메뉴 건너뛰기




Volumn 10, Issue 3, 2003, Pages 200-209

Mitochondrial Disorders and Ataxia

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; UBIDECARENONE;

EID: 0242691989     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1071-9091(03)00029-9     Document Type: Article
Times cited : (9)

References (27)
  • 1
    • 0033525773 scopus 로고    scopus 로고
    • Mitochondrial diseases in mouse and man
    • Wallace DC: Mitochondrial diseases in mouse and man. Science 283:1482-1488, 1999
    • (1999) Science , vol.283 , pp. 1482-1488
    • Wallace, D.C.1
  • 2
    • 0032044694 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies: Gene mutations
    • Servidei S: Mitochondrial encephalomyopathies: Gene mutations. Neuromuscul Disord 8:18-19, 1998
    • (1998) Neuromuscul Disord , vol.8 , pp. 18-19
    • Servidei, S.1
  • 4
    • 0034770539 scopus 로고    scopus 로고
    • Histopathological features of peripheral nerve and muscle in mitochondrial disease
    • Sladky JT: Histopathological features of peripheral nerve and muscle in mitochondrial disease. Semin Neurol 21:293-301. 2001
    • (2001) Semin Neurol , vol.21 , pp. 293-301
    • Sladky, J.T.1
  • 5
    • 0022344135 scopus 로고
    • The retinal manifestations of mitochondrial myopathy
    • Mullie MA, Harding AE, Petty RKH, et al: The retinal manifestations of mitochondrial myopathy. Arch Ophthalmol 103:1825-1830, 1985
    • (1985) Arch Ophthalmol , vol.103 , pp. 1825-1830
    • Mullie, M.A.1    Harding, A.E.2    Petty, R.K.H.3
  • 6
    • 0033976931 scopus 로고    scopus 로고
    • The spectrum of hearing loss due to mitochondrial DNA defects
    • Chinnery PF, Elliot C, Green GR, et al: The spectrum of hearing loss due to mitochondrial DNA defects. Brain 123:82-92, 2000
    • (2000) Brain , vol.123 , pp. 82-92
    • Chinnery, P.F.1    Elliot, C.2    Green, G.R.3
  • 7
    • 0018752988 scopus 로고
    • Cardiac conduction in the Kearns-Sayre syndrome. Report of 2 cases and review of 17 published cases
    • Roberts NK, Perloff JK, Kark RA: Cardiac conduction in the Kearns-Sayre syndrome. Report of 2 cases and review of 17 published cases. Am J Cardiol 44:1396-1400, 1979
    • (1979) Am J Cardiol , vol.44 , pp. 1396-1400
    • Roberts, N.K.1    Perloff, J.K.2    Kark, R.A.3
  • 8
    • 0029077496 scopus 로고
    • The mitochondrial DNA transfer RNALeu(UUR)A-G(3243) mutation. A clinical and genetic study
    • Hammans SR. Sweeney MG, Hanna MG, et al: The mitochondrial DNA transfer RNALeu(UUR)A-G(3243) mutation. A clinical and genetic study. Brain 118:721-734, 1995
    • (1995) Brain , vol.118 , pp. 721-734
    • Hammans, S.R.1    Sweeney, M.G.2    Hanna, M.G.3
  • 9
    • 0029999205 scopus 로고    scopus 로고
    • Renal involvement in mitochondrial cytopathies
    • Niadet P, Rotig A: Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 10:268-273, 1996
    • (1996) Pediatr Nephrol , vol.10 , pp. 268-273
    • Niadet, P.1    Rotig, A.2
  • 10
    • 0025314193 scopus 로고
    • Renal tubular involvement mimicking Bartter's syndrome in a patient with Kearns-Sayre syndrome
    • Goto Y, Itami N, Kaji N, et al: Renal tubular involvement mimicking Bartter's syndrome in a patient with Kearns-Sayre syndrome. J Pediatr 116:904-910, 1990
    • (1990) J Pediatr , vol.116 , pp. 904-910
    • Goto, Y.1    Itami, N.2    Kaji, N.3
  • 11
    • 0033007687 scopus 로고    scopus 로고
    • Mitochondria and childhood liver diseases
    • Sokol RJ: Mitochondria and childhood liver diseases. J Pediatr Gastroenterol Nutr 28:4-16, 1999
    • (1999) J Pediatr Gastroenterol Nutr , vol.28 , pp. 4-16
    • Sokol, R.J.1
  • 12
    • 0031874059 scopus 로고    scopus 로고
    • Neuroradiological features of six kindreds with MELAS tRNA A3243G point mutation: Implications for pathogenesis
    • Sue CM, Crimmins DS, Soo YS, et al: Neuroradiological features of six kindreds with MELAS tRNA A3243G point mutation: Implications for pathogenesis. J Neurol Neurosurg Psychiatry 65:233-240, 1998
    • (1998) J Neurol Neurosurg Psychiatry , vol.65 , pp. 233-240
    • Sue, C.M.1    Crimmins, D.S.2    Soo, Y.S.3
  • 13
    • 0022497643 scopus 로고    scopus 로고
    • Magnetic resonance imaging in subacute necrotizing encephalomyelopathy (Leigh disease)
    • Koch TK, Yee MH, Hutchinson HT, et al: Magnetic resonance imaging in subacute necrotizing encephalomyelopathy (Leigh disease). Ann Neurol 19:605-607, 1998
    • (1998) Ann Neurol , vol.19 , pp. 605-607
    • Koch, T.K.1    Yee, M.H.2    Hutchinson, H.T.3
  • 14
    • 0002655063 scopus 로고    scopus 로고
    • Metabolic, structural and neuropsychological deficits in mitochondrial encephalopathies assessed by H MRSI, MRI and neuropsychological testing
    • Shungu DC, Sano M, Miller WS, et al: Metabolic, structural and neuropsychological deficits in mitochondrial encephalopathies assessed by H MRSI, MRI and neuropsychological testing. Proc Int Soc Mag Res Med 7:49, 1999
    • (1999) Proc Int Soc Mag Res Med , vol.7 , pp. 49
    • Shungu, D.C.1    Sano, M.2    Miller, W.S.3
  • 15
    • 0026773036 scopus 로고
    • Endocrine dysfunction in Kearns-Sayre syndrome
    • Harvey JN, Barnett D: Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol 37:97-103, 1992
    • (1992) Clin Endocrinol , vol.37 , pp. 97-103
    • Harvey, J.N.1    Barnett, D.2
  • 16
    • 0024596946 scopus 로고
    • A direct repeal is a hotspot for large-scale deletion of human mitochondrial DNA
    • Schon EA, Rizzuto R, Moraes CT, et al: A direct repeal is a hotspot for large-scale deletion of human mitochondrial DNA. Science 244:346-349, 1989
    • (1989) Science , vol.244 , pp. 346-349
    • Schon, E.A.1    Rizzuto, R.2    Moraes, C.T.3
  • 17
    • 0021143782 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome
    • Pavlakis SG, Phillips PC, DiMauro S, et al: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome. Ann Neurol 16:481-488, 1984
    • (1984) Ann Neurol , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    DiMauro, S.3
  • 18
    • 0025666322 scopus 로고
    • A mutation in the tRNA leucine gene associated with MELAS subgroup of mitochondrial encepahlomyopathies
    • Goto Y, Nonaka I, Horai S: A mutation in the tRNA leucine gene associated with MELAS subgroup of mitochondrial encepahlomyopathies. Nature 348:651-653, 1990
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 19
    • 0342470992 scopus 로고    scopus 로고
    • Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients
    • Borner GV, Zeviani M, Tiranti V. et al: Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum Mol Genet 9:467-75, 2000
    • (2000) Hum Mol Genet , vol.9 , pp. 467-475
    • Borner, G.V.1    Zeviani, M.2    Tiranti, V.3
  • 20
    • 0343254754 scopus 로고
    • Myoclonic epilepsy and ragged red fiber disease (MERRF) is associated with mtDNA tRNS lys mutation
    • Shoffner JM, Lott MT, Lezza AMS, et al: Myoclonic epilepsy and ragged red fiber disease (MERRF) is associated with mtDNA tRNS lys mutation. Cell 51:1213-1217, 1990
    • (1990) Cell , vol.51 , pp. 1213-1217
    • Shoffner, J.M.1    Lott, M.T.2    Lezza, A.M.S.3
  • 21
    • 0031026069 scopus 로고    scopus 로고
    • Myoclonus epilepsy associated with ragged red fibers, a G to A mutation at nucleotide pair 8363 in mitochondrial tRNA (Lys) in two families
    • Ozawa M. Nishino I, Horai S, et al: Myoclonus epilepsy associated with ragged red fibers, a G to A mutation at nucleotide pair 8363 in mitochondrial tRNA (Lys) in two families. Muscle Nerve 20:271-278, 1997
    • (1997) Muscle Nerve , vol.20 , pp. 271-278
    • Ozawa, M.1    Nishino, I.2    Horai, S.3
  • 22
    • 0031769033 scopus 로고    scopus 로고
    • The mitochondrial DNA A 8344G mutation in Leigh syndrome revealed by analysis of paraffin-embedded sections. Revisiting the past
    • Santorelli FM, Tanji K, Shanske S, et al: The mitochondrial DNA A 8344G mutation in Leigh syndrome revealed by analysis of paraffin-embedded sections. Revisiting the past. Ann Neurol 44:962-964, 1998
    • (1998) Ann Neurol , vol.44 , pp. 962-964
    • Santorelli, F.M.1    Tanji, K.2    Shanske, S.3
  • 23
    • 0030749664 scopus 로고    scopus 로고
    • Mitochondrial disease associated with T8993G mutation of the of the mitochondrial ATAPase 6 gene: A clinical, biochemical, and molecular study in six families
    • Uziel G, Moroni I, Lamantea E, et al: Mitochondrial disease associated with T8993G mutation of the of the mitochondrial ATAPase 6 gene: A clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 63:16-22, 1997
    • (1997) J Neurol Neurosurg Psychiatry , vol.63 , pp. 16-22
    • Uziel, G.1    Moroni, I.2    Lamantea, E.3
  • 24
    • 0033039431 scopus 로고    scopus 로고
    • The neurogenic weakness, ataxia and retinitis pigmentosa syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinemia
    • Parfait B, deLonlay P, von Kleist Retrow JC, et al: The neurogenic weakness, ataxia and retinitis pigmentosa syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinemia. Eur J Pediatr 158:55-58, 1999
    • (1999) Eur J Pediatr , vol.158 , pp. 55-58
    • Parfait, B.1    DeLonlay, P.2    Von Kleist Retrow, J.C.3
  • 25
    • 0027451284 scopus 로고
    • The mutation at 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
    • Santorelli FM, Shanske S, Macaya A. et al: The mutation at 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 34:827-834, 1993
    • (1993) Ann Neurol , vol.34 , pp. 827-834
    • Santorelli, F.M.1    Shanske, S.2    Macaya, A.3
  • 26
    • 0035836740 scopus 로고    scopus 로고
    • Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
    • Musumeci O, Naini A, Slonim AE, et al: Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology 56:849-855, 2001
    • (2001) Neurology , vol.56 , pp. 849-855
    • Musumeci, O.1    Naini, A.2    Slonim, A.E.3
  • 27
    • 0037426430 scopus 로고    scopus 로고
    • Cerebellar ataxia and coenzyme Q10 deficiency
    • Lamperti C, Naini A, Hirano M, et al: Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 60:1206-1208, 2003
    • (2003) Neurology , vol.60 , pp. 1206-1208
    • Lamperti, C.1    Naini, A.2    Hirano, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.