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Volumn 73, Issue 24, 2009, Pages 2124-2126

Novel compound heterozygous als2 mutations cause juvenile amyotrophic lateral sclerosis in Japan

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALS2 GENE; AMYOTROPHIC LATERAL SCLEROSIS; ANAMNESIS; ARTICLE; CASE REPORT; GENE; GENE MUTATION; HUMAN; JAPAN; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

EID: 73349122300     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181c67be0     Document Type: Article
Times cited : (18)

References (7)
  • 1
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    • Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
    • Eymard-Pierre E, Lesca G, Dollet S, et al. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 2002;71: 518-527.
    • (2002) Am J Hum Genet , vol.71 , pp. 518-527
    • Eymard-Pierre, E.1    Lesca, G.2    Dollet, S.3
  • 2
    • 0034785509 scopus 로고    scopus 로고
    • The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotro-phic lateral sclerosis
    • Yang Y, Hentati A, Deng HX, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotro-phic lateral sclerosis. Nat Genet 2001;29:160-165.
    • (2001) Nat Genet , vol.29 , pp. 160-165
    • Yang, Y.1    Hentati, A.2    Deng, H.X.3
  • 3
    • 43449124426 scopus 로고    scopus 로고
    • First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement
    • Sztriha L, Panzeri C, Kalmanchey R, et al. First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement. Clin Genet 2008;73:591-593.
    • (2008) Clin Genet , vol.73 , pp. 591-593
    • Sztriha, L.1    Panzeri, C.2    Kalmanchey, R.3
  • 4
    • 58649114971 scopus 로고    scopus 로고
    • Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
    • Herzfeld T, Wolf N, Winter P, et al. Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP). Neurogenetics 2009;10:59-64.
    • (2009) Neurogenetics , vol.10 , pp. 59-64
    • Herzfeld, T.1    Wolf, N.2    Winter, P.3    Al, E.4
  • 5
    • 63849183994 scopus 로고    scopus 로고
    • A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family
    • Mintchev N, Zamba-Papanicolaou E, Kleopa KA, et al. A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family. Neurology 2009;72: 28-32.
    • (2009) Neurology , vol.72 , pp. 28-32
    • Mintchev, N.1    Zamba-Papanicolaou, E.2    Kleopa, K.A.3
  • 6
    • 27644488582 scopus 로고    scopus 로고
    • Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis
    • Kress JA, Kuhnlein P, Winter P, et al. Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. Ann Neurol 2005;58:800-803.
    • (2005) Ann Neurol , vol.58 , pp. 800-803
    • Kress, J.A.1    Kuhnlein, P.2    Winter, P.3
  • 7
    • 33744816471 scopus 로고    scopus 로고
    • Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis
    • Eymard-Pierre E, Yamanaka K, Haeussler M, et al. Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis. Ann Neurol 2006;59: 976-980.
    • (2006) Ann Neurol , vol.59 , pp. 976-980
    • Eymard-Pierre, E.1    Yamanaka, K.2    Haeussler, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.