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Volumn 153, Issue 2, 1998, Pages 251-263

Recent developments in the molecular genetics of mitochondrial disorders

Author keywords

Cell death; Mitochondrial DNA; Nervous system; Neurodegeneration; Oxidative stress; Respiratory chain

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0032495533     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(97)00295-5     Document Type: Article
Times cited : (68)

References (153)
  • 2
    • 0029003333 scopus 로고
    • 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
  • 4
    • 0027204154 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 8
    • 0029102268 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 14
    • 0028788493 scopus 로고
    • 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
  • 16
    • 0031034482 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 22
    • 0030296713 scopus 로고    scopus 로고
    • 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
  • 25
    • 0029001517 scopus 로고
    • 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
  • 28
    • 0029029471 scopus 로고
    • 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
  • 31
    • 0028272494 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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
  • 35
    • 0030001780 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 41
    • 0029026672 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 48
    • 0029050583 scopus 로고
    • 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
  • 50
    • 0002560834 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 54
    • 0023883150 scopus 로고
    • 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
  • 56
    • 0028928397 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 62
    • 0029965659 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 67
    • 0029010022 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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
  • 73
    • 0030931581 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 79
    • 0029693103 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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
  • 82
    • 0026548217 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 85
    • 0029086201 scopus 로고
    • 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
  • 88
    • 0029994450 scopus 로고    scopus 로고
    • 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
  • 91
    • 0027462797 scopus 로고
    • 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
  • 93
    • 0027476395 scopus 로고
    • 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
  • 95
    • 0028556287 scopus 로고
    • 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
  • 97
    • 0027180961 scopus 로고
    • 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
  • 99
  • 100
    • 0029822865 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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
  • 105
    • 0028811504 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 111
    • 0029396976 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 116
    • 0027237634 scopus 로고
    • 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
  • 118
    • 0030273012 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 123
    • 0028030728 scopus 로고
    • 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 scopus 로고
    • 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
  • 127
    • 0028274216 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 134
    • 0028887910 scopus 로고
    • 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 scopus 로고
    • 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
  • 140
    • 0027244336 scopus 로고
    • 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
  • 143
    • 0030299996 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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
  • 148
    • 0026624980 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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


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