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Volumn 7, Issue 13, 1998, Pages 2045-2050

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: Evidence for a linked protective factor

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

EID: 7844227669     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.13.2045     Document Type: Article
Times cited : (147)

References (28)
  • 1
    • 0000280462 scopus 로고
    • Deux cas d'atrophie musculaire progressive avec lesions de la substance grise et des faisceaux antero-lateraux de la moelle epiniere
    • Charcot, J.M. and Joffroy, A. (1869) Deux cas d'atrophie musculaire progressive avec lesions de la substance grise et des faisceaux antero-lateraux de la moelle epiniere. Arch. Physiol. Neurol. Pathol., 2, 744.
    • (1869) Arch. Physiol. Neurol. Pathol. , vol.2 , pp. 744
    • Charcot, J.M.1    Joffroy, A.2
  • 2
    • 0029433185 scopus 로고
    • Epidemiology of ALS
    • Nelson, L.M. (1995) Epidemiology of ALS. Clin. Neurosci., 3, 327-331.
    • (1995) Clin. Neurosci. , vol.3 , pp. 327-331
    • Nelson, L.M.1
  • 3
    • 0027401203 scopus 로고
    • Mutations in Cu/Zn Superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • Erratum Nature, 1993, 364, 362
    • Rosen, D.R. et al. (1993) Mutations in Cu/Zn Superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis [see comments]. Nature., 362, 59-62. (Erratum Nature, 1993, 364, 362.)
    • (1993) Nature , vol.362 , pp. 59-62
    • Rosen, D.R.1
  • 4
    • 0029810307 scopus 로고    scopus 로고
    • Genetics of amyotrophic lateral sclerosis
    • Siddique, T. and Deng, H.X. (1996) Genetics of amyotrophic lateral sclerosis. Hum. Mol. Genet., 5, 1465-1470.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1465-1470
    • Siddique, T.1    Deng, H.X.2
  • 5
    • 0030450004 scopus 로고    scopus 로고
    • Cu/Zn Superoxide dismutase gene mutations in amyotrophic lateral sclerosis: Correlation between genotype and clinical features
    • Radunovic, A. and Leigh, P.N. (1996) Cu/Zn Superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J. Neurol. Neurosurg. Psychiat., 61, 565-572.
    • (1996) J. Neurol. Neurosurg. Psychiat. , vol.61 , pp. 565-572
    • Radunovic, A.1    Leigh, P.N.2
  • 7
    • 9544236295 scopus 로고    scopus 로고
    • Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients
    • Andersen, P.M., Forsgren, L., Binzer, M., Nilsson, P., Ala-Hurula, V., Keranen, M.L., Bergmark, L., Saarinen, A., Haltia, T., Tarvainen, I., Kinnunen, E., Udd, B. and Marklund, S.L. (1996) Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain, 119, 1153-1172.
    • (1996) Brain , vol.119 , pp. 1153-1172
    • Andersen, P.M.1    Forsgren, L.2    Binzer, M.3    Nilsson, P.4    Ala-Hurula, V.5    Keranen, M.L.6    Bergmark, L.7    Saarinen, A.8    Haltia, T.9    Tarvainen, I.10    Kinnunen, E.11    Udd, B.12    Marklund, S.L.13
  • 9
    • 0029854883 scopus 로고    scopus 로고
    • D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
    • Robberecht, W., Aguirre, T., Van Den Bosch, L., Tilkin, P., Cassiman, J.J. and Matthijs, G. (1996) D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology. 47, 1336-1339.
    • (1996) Neurology , vol.47 , pp. 1336-1339
    • Robberecht, W.1    Aguirre, T.2    Van Den Bosch, L.3    Tilkin, P.4    Cassiman, J.J.5    Matthijs, G.6
  • 10
    • 0030780350 scopus 로고    scopus 로고
    • SOD-1 and sporadic ALS: Analysis of 155 cases and identification of a novel insertion mutation
    • Jackson, M., Al-Chalabi, A., Enayat, Z.E., Chioza, B., Leigh, P.N. and Morrison, K.E. (1997) SOD-1 and sporadic ALS: analysis of 155 cases and identification of a novel insertion mutation. Ann. Neurol., 42, 803-806.
    • (1997) Ann. Neurol. , vol.42 , pp. 803-806
    • Jackson, M.1    Al-Chalabi, A.2    Enayat, Z.E.3    Chioza, B.4    Leigh, P.N.5    Morrison, K.E.6
  • 12
    • 0030749689 scopus 로고    scopus 로고
    • Normal binding and reactivity of copper in mutant Superoxide dismutase isolated from amyotrophic lateral sclerosis patients
    • Marklund, S.L., Andersen, P.M., Forsgren, L., Nilsson, P., Ohlsson, P.I., Wikander, G. and Oberg, A. (1997) Normal binding and reactivity of copper in mutant Superoxide dismutase isolated from amyotrophic lateral sclerosis patients. J. Neurochem., 69, 675-681.
    • (1997) J. Neurochem. , vol.69 , pp. 675-681
    • Marklund, S.L.1    Andersen, P.M.2    Forsgren, L.3    Nilsson, P.4    Ohlsson, P.I.5    Wikander, G.6    Oberg, A.7
  • 16
    • 0028968329 scopus 로고
    • A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci
    • Terwilliger, J.D. (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am. J. Hum. Genet., 56, 777-787.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 777-787
    • Terwilliger, J.D.1
  • 17
    • 85081422604 scopus 로고    scopus 로고
    • A juvenile onset case of familial amyotrophic lateral sclerosis associated with homozygosity for a mutation in the CuZn-superoxide dismutase gene
    • Abstract Booklet, (abstract)
    • Hayward, C., Minns, R.A., Swingler, R.J. and Brock, D.J.H. (1997) A juvenile onset case of familial amyotrophic lateral sclerosis associated with homozygosity for a mutation in the CuZn-superoxide dismutase gene. In Proceedings of the 8th International Symposium on ALS/MND, Abstract Booklet, p. 109 (abstract).
    • (1997) Proceedings of the 8th International Symposium on ALS/MND , pp. 109
    • Hayward, C.1    Minns, R.A.2    Swingler, R.J.3    Brock, D.J.H.4
  • 18
    • 7844225076 scopus 로고
    • Different phenotype and clinical course in a family with motor neuron disease
    • Kurahashi, K., Okushima, T., Kimura, K., Narita, S. and Matsunaga (1993) Different phenotype and clinical course in a family with motor neuron disease. Med. J. Aomori, 38, 142-146.
    • (1993) Med. J. Aomori , vol.38 , pp. 142-146
    • Kurahashi, K.1    Okushima, T.2    Kimura, K.3    Narita, S.4    Matsunaga5
  • 20
    • 0031015422 scopus 로고    scopus 로고
    • Prognosis in familial amyotrophic lateral sclerosis: Progression and survival in patients with glu100gly and ala4val mutations in Cu, Zn superoxide dismutase
    • Juneja, T., PericakVance, M.A., Laing, N.G., Dave, S. and Siddique, T. (1997) Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu, Zn superoxide dismutase. Neurology, 48, 55-57.
    • (1997) Neurology , vol.48 , pp. 55-57
    • Juneja, T.1    PericakVance, M.A.2    Laing, N.G.3    Dave, S.4    Siddique, T.5
  • 21
    • 0015849518 scopus 로고
    • Population studies in northern Sweden. VI. Polymorphism of superoxide dismutase
    • Beckman, G. (1973) Population studies in northern Sweden. VI. Polymorphism of superoxide dismutase. Hereditas, 73, 305-310.
    • (1973) Hereditas , vol.73 , pp. 305-310
    • Beckman, G.1
  • 22
    • 84932266111 scopus 로고
    • Isozyme variants as markers of population movement in man
    • Makert, CL. (ed.), Academic Press, New York, NY
    • Kirk, R.L. (1974) Isozyme variants as markers of population movement in man. In Makert, CL. (ed.), Genetics and Evolution. Academic Press, New York, NY, pp. 169-180.
    • (1974) Genetics and Evolution , pp. 169-180
    • Kirk, R.L.1
  • 25
    • 84942009468 scopus 로고
    • Esterase D and Superoxide dismutase polymorphisms in Iraq
    • Papiha, S.S. and Al-Agidi, S.K. (1976) Esterase D and Superoxide dismutase polymorphisms in Iraq. Hum. Hered., 26, 394-400.
    • (1976) Hum. Hered. , vol.26 , pp. 394-400
    • Papiha, S.S.1    Al-Agidi, S.K.2
  • 26
    • 0017127007 scopus 로고
    • Superoxide dismutase variants in Newfoundland - A gene from Scandinavia?
    • Carter, N.D., Auton, J.A., Welch, S.G., Marshall, W.H. and Fraser, G.R. (1976) Superoxide dismutase variants in Newfoundland - a gene from Scandinavia? Hum. Hered., 26, 4-7.
    • (1976) Hum. Hered. , vol.26 , pp. 4-7
    • Carter, N.D.1    Auton, J.A.2    Welch, S.G.3    Marshall, W.H.4    Fraser, G.R.5
  • 27
    • 0030927756 scopus 로고    scopus 로고
    • Relationship estimation in affected sib pair analysis of late-onset diseases
    • Goring, H.H. and Ott, J. (1997) Relationship estimation in affected sib pair analysis of late-onset diseases. Eur. J. Hum. Genet., 5, 69-77.
    • (1997) Eur. J. Hum. Genet. , vol.5 , pp. 69-77
    • Goring, H.H.1    Ott, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.