메뉴 건너뛰기




Volumn 67, Issue 4, 1999, Pages 214-218

Mitochondrial tRNA(Cys) mutation A5823G in a patient with motor neuron disease and temporal lobe epilepsy

Author keywords

Epilepsy; Motor neuron disease; mtDNA; tRNA

Indexed keywords

CYSTEINE TRANSFER RNA;

EID: 0343415549     PISSN: 10152008     EISSN: None     Source Type: Journal    
DOI: 10.1159/000028075     Document Type: Article
Times cited : (9)

References (18)
  • 1
    • 0030945491 scopus 로고    scopus 로고
    • Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
    • Orrell RW, Habgood JJ, Gardiner I, King AW, Bowe FA, Hallewell RA, Marklund SL, Greenwood J, Lane RJ, de Belleroche J: Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology 1997;48:746-751.
    • (1997) Neurology , vol.48 , pp. 746-751
    • Orrell, R.W.1    Habgood, J.J.2    Gardiner, I.3    King, A.W.4    Bowe, F.A.5    Hallewell, R.A.6    Marklund, S.L.7    Greenwood, J.8    Lane, R.J.9    De Belleroche, J.10
  • 2
    • 0032424925 scopus 로고    scopus 로고
    • Molecular analysis of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan
    • Aoki M, Abe K, Itoyama Y: Molecular analysis of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan. Cell Mol Neurobiol 1998; 18:639-647.
    • (1998) Cell Mol Neurobiol , vol.18 , pp. 639-647
    • Aoki, M.1    Abe, K.2    Itoyama, Y.3
  • 3
    • 0026098442 scopus 로고
    • Immunoglobulins from animal models of motor neuron disease and from human amyotrophic lateral sclerosis patients passively transfer physiological abnormalities to the neuromuscular junction
    • Appel SH, Engelhardt JI, Garcia J, Stefani E: Immunoglobulins from animal models of motor neuron disease and from human amyotrophic lateral sclerosis patients passively transfer physiological abnormalities to the neuromuscular junction. Proc Natl Acad Sci USA 1991;88:647-651.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 647-651
    • Appel, S.H.1    Engelhardt, J.I.2    Garcia, J.3    Stefani, E.4
  • 4
    • 0001772455 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis
    • Jackson CE, Bryan WW: Amyotrophic lateral sclerosis. Semin Neurol 1998;18:27-39.
    • (1998) Semin Neurol , vol.18 , pp. 27-39
    • Jackson, C.E.1    Bryan, W.W.2
  • 9
    • 0025368281 scopus 로고
    • Myoclonic epilepsy and ragged red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
    • Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC: Myoclonic epilepsy and ragged red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990;61:931-937.
    • (1990) Cell , vol.61 , pp. 931-937
    • Shoffner, J.M.1    Lott, M.T.2    Lezza, A.M.3    Seibel, P.4    Ballinger, S.W.5    Wallace, D.C.6
  • 12
    • 0030891949 scopus 로고    scopus 로고
    • Application of inhibitor titrations for the detection of oxidative phosphorylation defects in saponin-skinned muscle fibers of patients with mitochondrial diseases
    • Kuznetsov A, Winkler K, Kirches E, Lins H, Feistner H, Kunz WS: Application of inhibitor titrations for the detection of oxidative phosphorylation defects in saponin-skinned muscle fibers of patients with mitochondrial diseases. Biochim Biophys Acta 1997;1360:142-150.
    • (1997) Biochim Biophys Acta , vol.1360 , pp. 142-150
    • Kuznetsov, A.1    Winkler, K.2    Kirches, E.3    Lins, H.4    Feistner, H.5    Kunz, W.S.6
  • 16
    • 0031985058 scopus 로고    scopus 로고
    • Exhaustive scanning approach to screen all mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders
    • Sternberg D, Danan C, Lombes A, Laforet P, Girodon E, Goosens M, Amselen S: Exhaustive scanning approach to screen all mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders. Hum Mol Genet 1998;7:33-42.
    • (1998) Hum Mol Genet , vol.7 , pp. 33-42
    • Sternberg, D.1    Danan, C.2    Lombes, A.3    Laforet, P.4    Girodon, E.5    Goosens, M.6    Amselen, S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.