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Volumn 53, Issue 7, 1999, Pages 1602-1604

Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: Mutation of Parkin gene

Author keywords

AR JP; Autosomal recessive juvenile parkinsonism; Exon; Familial; Linkage; Mutation; Parkin; Parkinson

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; GENETIC LINKAGE; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; JEW; MALE; PARKINSONISM; PRIORITY JOURNAL; SCORING SYSTEM;

EID: 0032716207     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.7.1602     Document Type: Article
Times cited : (44)

References (10)
  • 1
    • 16944362288 scopus 로고    scopus 로고
    • Localization of a gene for an autosomal recessive form of juvenile parkinsonism to chromosome 6q25:2-27
    • Matsumine H, Saito M, Shimoda-Matsubayashi S, et al. Localization of a gene for an autosomal recessive form of juvenile parkinsonism to chromosome 6q25:2-27. Am J Hum Genet 1997;60:588-596.
    • (1997) Am J Hum Genet , vol.60 , pp. 588-596
    • Matsumine, H.1    Saito, M.2    Shimoda-Matsubayashi, S.3
  • 2
    • 0032499264 scopus 로고    scopus 로고
    • Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    • Kitada T, Asawaka S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608.
    • (1998) Nature , vol.392 , pp. 605-608
    • Kitada, T.1    Asawaka, S.2    Hattori, N.3
  • 3
    • 0030015934 scopus 로고    scopus 로고
    • Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism
    • Ishikawa A, Tsuji S. Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism. Neurology 1996;47:160-166.
    • (1996) Neurology , vol.47 , pp. 160-166
    • Ishikawa, A.1    Tsuji, S.2
  • 4
    • 0032231463 scopus 로고    scopus 로고
    • Autosomal recessive juvenile parkinsonism maps to 6q25.2-27. in four ethnic groups: Detailed genetic mapping of the linked region
    • Jones AC, Yamamura Y, Almasy L, et al. Autosomal recessive juvenile parkinsonism maps to 6q25.2-27. in four ethnic groups: detailed genetic mapping of the linked region. Am J Hum Genet 1998;63:80-87.
    • (1998) Am J Hum Genet , vol.63 , pp. 80-87
    • Jones, A.C.1    Yamamura, Y.2    Almasy, L.3
  • 5
    • 1642618076 scopus 로고    scopus 로고
    • Chromosome 6-linked autosomal recessive early-onset parkinsonism: Linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family
    • Tassin J, Durr A, de Broucker T, et al. Chromosome 6-linked autosomal recessive early-onset parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. Am J Hum Genet 1998;63:88-94.
    • (1998) Am J Hum Genet , vol.63 , pp. 88-94
    • Tassin, J.1    Durr, A.2    De Broucker, T.3
  • 6
    • 0031844291 scopus 로고    scopus 로고
    • Early-onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism
    • Matsumine H, Yamamura Y, Kobayashi T, Nakamura S, Kuzuhara S, Mizuno Y. Early-onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism. Neurology 1998;50:1340-1345.
    • (1998) Neurology , vol.50 , pp. 1340-1345
    • Matsumine, H.1    Yamamura, Y.2    Kobayashi, T.3    Nakamura, S.4    Kuzuhara, S.5    Mizuno, Y.6
  • 7
    • 18244412384 scopus 로고    scopus 로고
    • Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in the Parkin gene in affected individuals
    • Hattori H, Kitada T, Matsumine H, et al. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann Neurol 1998;44:935-941.
    • (1998) Ann Neurol , vol.44 , pp. 935-941
    • Hattori, H.1    Kitada, T.2    Matsumine, H.3
  • 8
    • 0028198309 scopus 로고
    • Familial juvenile parkinsonism: Clinical and pathologic study in a family
    • Takahashi H, Ohama E, Suzuki S, et al. Familial juvenile parkinsonism: clinical and pathologic study in a family. Neurology 1994;44:437-441.
    • (1994) Neurology , vol.44 , pp. 437-441
    • Takahashi, H.1    Ohama, E.2    Suzuki, S.3
  • 9
    • 0031657106 scopus 로고    scopus 로고
    • A loss-of-function mechanism of nigral neuron death without Lewy body formation: Autosomal recessive juvenile parkinsonism (AR-JP)
    • Matsumine H. A loss-of-function mechanism of nigral neuron death without Lewy body formation: autosomal recessive juvenile parkinsonism (AR-JP). J Neurol 1998;245(suppl 3):10-14.
    • (1998) J Neurol , vol.245 , Issue.3 SUPPL. , pp. 10-14
    • Matsumine, H.1
  • 10
    • 0345490853 scopus 로고    scopus 로고
    • A wide variety of mutations in the parkin gene are responsible for autosomal recessive juvenile parkinsonism in Europe
    • Abbas N, Lucking CB, Ricard S, et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive juvenile parkinsonism in Europe. Hum Mol Genet 1999;8: 567-574.
    • (1999) Hum Mol Genet , vol.8 , pp. 567-574
    • Abbas, N.1    Lucking, C.B.2    Ricard, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.