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Volumn 8, Issue 3, 2006, Pages 200-203

NARP syndrome and adult-onset generalised seizures

Author keywords

Adult; Epilepsy; Generalised; Mitochondrial disease; NARP; Retinitis pigmentosa

Indexed keywords

DIAZEPAM; LAMOTRIGINE; VALPROIC ACID;

EID: 33749596336     PISSN: 12949361     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (13)

References (12)
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    • Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation
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    • Desguerre, J.1    Pinton, F.2    Nabbout, R.3
  • 3
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    • Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'
    • Fryer A, Appleton R, Sweeney MG, et al. Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'. Arch Dis Child 1994; 71: 419-22.
    • (1994) Arch Dis Child , vol.71 , pp. 419-422
    • Fryer, A.1    Appleton, R.2    Sweeney, M.G.3
  • 4
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    • A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
    • Holt IJ, Harding AE, Petty RK, et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990; 46: 428-33.
    • (1990) Am J Hum Genet , vol.46 , pp. 428-433
    • Holt, I.J.1    Harding, A.E.2    Petty, R.K.3
  • 5
    • 0028936818 scopus 로고
    • Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome
    • Mäkelä-Bengs P, Suomalainen A, Majander A, et al. Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. Pediatr Res 1995; 37: 634-9.
    • (1995) Pediatr Res , vol.37 , pp. 634-639
    • Mäkelä-Bengs, P.1    Suomalainen, A.2    Majander, A.3
  • 6
    • 0027441181 scopus 로고
    • Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation
    • Ortiz RG, Newman NJ, Shoffner JM, et al. Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. Arch Ophthalmol 1993; 111: 1525-30.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1525-1530
    • Ortiz, R.G.1    Newman, N.J.2    Shoffner, J.M.3
  • 7
    • 0033039431 scopus 로고    scopus 로고
    • The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
    • Parfait B, de Lonlay P, von Kleist-Retzow JC, et al. The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur J Pediatr 1999; 158: 55-8.
    • (1999) Eur J Pediatr , vol.158 , pp. 55-58
    • Parfait, B.1    De Lonlay, P.2    Von Kleist-Retzow, J.C.3
  • 8
    • 0027476863 scopus 로고
    • Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family
    • Puddu P, Barboni P, Mantovani V, et al. Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family. Br J Ophthalmol 1993; 77: 84-8.
    • (1993) Br J Ophthalmol , vol.77 , pp. 84-88
    • Puddu, P.1    Barboni, P.2    Mantovani, V.3
  • 9
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    • Heterogeneous clinical presentation of the mtDNA NARP/T8993C mutation
    • Santorelli FM, Tanji K, Shanske S, et al. Heterogeneous clinical presentation of the mtDNA NARP/T8993C mutation. Neurology 1997; 49: 270-3.
    • (1997) Neurology , vol.49 , pp. 270-273
    • Santorelli, F.M.1    Tanji, K.2    Shanske, S.3
  • 10
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    • Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
    • Tatuch Y, Christodoulou J, Feigenbaum A, et al. Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992; 50: 852-8.
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  • 11
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    • The 8993 mtDNA mutation: Heteroplasmy and clinical presentation in three families
    • Tatuch Y, Pagon RA, Vlcek B, et al. The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families. Eur J Hum Genet 1994; 2: 35-43.
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  • 12
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    • Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: A clinical, biochemical, and molecular study in six families
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.