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Volumn 257, Issue 3, 2010, Pages 328-331

Complex phenotype in an Italian family with a novel mutation in SPG3A

Author keywords

Amyotrophic lateral sclerosis; Hereditary spastic paraplegias; SPG3A

Indexed keywords

GENE PRODUCT; PROTEIN SPG3A; UNCLASSIFIED DRUG;

EID: 77951204811     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-5311-3     Document Type: Article
Times cited : (6)

References (15)
  • 3
    • 28544451984 scopus 로고    scopus 로고
    • Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations
    • 10.1002/humu.9340 15841487
    • C Patrono V Scarano F Cricchi, et al. 2005 Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations Hum Mutat 25 506 10.1002/humu.9340 15841487
    • (2005) Hum Mutat , vol.25 , pp. 506
    • Patrono, C.1    Scarano, V.2    Cricchi, F.3
  • 5
    • 49649102608 scopus 로고    scopus 로고
    • Recent advances in the genetics of spastic paraplegias
    • 10.1007/s11910-008-0032-z 18541115
    • G Stevanin M Ruberg A Brice 2008 Recent advances in the genetics of spastic paraplegias Curr Neurol Neurosci Rep 8 198 210 10.1007/s11910-008-0032-z 18541115
    • (2008) Curr Neurol Neurosci Rep , vol.8 , pp. 198-210
    • Stevanin, G.1    Ruberg, M.2    Brice, A.3
  • 12
    • 44949220168 scopus 로고    scopus 로고
    • Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4
    • 10.1212/01.wnl.0000294330.27058.61 1:STN:280:DC%2BD1czisFeksQ%3D%3D 18401025
    • A Orlacchio C Patrono F Gaudiello, et al. 2008 Silver syndrome variant of hereditary spastic paraplegia: a locus to 4p and allelism with SPG4 Neurology 70 1959 1966 10.1212/01.wnl.0000294330.27058.61 1:STN:280:DC%2BD1czisFeksQ%3D%3D 18401025
    • (2008) Neurology , vol.70 , pp. 1959-1966
    • Orlacchio, A.1    Patrono, C.2    Gaudiello, F.3
  • 15
    • 0034598734 scopus 로고    scopus 로고
    • Structure of human guanylate-binding protein 1 representing a unique class of GTP-binding proteins
    • DOI 10.1038/35000617
    • B Prakash GJ Praefcke L Renault A Wittinghofer C Herrmann 2000 Structure of human guanylate-binding protein 1 representing a unique class of GTP-binding proteins Nature 403 567 571 10.1038/35000617 1:CAS:528:DC%2BD3cXht1Wgt7Y%3D 10676968 (Pubitemid 30082205)
    • (2000) Nature , vol.403 , Issue.6769 , pp. 567-571
    • Prakash, B.1    Praefcke, G.J.K.2    Renault, L.3    Wittinghofer, A.4    Herrmann, C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.