward D., Pay M., Hill R., Shults C.W. Low platelet mitochondrial complex I and complex II/III activity in early untreated Parkinson's disease. Ann. Neurol. 37:1995;714-722.
-
(1995)
Ann. Neurol.
, vol.37
, pp. 714-722
-
-
Haas, R.H.1
Nasirian, F.2
Nakano, K.3
Ward, D.4
Pay, M.5
Hill, R.6
Shults, C.W.7
-
49
-
-
0029077496
-
The mitochondrial DNA transfer RNALeu(UUR) A→G(3243) mutation. A clinical and genetic study
-
Hammans S.R., Sweeney M.G., Hanna M.G., Brockington M., Morgan-Hughes J.A., Harding A.E. The mitochondrial DNA transfer RNALeu(UUR) A→G(3243) mutation. A clinical and genetic study. Brain. 118:1995;721-734.
-
(1995)
Brain
, vol.118
, pp. 721-734
-
-
Hammans, S.R.1
Sweeney, M.G.2
Hanna, M.G.3
Brockington, M.4
Morgan-Hughes, J.A.5
Harding, A.E.6
-
50
-
-
0002560834
-
Mitochondrial myopathies: Clinical features, investigation, treatment and genetic counselling
-
Schapira, A.H.V., DiMauro, S. (Eds.) Butterworth-Heinemann, Oxford
-
Hammans, S.R., Morgan-Hughes, J.A., 1994. Mitochondrial myopathies: clinical features, investigation, treatment and genetic counselling. In: Schapira, A.H.V., DiMauro, S. (Eds.), Mitochondrial Disorders in Neurology. Butterworth-Heinemann, Oxford, pp. 49-74.
-
(1994)
Mitochondrial Disorders in Neurology.
, pp. 49-74
-
-
Hammans, S.R.1
Morgan-Hughes, J.A.2
-
51
-
-
0029009729
-
Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A→G (MERRF) mutation: Relationship to proportion of mutant mitochondrial DNA
-
Hanna M.G., Nelson I.P., Morgan-Hughes J.A., Harding A.E. Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A→G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA. J. Neurol. Sci. 130:1995;154-160.
-
(1995)
J. Neurol. Sci.
, vol.130
, pp. 154-160
-
-
Hanna, M.G.1
Nelson, I.P.2
Morgan-Hughes, J.A.3
Harding, A.E.4
-
52
-
-
0027767774
-
Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function
-
Hayashi J., Ohta S., Takai D., Miyabayashi S., Sakuta R., Goto Y., Nonaka I. Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function. Biochem. Biophys. Res. Commun. 197:1993;1049-1055.
-
(1993)
Biochem. Biophys. Res. Commun.
, vol.197
, pp. 1049-1055
-
-
Hayashi, J.1
Ohta, S.2
Takai, D.3
Miyabayashi, S.4
Sakuta, R.5
Goto, Y.6
Nonaka, I.7
-
53
-
-
0031024138
-
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes
-
Hofmann S., Bezold R., Jaksch M., Obermaier-Kusser B., Mertens S., Kaufhold P., Rabl W., Hecker W., Gerbitz K.D. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics. 39:1997;8-18.
-
(1997)
Genomics
, vol.39
, pp. 8-18
-
-
Hofmann, S.1
Bezold, R.2
Jaksch, M.3
Obermaier-Kusser, B.4
Mertens, S.5
Kaufhold, P.6
Rabl, W.7
Hecker, W.8
Gerbitz, K.D.9
-
54
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt I.J., Harding A.E., Morgan-Hughes J.A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 331:1988;717-719.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
55
-
-
0029431871
-
Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients
-
Horton T.M., Graham B.H., Corral-Debrinski M., Shoffner J.M., Kaufman A.E., Beal M.F., Wallace D.C. Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients. Neurology. 45:1995;1879-1883.
-
(1995)
Neurology
, vol.45
, pp. 1879-1883
-
-
Horton, T.M.1
Graham, B.H.2
Corral-Debrinski, M.3
Shoffner, J.M.4
Kaufman, A.E.5
Beal, M.F.6
Wallace, D.C.7
-
56
-
-
0028928397
-
Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees
-
Howell N., Kubacka I., Halvorson S., Howell B., McCullough D.A., Mackey D. Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics. 140:1995;285-302.
-
(1995)
Genetics
, vol.140
, pp. 285-302
-
-
Howell, N.1
Kubacka, I.2
Halvorson, S.3
Howell, B.4
McCullough, D.A.5
Mackey, D.6
-
57
-
-
0029977170
-
Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease
-
Howell N., Kubacka I., Smith R., Frerman F., Parks J.K., Parker W.D. Jr. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. Neurology. 46:1996;219-222.
-
(1996)
Neurology
, vol.46
, pp. 219-222
-
-
Howell, N.1
Kubacka, I.2
Smith, R.3
Frerman, F.4
Parks, J.K.5
Parker W.D., Jr.6
-
58
-
-
0029283574
-
Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome
-
Huang C.C., Chu N.S., Shih K.D., Pang C.Y., Wei Y.H. Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome. J. Formosan Med. Assoc. 94:1995;159-163.
-
(1995)
J. Formosan Med. Assoc.
, vol.94
, pp. 159-163
-
-
Huang, C.C.1
Chu, N.S.2
Shih, K.D.3
Pang, C.Y.4
Wei, Y.H.5
-
59
-
-
0029091194
-
A mitochondrial DNA clone is associated with increased risk for Alzheimer disease
-
Hutchin T., Cortopassi G. A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. Proc. Natl. Acad. Sci. USA. 92:1995;6892-6895.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 6892-6895
-
-
Hutchin, T.1
Cortopassi, G.2
-
60
-
-
0028854722
-
Point mutations of mitochondrial genome in Parkinson's disease
-
Ikebe S., Tanaka M., Ozawa T. Point mutations of mitochondrial genome in Parkinson's disease. Mol. Brain Res. 28:1995;281-295.
-
(1995)
Mol. Brain Res.
, vol.28
, pp. 281-295
-
-
Ikebe, S.1
Tanaka, M.2
Ozawa, T.3
-
61
-
-
0028316759
-
Unaltered aconitase activity, but decreased complex I activity in Substantia nigra pars compacta of patients with Parkinson's disease
-
Janetzky B., Hauck S., Youdim M.B.H., Riederer P., Jellinger K., Pantucek F., Zochling R., Boissl K.W., Reichmann H. Unaltered aconitase activity, but decreased complex I activity in Substantia nigra pars compacta of patients with Parkinson's disease. Neurosci. Lett. 169:1994;126-128.
-
(1994)
Neurosci. Lett.
, vol.169
, pp. 126-128
-
-
Janetzky, B.1
Hauck, S.2
Youdim, M.B.H.3
Riederer, P.4
Jellinger, K.5
Pantucek, F.6
Zochling, R.7
Boissl, K.W.8
Reichmann, H.9
-
62
-
-
0029965659
-
Investigations on the point mutations at nt 5460 of the mtDNA in different neurodegenerative and neuromuscular diseases
-
Janetzky B., Schmid C., Bischof F., Frolich L., Gsell W., Kalaria R.N., Riederer P., Reichmann H. Investigations on the point mutations at nt 5460 of the mtDNA in different neurodegenerative and neuromuscular diseases. Eur. Neurol. 36:1996;149-153.
-
(1996)
Eur. Neurol.
, vol.36
, pp. 149-153
-
-
Janetzky, B.1
Schmid, C.2
Bischof, F.3
Frolich, L.4
Gsell, W.5
Kalaria, R.N.6
Riederer, P.7
Reichmann, H.8
-
63
-
-
0027185713
-
Altered mitochondrial function, iron metabolism and glutathione levels in Parkinson's disease
-
Jenner P. Altered mitochondrial function, iron metabolism and glutathione levels in Parkinson's disease. Acta Neurol. Scand. Suppl. 146:1993;6-13.
-
(1993)
Acta Neurol. Scand. Suppl.
, vol.146
, pp. 6-13
-
-
Jenner, P.1
-
64
-
-
0030060823
-
Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia
-
Jun A.S., Trounce I.A., Brown M.D., Shoffner J.M., Wallace D.C. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol. Cell. Biol. 16:1996;771-777.
-
(1996)
Mol. Cell. Biol.
, vol.16
, pp. 771-777
-
-
Jun, A.S.1
Trounce, I.A.2
Brown, M.D.3
Shoffner, J.M.4
Wallace, D.C.5
-
65
-
-
0030449566
-
Mitochondrial DNA polymorphism in substantia nigra
-
Kapsa R.M.I., Jean-Francois M.J.B., Lertrit P., Weng S., Siregar N., Ojaimi J., Donnan G., Masters C., Byrne E. Mitochondrial DNA polymorphism in substantia nigra. J. Neurol. Sci. 144:1996;204-211.
-
(1996)
J. Neurol. Sci.
, vol.144
, pp. 204-211
-
-
Kapsa, R.M.I.1
Jean-Francois, M.J.B.2
Lertrit, P.3
Weng, S.4
Siregar, N.5
Ojaimi, J.6
Donnan, G.7
Masters, C.8
Byrne, E.9
-
66
-
-
0029812866
-
Mitochondrial DNA and RNA processing in MELAS
-
Kaufmann P., Koga Y., Shanske S., Hirano M., DiMauro S., King M.P., Schon E.A. Mitochondrial DNA and RNA processing in MELAS. Ann. Neurol. 40:1996;172-180.
-
(1996)
Ann. Neurol.
, vol.40
, pp. 172-180
-
-
Kaufmann, P.1
Koga, Y.2
Shanske, S.3
Hirano, M.4
DiMauro, S.5
King, M.P.6
Schon, E.A.7
-
67
-
-
0029010022
-
Mitochondrial encephalomyopathy with autosomal dominant inheritance: A clinical and genetic entity of mitochondrial diseases
-
Kawai H., Akaike M., Yokoi K., Nishida Y., Kunishige M., Mine H., Saito S. Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. Muscle Nerve. 18:1995;753-760.
-
(1995)
Muscle Nerve
, vol.18
, pp. 753-760
-
-
Kawai, H.1
Akaike, M.2
Yokoi, K.3
Nishida, Y.4
Kunishige, M.5
Mine, H.6
Saito, S.7
-
68
-
-
0026573082
-
Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
-
King M.P., Koga Y., Davidson M., Schon E.A. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol. Cell. Biol. 12:1992;480-490.
-
(1992)
Mol. Cell. Biol.
, vol.12
, pp. 480-490
-
-
King, M.P.1
Koga, Y.2
Davidson, M.3
Schon, E.A.4
-
69
-
-
0029013729
-
Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA(Leu(UUR)) gene
-
Koga Y., Davidson M., Schon E.A., King M.P. Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA(Leu(UUR)) gene. Muscle Nerve. 3:1995;S119-S123.
-
(1995)
Muscle Nerve
, vol.3
-
-
Koga, Y.1
Davidson, M.2
Schon, E.A.3
King, M.P.4
-
70
-
-
0030585323
-
Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy
-
Kovalenko S.A., Tanaka M., Yoneda M., Iakovlev A.F., Ozawa T. Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy. Biochem. Biophys. Res. Commun. 222:1996;201-207.
-
(1996)
Biochem. Biophys. Res. Commun.
, vol.222
, pp. 201-207
-
-
Kovalenko, S.A.1
Tanaka, M.2
Yoneda, M.3
Iakovlev, A.F.4
Ozawa, T.5
-
71
-
-
0027935035
-
No association of mutations at nucleotide 5460 of mitochondrial NADH dehydrogenase with Alzheimer's disease
-
Kösel S., Egensperger R., Mehraein P., Graeber M.B. No association of mutations at nucleotide 5460 of mitochondrial NADH dehydrogenase with Alzheimer's disease. Biochem. Biophys. Res. Commun. 203:1994;745-749.
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.203
, pp. 745-749
-
-
Kösel, S.1
Egensperger, R.2
Mehraein, P.3
Graeber, M.B.4
-
72
-
-
0029880474
-
Mitochondrial NADH dehydrogenase and CYP2D6 genotypes in Lewy-body Parkinsonism
-
Kösel S., Lücking C.B., Egensperger R., Mehraein P., Graeber M.B. Mitochondrial NADH dehydrogenase and CYP2D6 genotypes in Lewy-body Parkinsonism. J. Neurosci. Res. 44:1996;174-183.
-
(1996)
J. Neurosci. Res.
, vol.44
, pp. 174-183
-
-
Kösel, S.1
Lücking, C.B.2
Egensperger, R.3
Mehraein, P.4
Graeber, M.B.5
-
73
-
-
0030931581
-
The 'common deletion' is not increased in Parkinsonian substantia nigra as shown by competitive PCR
-
Kösel S., Egensperger R., Schnopp N.M., Graeber M.B. The 'common deletion' is not increased in Parkinsonian substantia nigra as shown by competitive PCR. Move. Disord. 12:1997;639-645.
-
(1997)
Move. Disord.
, vol.12
, pp. 639-645
-
-
Kösel, S.1
Egensperger, R.2
Schnopp, N.M.3
Graeber, M.B.4
-
74
-
-
0020680904
-
Chronic parkinsonism in humans due to a product of meperidine-analog synthesis
-
Langston J.W., Ballard P., Tetrud J.W., Irwin I. Chronic parkinsonism in humans due to a product of meperidine-analog synthesis. Science. 219:1983;979-980.
-
(1983)
Science
, vol.219
, pp. 979-980
-
-
Langston, J.W.1
Ballard, P.2
Tetrud, J.W.3
Irwin, I.4
-
75
-
-
34447600937
-
Über hereditäre und congenital-angelegte Sehnervenleiden
-
Leber T. Über hereditäre und congenital-angelegte Sehnervenleiden. Arch. Ophthalmol. 17:1871;249-291.
-
(1871)
Arch. Ophthalmol.
, vol.17
, pp. 249-291
-
-
Leber, T.1
-
76
-
-
0030183793
-
Leber's hereditary optic neuropathy: Clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND6 gene
-
Leo-Kottler B., Christ-Adler M., Baumann B., Zrenner E., Wissinger B. Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND6 gene. Germ. J. Ophthalmol. 5:1996;233-240.
-
(1996)
Germ. J. Ophthalmol.
, vol.5
, pp. 233-240
-
-
Leo-Kottler, B.1
Christ-Adler, M.2
Baumann, B.3
Zrenner, E.4
Wissinger, B.5
-
77
-
-
0026584717
-
Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains
-
Lin F.H., Lin R., Wisniewski H.M., Hwang Y.W., Grundke-Iqbal I., Healy-Louie G., Iqbal K. Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains. Biochem. Biophys. Res. Commun. 182:1992;238-246.
-
(1992)
Biochem. Biophys. Res. Commun.
, vol.182
, pp. 238-246
-
-
Lin, F.H.1
Lin, R.2
Wisniewski, H.M.3
Hwang, Y.W.4
Grundke-Iqbal, I.5
Healy-Louie, G.6
Iqbal, K.7
-
79
-
-
0029693103
-
Ocular myopathy and mitochondrial DNA deletion
-
A presentation of seven identified Danish patients
-
Magalhaes, P.J., Sjo, O., Norby, S., 1996. Ocular myopathy and mitochondrial DNA deletion. A presentation of seven identified Danish patients. Acta Ophthalmol. Scand. (Suppl.) 29-32.
-
(1996)
Acta Ophthalmol. Scand.
, Issue.SUPPL.
, pp. 29-32
-
-
Magalhaes, P.J.1
Sjo, O.2
Norby, S.3
-
80
-
-
0028936818
-
Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome
-
Makela-Bengs P., Suomalainen A., Majander A., Rapola J., Kalimo H., Nuutila A., Pihko H. Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. Pediatr. Res. 37:1995;634-639.
-
(1995)
Pediatr. Res.
, vol.37
, pp. 634-639
-
-
Makela-Bengs, P.1
Suomalainen, A.2
Majander, A.3
Rapola, J.4
Kalimo, H.5
Nuutila, A.6
Pihko, H.7
-
81
-
-
0029046428
-
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene
-
Manfredi G., Schon E.A., Moraes C.T., Bonilla E., Berry G.T., Sladky J.T., DiMauro S. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromusc. Disord. 5:1995;391-398.
-
(1995)
Neuromusc. Disord.
, vol.5
, pp. 391-398
-
-
Manfredi, G.1
Schon, E.A.2
Moraes, C.T.3
Bonilla, E.4
Berry, G.T.5
Sladky, J.T.6
DiMauro, S.7
-
82
-
-
0026548217
-
Quantitation of a mitochondrial DNA deletion in Parkinson's disease
-
Mann V.M., Cooper J.M., Schapira A.H.V. Quantitation of a mitochondrial DNA deletion in Parkinson's disease. FEBS Lett. 299:1992;218-222.
-
(1992)
FEBS Lett.
, vol.299
, pp. 218-222
-
-
Mann, V.M.1
Cooper, J.M.2
Schapira, A.H.V.3
-
83
-
-
0029881588
-
Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?
-
Marchington D.R., Poulton J., Sellar A., Holt I.J. Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease? Hum. Mol. Genet. 5:1996;473-479.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 473-479
-
-
Marchington, D.R.1
Poulton, J.2
Sellar, A.3
Holt, I.J.4
-
84
-
-
0028109362
-
A Caucasian family with the 3271 mutation in mitochondrial DNA
-
Marie, S.K., Goto, Y., Passos-Bueno, M.R., Zatz, M., Carvalho, A.A., Carvalho, M., Levy, J.A., Palou, V.B., Campiotto, S., Horai, S., et al., 1994. A Caucasian family with the 3271 mutation in mitochondrial DNA. Biochem. Med. Metab. Biol. 52, 136-139.
-
(1994)
Biochem. Med. Metab. Biol.
, vol.52
, pp. 136-139
-
-
Marie, S.K.1
Goto, Y.2
Passos-Bueno, M.R.3
Zatz, M.4
Carvalho, A.A.5
Carvalho, M.6
Levy, J.A.7
Palou, V.B.8
Campiotto, S.9
Horai, S.10
-
85
-
-
0029086201
-
Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study
-
Mariotti C., Uziel G., Carrara F., Mora M., Prelle A., Tiranti V., DiDonato S., Zeviani M. Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study. J. Neurol. 242:1995;547-556.
-
(1995)
J. Neurol.
, vol.242
, pp. 547-556
-
-
Mariotti, C.1
Uziel, G.2
Carrara, F.3
Mora, M.4
Prelle, A.5
Tiranti, V.6
DiDonato, S.7
Zeviani, M.8
-
86
-
-
0030070870
-
Effects of isoquinoline derivatives structurally related to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) on mitochondrial respiration
-
McNaught K.S., Thull U., Carrupt P.A., Altomare C., Cellamare S., Carotti A., Testa B., Jenner P., Marsden C.D. Effects of isoquinoline derivatives structurally related to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) on mitochondrial respiration. Biochem. Pharmacol. 51:1996;1503-1511.
-
(1996)
Biochem. Pharmacol.
, vol.51
, pp. 1503-1511
-
-
McNaught, K.S.1
Thull, U.2
Carrupt, P.A.3
Altomare, C.4
Cellamare, S.5
Carotti, A.6
Testa, B.7
Jenner, P.8
Marsden, C.D.9
-
87
-
-
0029980389
-
Altered mitochondrial membrane fluidity in AD brain
-
Mecocci P., Cherubini A., Beal M.F., Cecchetti R., Chionne F., Polidori M.C., Romano G., Senin U. Altered mitochondrial membrane fluidity in AD brain. Neurosci. Lett. 207:1996;129-132.
-
(1996)
Neurosci. Lett.
, vol.207
, pp. 129-132
-
-
Mecocci, P.1
Cherubini, A.2
Beal, M.F.3
Cecchetti, R.4
Chionne, F.5
Polidori, M.C.6
Romano, G.7
Senin, U.8
-
88
-
-
0029994450
-
The significance of glucose turnover in the brain in the pathogenetic mechanisms of Alzheimer's disease
-
Meier-Ruge W., Bertoni-Freddari C. The significance of glucose turnover in the brain in the pathogenetic mechanisms of Alzheimer's disease. Rev. Neurosci. 7:1996;1-19.
-
(1996)
Rev. Neurosci.
, vol.7
, pp. 1-19
-
-
Meier-Ruge, W.1
Bertoni-Freddari, C.2
-
89
-
-
0024330311
-
Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease
-
Mizuno Y., Ohta S., Tanaka M., Takamiya S., Suzuki K., Sato T., Oya H., Ozawa T., Kagawa Y. Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease. Biochem. Biophys. Res. Commun. 163:1989;1450-1455.
-
(1989)
Biochem. Biophys. Res. Commun.
, vol.163
, pp. 1450-1455
-
-
Mizuno, Y.1
Ohta, S.2
Tanaka, M.3
Takamiya, S.4
Suzuki, K.5
Sato, T.6
Oya, H.7
Ozawa, T.8
Kagawa, Y.9
-
90
-
-
0029012561
-
Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions
-
Moraes C.T., Sciacco M., Ricci E., Tengan C.H., Hao H., Bonilla E., Schon E.A., DiMauro S. Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions. Muscle Nerve. 3:1995;S150-S153.
-
(1995)
Muscle Nerve
, vol.3
-
-
Moraes, C.T.1
Sciacco, M.2
Ricci, E.3
Tengan, C.H.4
Hao, H.5
Bonilla, E.6
Schon, E.A.7
DiMauro, S.8
-
91
-
-
0027462797
-
The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke
-
Mosewich R.K., Donat J.R., DiMauro S., Ciafaloni E., Shanske S., Erasmus M., George D. The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke. Arch. Neurol. 50:1993;275-278.
-
(1993)
Arch. Neurol.
, vol.50
, pp. 275-278
-
-
Mosewich, R.K.1
Donat, J.R.2
DiMauro, S.3
Ciafaloni, E.4
Shanske, S.5
Erasmus, M.6
George, D.7
-
92
-
-
0028847821
-
Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy
-
Moudy A.M., Handran S.D., Goldberg M.P., Ruffin N., Karl I., Kranz-Eble P., DeVivo D.C., Rothman S.M. Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy. Proc. Natl. Acad. Sci. USA. 92:1995;729-733.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 729-733
-
-
Moudy, A.M.1
Handran, S.D.2
Goldberg, M.P.3
Ruffin, N.4
Karl, I.5
Kranz-Eble, P.6
DeVivo, D.C.7
Rothman, S.M.8
-
93
-
-
0027476395
-
The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages
-
Munscher C., Rieger T., Muller-Hocker J., Kadenbach B. The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages. FEBS Lett. 317:1993;27-30.
-
(1993)
FEBS Lett.
, vol.317
, pp. 27-30
-
-
Munscher, C.1
Rieger, T.2
Muller-Hocker, J.3
Kadenbach, B.4
-
94
-
-
0030272062
-
Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation
-
Murakami T., Mita S., Tokunaga M., Maeda H., Ueyama H., Kumamoto T., Uchino M., Ando M. Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation. J. Neurol. Sci. 142:1996;111-113.
-
(1996)
J. Neurol. Sci.
, vol.142
, pp. 111-113
-
-
Murakami, T.1
Mita, S.2
Tokunaga, M.3
Maeda, H.4
Ueyama, H.5
Kumamoto, T.6
Uchino, M.7
Ando, M.8
-
95
-
-
0028556287
-
Impaired oxidative decarboxylation of pyruvate in fibroblasts from patients with Parkinson's disease
-
Mytilineou C., Werner P., Molinari S., Di Rocco A., Cohen G., Yahr M.D. Impaired oxidative decarboxylation of pyruvate in fibroblasts from patients with Parkinson's disease. J. Neural Transm. 8:1994;223-228.
-
(1994)
J. Neural Transm.
, vol.8
, pp. 223-228
-
-
Mytilineou, C.1
Werner, P.2
Molinari, S.3
Di Rocco, A.4
Cohen, G.5
Yahr, M.D.6
-
96
-
-
0029145589
-
A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome
-
Nakamura M., Nakano S., Goto Y., Ozawa M., Nagahama Y., Fukuyama H., Akiguchi I., Kaji R., Kimura J. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. Biochem. Biophys. Res. Commun. 214:1995;86-93.
-
(1995)
Biochem. Biophys. Res. Commun.
, vol.214
, pp. 86-93
-
-
Nakamura, M.1
Nakano, S.2
Goto, Y.3
Ozawa, M.4
Nagahama, Y.5
Fukuyama, H.6
Akiguchi, I.7
Kaji, R.8
Kimura, J.9
-
97
-
-
0027180961
-
Leber's hereditary optic neuropathy. New genetic considerations
-
Newman N.J. Leber's hereditary optic neuropathy. New genetic considerations. Arch. Neurol. 50:1993;540-548.
-
(1993)
Arch. Neurol.
, vol.50
, pp. 540-548
-
-
Newman, N.J.1
-
98
-
-
0028102523
-
Pre-excitation syndrome in Leber's hereditary optic neuropathy
-
Nikoskelainen E.K., Savontaus M.L., Huoponen K., Antila K., Hartiala J. Pre-excitation syndrome in Leber's hereditary optic neuropathy. Lancet. 344:1994;857-858.
-
(1994)
Lancet
, vol.344
, pp. 857-858
-
-
Nikoskelainen, E.K.1
Savontaus, M.L.2
Huoponen, K.3
Antila, K.4
Hartiala, J.5
-
99
-
-
0029883737
-
Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations
-
Nikoskelainen E.K., Huoponen K., Juvonen V., Lamminen T., Nummelin K., Savontaus M.L. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology. 103:1996;504-514.
-
(1996)
Ophthalmology
, vol.103
, pp. 504-514
-
-
Nikoskelainen, E.K.1
Huoponen, K.2
Juvonen, V.3
Lamminen, T.4
Nummelin, K.5
Savontaus, M.L.6
-
100
-
-
0029822865
-
The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)
-
Nishino I., Komatsu M., Kodama S., Horai S., Nonaka I., Goto Y. The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Muscle Nerve. 19:1996;1603-1604.
-
(1996)
Muscle Nerve
, vol.19
, pp. 1603-1604
-
-
Nishino, I.1
Komatsu, M.2
Kodama, S.3
Horai, S.4
Nonaka, I.5
Goto, Y.6
-
101
-
-
0029146967
-
Tissue distribution and disease manifestations of the tRNA(Lys) A→G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres
-
Oldfors A., Holme E., Tulinius M., Larsson N.G. Tissue distribution and disease manifestations of the tRNA(Lys) A→G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres. Acta Neuropathol. 90:1995;328-333.
-
(1995)
Acta Neuropathol.
, vol.90
, pp. 328-333
-
-
Oldfors, A.1
Holme, E.2
Tulinius, M.3
Larsson, N.G.4
-
102
-
-
0029925130
-
No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers
-
Oostra R.J., Kemp S., Bolhuis P.A., Bleeker-Wagemakers E.M. No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers. Hum. Genet. 97:1996;500-505.
-
(1996)
Hum. Genet.
, vol.97
, pp. 500-505
-
-
Oostra, R.J.1
Kemp, S.2
Bolhuis, P.A.3
Bleeker-Wagemakers, E.M.4
-
103
-
-
0028023770
-
Early retinal involvement in mitochondrial myopathy with mitochondrial DNA deletion
-
Ota Y., Miyake Y., Awaya S., Kumagai T., Tanaka M., Ozawa T. Early retinal involvement in mitochondrial myopathy with mitochondrial DNA deletion. Retina. 14:1994;270-276.
-
(1994)
Retina
, vol.14
, pp. 270-276
-
-
Ota, Y.1
Miyake, Y.2
Awaya, S.3
Kumagai, T.4
Tanaka, M.5
Ozawa, T.6
-
104
-
-
0027968580
-
The high prevalence of the diabetic patients with a mutation in the mitochondrial gene in Japan
-
Otabe S., Sakura H., Shimokawa K., Mori Y., Kadowaki H., Yasuda K., Nonaka K., Hagura R., Akanuma Y., Yazaki Y., Kadowaki T. The high prevalence of the diabetic patients with a mutation in the mitochondrial gene in Japan. J. Clin. Endocrinol. Metab. 79:1994;768-771.
-
(1994)
J. Clin. Endocrinol. Metab.
, vol.79
, pp. 768-771
-
-
Otabe, S.1
Sakura, H.2
Shimokawa, K.3
Mori, Y.4
Kadowaki, H.5
Yasuda, K.6
Nonaka, K.7
Hagura, R.8
Akanuma, Y.9
Yazaki, Y.10
Kadowaki, T.11
-
105
-
-
0028811504
-
The 8344 mutation in mitochondrial DNA: A comparison between the proportion of mutant DNA and clinico-pathologic findings
-
Ozawa M., Goto Y., Sakuta R., Tanno Y., Tsuji S., Nonaka I. The 8344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings. Neuromusc. Disord. 5:1995;483-488.
-
(1995)
Neuromusc. Disord.
, vol.5
, pp. 483-488
-
-
Ozawa, M.1
Goto, Y.2
Sakuta, R.3
Tanno, Y.4
Tsuji, S.5
Nonaka, I.6
-
106
-
-
0025149002
-
Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis
-
Ozawa T., Tanaka M., Ikebe S., Ohno K., Kondo T., Mizuno Y. Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis. Biochem. Biophys. Res. Commun. 172:1990;483-489.
-
(1990)
Biochem. Biophys. Res. Commun.
, vol.172
, pp. 483-489
-
-
Ozawa, T.1
Tanaka, M.2
Ikebe, S.3
Ohno, K.4
Kondo, T.5
Mizuno, Y.6
-
108
-
-
0027715229
-
Lack of evidence for maternal effect in familial Alzheimer's disease
-
Payami H., Hoffbuhr K. Lack of evidence for maternal effect in familial Alzheimer's disease. Genet. Epidemiol. 10:1993;461-464.
-
(1993)
Genet. Epidemiol.
, vol.10
, pp. 461-464
-
-
Payami, H.1
Hoffbuhr, K.2
-
109
-
-
0029738581
-
Mutational hot-spots in the mitochondrial microcosm
-
Pääbo S. Mutational hot-spots in the mitochondrial microcosm. Am. J. Hum. Genet. 59:1996;493-496.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 493-496
-
-
Pääbo, S.1
-
110
-
-
0030049093
-
X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant
-
Pegoraro E., Carelli V., Zeviani M., Cortelli P., Montagna P., Barboni P., Angelini C., Hoffman E.P. X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. Am. J. Med. Genet. 61:1996;356-362.
-
(1996)
Am. J. Med. Genet.
, vol.61
, pp. 356-362
-
-
Pegoraro, E.1
Carelli, V.2
Zeviani, M.3
Cortelli, P.4
Montagna, P.5
Barboni, P.6
Angelini, C.7
Hoffman, E.P.8
-
111
-
-
0029396976
-
Generalized mitochondrial dysfunction in Parkinson's disease detected by magnetic resonance spectroscopy of muscle
-
Penn A.M., Roberts T., Hodder J., Allen P.S., Zhu G., Martin W.R. Generalized mitochondrial dysfunction in Parkinson's disease detected by magnetic resonance spectroscopy of muscle. Neurology. 45:1995;2097-2099.
-
(1995)
Neurology
, vol.45
, pp. 2097-2099
-
-
Penn, A.M.1
Roberts, T.2
Hodder, J.3
Allen, P.S.4
Zhu, G.5
Martin, W.R.6
-
112
-
-
0024499802
-
Duplications of mitochondrial DNA in mitochondrial myopathy
-
Poulton J., Deadman M.E., Gardiner R.M. Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet. 1:1989;236-240.
-
(1989)
Lancet
, vol.1
, pp. 236-240
-
-
Poulton, J.1
Deadman, M.E.2
Gardiner, R.M.3
-
113
-
-
0028286575
-
Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?
-
Poulton J., Morten K.J., Weber K., Brown G.K., Bindoff L. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Hum. Mol. Genet. 3:1994;947-951.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 947-951
-
-
Poulton, J.1
Morten, K.J.2
Weber, K.3
Brown, G.K.4
Bindoff, L.5
-
114
-
-
0028998413
-
Duplications of mitochondrial DNA in Kearns-Sayre syndrome
-
Poulton J., Morten K.J., Marchington D., Weber K., Brown G.K., Rotig A., Bindoff L. Duplications of mitochondrial DNA in Kearns-Sayre syndrome. Muscle Nerve. 3:1995;S154-S158.
-
(1995)
Muscle Nerve
, vol.3
-
-
Poulton, J.1
Morten, K.J.2
Marchington, D.3
Weber, K.4
Brown, G.K.5
Rotig, A.6
Bindoff, L.7
-
115
-
-
0028606202
-
Mitochondrial enzyme deficiencies in Down's syndrome
-
Prince J., Jia S., Bave U., Anneren G., Oreland L. Mitochondrial enzyme deficiencies in Down's syndrome. J. Neural Transm. 8:1994;171-181.
-
(1994)
J. Neural Transm.
, vol.8
, pp. 171-181
-
-
Prince, J.1
Jia, S.2
Bave, U.3
Anneren, G.4
Oreland, L.5
-
116
-
-
0027237634
-
Analyses of energy metabolism and mitochondrial genome in post-mortem brain from patients with Alzheimer's disease
-
Reichmann H., Florke S., Hebenstreit G., Schrubar H., Riederer P. Analyses of energy metabolism and mitochondrial genome in post-mortem brain from patients with Alzheimer's disease. J. Neurol. 240:1993;377-380.
-
(1993)
J. Neurol.
, vol.240
, pp. 377-380
-
-
Reichmann, H.1
Florke, S.2
Hebenstreit, G.3
Schrubar, H.4
Riederer, P.5
-
117
-
-
0027980845
-
Association of deletion and homoplasmic point mutation of the mitochondrial DNA in an ocular myopathy
-
Reynier P., Figarella-Branger D., Serratrice G., Charvet B., Malthiery Y. Association of deletion and homoplasmic point mutation of the mitochondrial DNA in an ocular myopathy. Biochem. Biophys. Res. Commun. 202:1994;1606-1611.
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.202
, pp. 1606-1611
-
-
Reynier, P.1
Figarella-Branger, D.2
Serratrice, G.3
Charvet, B.4
Malthiery, Y.5
-
118
-
-
0030273012
-
The Alzheimer diseases
-
Roses A.D. The Alzheimer diseases. Curr. Opin. Neurobiol. 6:1996;644-650.
-
(1996)
Curr. Opin. Neurobiol.
, vol.6
, pp. 644-650
-
-
Roses, A.D.1
-
119
-
-
0031128778
-
A model for susceptibility polymorphisms for complex diseases: Apolipoprotein E and Alzheimer disease
-
Roses A.D. A model for susceptibility polymorphisms for complex diseases: apolipoprotein E and Alzheimer disease. Neurogenetics. 1:1997;3-11.
-
(1997)
Neurogenetics
, vol.1
, pp. 3-11
-
-
Roses, A.D.1
-
120
-
-
0029064007
-
Demyelinating polyneuropathy in a patient with the tRNA(Leu)(UUR) mutation at base pair 3243 of the mitochondrial DNA
-
Rusanen H., Majamaa K., Tolonen U., Remes A.M., Myllyla R., Hassinen I.E. Demyelinating polyneuropathy in a patient with the tRNA(Leu)(UUR) mutation at base pair 3243 of the mitochondrial DNA. Neurology. 45:1995;1188-1192.
-
(1995)
Neurology
, vol.45
, pp. 1188-1192
-
-
Rusanen, H.1
Majamaa, K.2
Tolonen, U.3
Remes, A.M.4
Myllyla, R.5
Hassinen, I.E.6
-
121
-
-
0027533867
-
Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A comparative study
-
Sakuta R., Goto Y., Horai S., Nonaka I. Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study. J. Neurol. Sci. 115:1993;158-160.
-
(1993)
J. Neurol. Sci.
, vol.115
, pp. 158-160
-
-
Sakuta, R.1
Goto, Y.2
Horai, S.3
Nonaka, I.4
-
122
-
-
0029877629
-
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation
-
Santorelli F.M., Mak S.C., Vazquez-Memije E., Shanske S., Kranz-Eble P., Jain K.D., Bluestone D.L., De Vivo D.C., DiMauro S. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. Pediatr. Res. 39:1996;914-917.
-
(1996)
Pediatr. Res.
, vol.39
, pp. 914-917
-
-
Santorelli, F.M.1
Mak, S.C.2
Vazquez-Memije, E.3
Shanske, S.4
Kranz-Eble, P.5
Jain, K.D.6
Bluestone, D.L.7
De Vivo, D.C.8
DiMauro, S.9
-
123
-
-
0028030728
-
A mitochondrial tRNA(Leu)(UUR) mutation at 3256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
-
Sato W., Hayasaka K., Shoji Y., Takahashi T., Takada G., Saito M., Fukawa O., Wachi E. A mitochondrial tRNA(Leu)(UUR) mutation at 3256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem. Mol. Biol. Int. 33:1994;1055-1061.
-
(1994)
Biochem. Mol. Biol. Int.
, vol.33
, pp. 1055-1061
-
-
Sato, W.1
Hayasaka, K.2
Shoji, Y.3
Takahashi, T.4
Takada, G.5
Saito, M.6
Fukawa, O.7
Wachi, E.8
-
124
-
-
0029029478
-
MtDNA mutations in Leber's hereditary optic neuropathy
-
Savontaus M.L. mtDNA mutations in Leber's hereditary optic neuropathy. Biochim. Biophys. Acta. 1271:1995;261-263.
-
(1995)
Biochim. Biophys. Acta
, vol.1271
, pp. 261-263
-
-
Savontaus, M.L.1
-
125
-
-
0024390719
-
Mitochondrial complex I deficiency in Parkinson's disease
-
Schapira, A.H.V., Cooper, J.M., Dexter, D., Jenner, P., Clark, J.B., Marsden, C.D., 1989. Mitochondrial complex I deficiency in Parkinson's disease. Lancet i, 1269.
-
(1989)
Lancet
, vol.1
, pp. 1269
-
-
Schapira, A.H.V.1
Cooper, J.M.2
Dexter, D.3
Jenner, P.4
Clark, J.B.5
Marsden, C.D.6
-
126
-
-
0025640845
-
Anatomic and disease specificity of NADH CoQ1 reductase (complex I) deficiency in Parkinson's disease
-
Schapira A.H.V., Mann V.M., Cooper J.M., Dexter D., Daniel S.E., Jenner P., Clark J.B., Marsden C.D. Anatomic and disease specificity of NADH CoQ1 reductase (complex I) deficiency in Parkinson's disease. J. Neurochem. 55:1990;2142-2145.
-
(1990)
J. Neurochem.
, vol.55
, pp. 2142-2145
-
-
Schapira, A.H.V.1
Mann, V.M.2
Cooper, J.M.3
Dexter, D.4
Daniel, S.E.5
Jenner, P.6
Clark, J.B.7
Marsden, C.D.8
-
127
-
-
0028274216
-
Evidence for mitochondrial dysfunction in Parkinson's disease - A critical appraisal
-
Schapira A.H.V. Evidence for mitochondrial dysfunction in Parkinson's disease - a critical appraisal. Move. Disord. 9:1994;125-138.
-
(1994)
Move. Disord.
, vol.9
, pp. 125-138
-
-
Schapira, A.H.V.1
-
128
-
-
0010614315
-
Mitochondria - The next 100 years
-
Schatz G. Mitochondria - the next 100 years. KargerGaz. 58:1994;1-2.
-
(1994)
KargerGaz.
, vol.58
, pp. 1-2
-
-
Schatz, G.1
-
130
-
-
0001780615
-
Mitochondria
-
DiMauro, S., Wallace, D.C. (Eds.) Raven Press, New York
-
Schon, E.A., 1993. Mitochondria. In: DiMauro, S., Wallace, D.C. (Eds.), Mitochondrial DNA in Human Pathology. Raven Press, New York, pp. 1-7.
-
(1993)
Mitochondrial DNA in Human Pathology
, pp. 1-7
-
-
Schon, E.A.1
-
131
-
-
0003085988
-
Mitochondrial DNA and the genetics of mitochondrial disease
-
Schapira, A.H.V., DiMauro, S., (Eds.) Butterworth-Heinemann, Oxford
-
Schon, E.A., 1994. Mitochondrial DNA and the genetics of mitochondrial disease. In: Schapira, A.H.V., DiMauro, S., (Eds.), Mitochondrial Disorders in Neurology. Butterworth-Heinemann, Oxford, pp. 31-48.
-
(1994)
Mitochondrial Disorders in Neurology
, pp. 31-48
-
-
Schon, E.A.1
-
132
-
-
0031128798
-
Oxidative phosphorylation defects and Alzheimer's disease
-
Shoffner J.M. Oxidative phosphorylation defects and Alzheimer's disease. Neurogenetics. 1:1997;13-19.
-
(1997)
Neurogenetics
, vol.1
, pp. 13-19
-
-
Shoffner, J.M.1
-
133
-
-
0027200741
-
Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients
-
Shoffner J.M., Brown M.D., Torroni A., Lott M.T., Cabell M.F., Mirra S.S., Beal M.F., Yang C.C., Gearing M., Salvo R., Watts R.L., Juncos J.L., Hansen L.A., Crain B.J., Fayad M., Reckord C.L., Wallace D.C. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics. 17:1993;171-184.
-
(1993)
Genomics
, vol.17
, pp. 171-184
-
-
Shoffner, J.M.1
Brown, M.D.2
Torroni, A.3
Lott, M.T.4
Cabell, M.F.5
Mirra, S.S.6
Beal, M.F.7
Yang, C.C.8
Gearing, M.9
Salvo, R.10
Watts, R.L.11
Juncos, J.L.12
Hansen, L.A.13
Crain, B.J.14
Fayad, M.15
Reckord, C.L.16
Wallace, D.C.17
-
134
-
-
0028887910
-
Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene
-
Shoffner J.M., Bialer M.G., Pavlakis S.G., Lott M., Kaufman A., Dixon J., Teichberg S., Wallace D.C. Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene. Neurology. 45:1995;286-292.
-
(1995)
Neurology
, vol.45
, pp. 286-292
-
-
Shoffner, J.M.1
Bialer, M.G.2
Pavlakis, S.G.3
Lott, M.4
Kaufman, A.5
Dixon, J.6
Teichberg, S.7
Wallace, D.C.8
-
135
-
-
0028023533
-
Functional alterations in Alzheimer's disease: Selective loss of mitochondrial-encoded cytochrome oxidase mRNA in the hippocampal formation
-
Simonian N.A., Hyman B.T. Functional alterations in Alzheimer's disease: selective loss of mitochondrial-encoded cytochrome oxidase mRNA in the hippocampal formation. J. Neuropathol. Exp. Neurol. 53:1994;508-512.
-
(1994)
J. Neuropathol. Exp. Neurol.
, vol.53
, pp. 508-512
-
-
Simonian, N.A.1
Hyman, B.T.2
-
136
-
-
0030279938
-
Clinical picture of a case of diabetes with mitochondrial transfer-RNA mutation at position-3271
-
Suzuki Y., Tsukuda K., Atsumi Y., Goto Y., Hosokawa K., Asahina T., Nonaka I., Matsuoka K., Oka Y. Clinical picture of a case of diabetes with mitochondrial transfer-RNA mutation at position-3271. Diabetes Care. 19:1996;1304-1305.
-
(1996)
Diabetes Care
, vol.19
, pp. 1304-1305
-
-
Suzuki, Y.1
Tsukuda, K.2
Atsumi, Y.3
Goto, Y.4
Hosokawa, K.5
Asahina, T.6
Nonaka, I.7
Matsuoka, K.8
Oka, Y.9
-
137
-
-
0029908226
-
Origin and functional consequences of the complex I defect in Parkinson's disease
-
Swerdlow R.H., Parks J.K., Miller S.W., Tuttle J.B., Trimmer P.A., Sheehan J.P., Bennett J.P. Jr., Davis R.E., Parker W.D. Jr. Origin and functional consequences of the complex I defect in Parkinson's disease. Ann. Neurol. 40:1996;663-671.
-
(1996)
Ann. Neurol.
, vol.40
, pp. 663-671
-
-
Swerdlow, R.H.1
Parks, J.K.2
Miller, S.W.3
Tuttle, J.B.4
Trimmer, P.A.5
Sheehan, J.P.6
Bennett J.P., Jr.7
Davis, R.E.8
Parker W.D., Jr.9
-
138
-
-
0026013299
-
Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
-
Tanaka M., Ino H., Ohno K., Ohbayashi T., Ikebe S., Sano T., Ichiki T., Kobayashi M., Wada Y., Ozawa T. Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem. Biophys. Res. Commun. 174:1991;861-868.
-
(1991)
Biochem. Biophys. Res. Commun.
, vol.174
, pp. 861-868
-
-
Tanaka, M.1
Ino, H.2
Ohno, K.3
Ohbayashi, T.4
Ikebe, S.5
Sano, T.6
Ichiki, T.7
Kobayashi, M.8
Wada, Y.9
Ozawa, T.10
-
139
-
-
0027158055
-
Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients
-
Tanno Y., Yoneda M., Tanaka K., Kondo R., Hozumi I., Wakabayashi K., Yamada M., Fukuhara N., Ikuta F., Tsuji S. Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients. Neurology. 43:1993;1198-1200.
-
(1993)
Neurology
, vol.43
, pp. 1198-1200
-
-
Tanno, Y.1
Yoneda, M.2
Tanaka, K.3
Kondo, R.4
Hozumi, I.5
Wakabayashi, K.6
Yamada, M.7
Fukuhara, N.8
Ikuta, F.9
Tsuji, S.10
-
140
-
-
0027244336
-
The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria
-
Tatuch Y., Robinson B.H. The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem. Biophys. Res. Commun. 192:1993;124-128.
-
(1993)
Biochem. Biophys. Res. Commun.
, vol.192
, pp. 124-128
-
-
Tatuch, Y.1
Robinson, B.H.2
-
141
-
-
0029787365
-
MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA
-
Taylor R.W., Chinnery P.F., Haldane F., Morris A.A., Bindoff L.A., Wilson J., Turnbull D.M. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA. Ann. Neurol. 40:1996;459-462.
-
(1996)
Ann. Neurol.
, vol.40
, pp. 459-462
-
-
Taylor, R.W.1
Chinnery, P.F.2
Haldane, F.3
Morris, A.A.4
Bindoff, L.A.5
Wilson, J.6
Turnbull, D.M.7
-
142
-
-
0030468182
-
Classification of European mtDNAs from an analysis of three European populations
-
Torroni A., Huoponen K., Francalacci P., Petrozzi M., Morelli L., Scozzari R., Obinu D., Savontaus M.L., Wallace D.C. Classification of European mtDNAs from an analysis of three European populations. Genetics. 144:1996;1835-1850.
-
(1996)
Genetics
, vol.144
, pp. 1835-1850
-
-
Torroni, A.1
Huoponen, K.2
Francalacci, P.3
Petrozzi, M.4
Morelli, L.5
Scozzari, R.6
Obinu, D.7
Savontaus, M.L.8
Wallace, D.C.9
-
143
-
-
0030299996
-
The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years
-
Tysoe C., Robinson D., Brayne C., Dening T., Paykel E.S., Huppert F.A., Rubinsztein D.C. The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years. J. Med. Genet. 33:1996;1002-1006.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 1002-1006
-
-
Tysoe, C.1
Robinson, D.2
Brayne, C.3
Dening, T.4
Paykel, E.S.5
Huppert, F.A.6
Rubinsztein, D.C.7
-
144
-
-
0028365102
-
Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene
-
van den Ouweland J.M., Lemkes H.H., Trembath R.C., Ross R., Velho G., Cohen D., Froguel P., Maassen J.A. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene. Diabetes. 43:1994;746-751.
-
(1994)
Diabetes
, vol.43
, pp. 746-751
-
-
Van Den Ouweland, J.M.1
Lemkes, H.H.2
Trembath, R.C.3
Ross, R.4
Velho, G.5
Cohen, D.6
Froguel, P.7
Maassen, J.A.8
-
145
-
-
0029953124
-
A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation
-
Verma A., Moraes C.T., Shebert R.T., Bradley W.G. A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation. Neurology. 46:1996;1334-1336.
-
(1996)
Neurology
, vol.46
, pp. 1334-1336
-
-
Verma, A.1
Moraes, C.T.2
Shebert, R.T.3
Bradley, W.G.4
-
146
-
-
0000753933
-
Ein ungewöhnlicher Fall von hereditärer Amaurose
-
von Graefe A. Ein ungewöhnlicher Fall von hereditärer Amaurose. Arch. Ophthalmol. 4:1858;266-268.
-
(1858)
Arch. Ophthalmol.
, vol.4
, pp. 266-268
-
-
Von Graefe, A.1
-
147
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G., Lezza A.M.S., Elsas L.J., Nikoskelainen E.K. 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.S.6
Elsas, L.J.7
Nikoskelainen, E.K.8
-
148
-
-
0026624980
-
Diseases of the mitochondrial DNA
-
Wallace D.C. Diseases of the mitochondrial DNA. Annu. Rev. Biochem. 61:1992;1175-1212.
-
(1992)
Annu. Rev. Biochem.
, vol.61
, pp. 1175-1212
-
-
Wallace, D.C.1
-
149
-
-
0027512874
-
Mitochondrial diseases - Genotype versus phenotype
-
Wallace D.C. Mitochondrial diseases - genotype versus phenotype. Trends Genet. 9:1993;128-133.
-
(1993)
Trends Genet.
, vol.9
, pp. 128-133
-
-
Wallace, D.C.1
-
150
-
-
0028843809
-
No association found between Alzheimer's disease and a mitochondrial tRNA glutamine gene variant
-
Wragg M.A., Talbot C.J., Morris J.C., Lendon C.L., Goate A.M. No association found between Alzheimer's disease and a mitochondrial tRNA glutamine gene variant. Neurosci. Lett. 201:1995;107-110.
-
(1995)
Neurosci. Lett.
, vol.201
, pp. 107-110
-
-
Wragg, M.A.1
Talbot, C.J.2
Morris, J.C.3
Lendon, C.L.4
Goate, A.M.5
-
151
-
-
0030053091
-
Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy
-
Yen M.Y., Lee H.C., Liu J.H., Wei Y.H. Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy. Br. J. Ophthalmol. 80:1996;78-81.
-
(1996)
Br. J. Ophthalmol.
, vol.80
, pp. 78-81
-
-
Yen, M.Y.1
Lee, H.C.2
Liu, J.H.3
Wei, Y.H.4
-
152
-
-
0027497409
-
The possible role of iron in the etiopathology of Parkinson's disease
-
Youdim M.B., Ben-Shachar D., Riederer P. The possible role of iron in the etiopathology of Parkinson's disease. Move. Disord. 8:1993;1-12.
-
(1993)
Move. Disord.
, vol.8
, pp. 1-12
-
-
Youdim, M.B.1
Ben-Shachar, D.2
Riederer, P.3
-
153
-
-
0027865639
-
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene
-
Zeviani M., Muntoni F., Savarese N., Serra G., Tiranti V., Carrara F., Mariotti C., DiDonato S. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur. J. Hum. Genet. 1:1993;80-87.
-
(1993)
Eur. J. Hum. Genet.
, vol.1
, pp. 80-87
-
-
Zeviani, M.1
Muntoni, F.2
Savarese, N.3
Serra, G.4
Tiranti, V.5
Carrara, F.6
Mariotti, C.7
DiDonato, S.8
|