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Neurology
Volumn 82, Issue 12, 2014, Pages 1065-1067
ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia
Author keywords

[No Author keywords available]
Indexed keywords

BACLOFEN; BOTULINUM TOXIN; TETRAZEPAM; TIZANIDINE;
EID: 84898742036     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000254     Document Type: Article
Times cited : (27)
References (7)
  • 1
    • 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 amyotrophic 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 amyotrophic 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
  • 2
    • 0036724052 scopus 로고    scopus 로고
    • 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
  • 3
    • 0037234133 scopus 로고    scopus 로고
    • An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred
    • Gros-Louis F, Meijer IA, Hand CK, et al. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann Neurol 2003;53:144-145.
    • (2003) Ann Neurol , vol.53 , pp. 144-145
    • Gros-Louis, F.1    Meijer, I.A.2    Hand, C.K.3
  • 4
    • 73349122300 scopus 로고    scopus 로고
    • Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan
    • Shirakawa K, Suzuki H, Ito M, et al. Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan. Neurology 2009;73:2124-2126.
    • (2009) Neurology , vol.73 , pp. 2124-2126
    • Shirakawa, K.1    Suzuki, H.2    Ito, M.3
  • 5
    • 0037465372 scopus 로고    scopus 로고
    • Infantile ascending hereditary spastic paralysis (IAHSP): Clinical features in 11 families
    • Lesca G, Eymard-Pierre E, Santorelli FM, et al. Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 2003;60:674-682.
    • (2003) Neurology , vol.60 , pp. 674-682
    • Lesca, G.1    Eymard-Pierre, E.2    Santorelli, F.M.3
  • 6
    • 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, Christodoulou K. 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    Christodoulou, K.4
  • 7
    • 31144448704 scopus 로고    scopus 로고
    • Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking
    • Hadano S, Benn SC, Kakuta S, et al. Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking. Hum Mol Genet 2006;15:233-250.
    • (2006) Hum Mol Genet , vol.15 , pp. 233-250
    • Hadano, S.1    Benn, S.C.2    Kakuta, S.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.