메뉴 건너뛰기




Volumn 70, Issue 16 PART 2, 2008, Pages 1375-1376

Complicated autosomal recessive hereditary spastic paraplegia: A complex picture is emerging

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN DERIVATIVE; SPATASCIN; UNCLASSIFIED DRUG;

EID: 42049100753     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000310433.12618.e4     Document Type: Editorial
Times cited : (10)

References (10)
  • 1
    • 31544466788 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia
    • Fink JK. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 2006;6:65-76.
    • (2006) Curr Neurol Neurosci Rep , vol.6 , pp. 65-76
    • Fink, J.K.1
  • 2
    • 0034163576 scopus 로고    scopus 로고
    • Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
    • Fonknechten N, Mavel D, Byrne P, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 2000;1:637-644.
    • (2000) Hum Mol Genet , vol.1 , pp. 637-644
    • Fonknechten, N.1    Mavel, D.2    Byrne, P.3
  • 4
    • 33645114694 scopus 로고    scopus 로고
    • Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
    • Depienne C, Tallaksen C, Lephay JY, et al. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. J Med Genet 2006;43:259-265.
    • (2006) J Med Genet , vol.43 , pp. 259-265
    • Depienne, C.1    Tallaksen, C.2    Lephay, J.Y.3
  • 5
    • 0032708407 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: Heterogeneity and genotype/phenotype correlation
    • Fink JK, Hedera P. Hereditary spastic paraplegia: heterogeneity and genotype/phenotype correlation. Semin Neurol 1999;19:301-310.
    • (1999) Semin Neurol , vol.19 , pp. 301-310
    • Fink, J.K.1    Hedera, P.2
  • 6
    • 33847298447 scopus 로고    scopus 로고
    • Mutations in SPG11, encoding spatascin, are a major cause of spastic paraplegia with thin corpus callosum
    • Stevanin G, Santorelli FM, Azzedine H, et al. Mutations in SPG11, encoding spatascin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007;39:366-372.
    • (2007) Nat Genet , vol.39 , pp. 366-372
    • Stevanin, G.1    Santorelli, F.M.2    Azzedine, H.3
  • 7
    • 33746054137 scopus 로고    scopus 로고
    • Spastic paraplegia with thin corpus callosum: Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
    • Stevanin G, Montagna G, Azzedine H, et al. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics 2006;7:149-156.
    • (2006) Neurogenetics , vol.7 , pp. 149-156
    • Stevanin, G.1    Montagna, G.2    Azzedine, H.3
  • 8
    • 0345279856 scopus 로고    scopus 로고
    • Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15
    • Martinez Murillo F, Kobayashi H, Pegoraro E, et al. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology 1999;53: 50-56.
    • (1999) Neurology , vol.53 , pp. 50-56
    • Martinez Murillo, F.1    Kobayashi, H.2    Pegoraro, E.3
  • 9
    • 42049108597 scopus 로고    scopus 로고
    • SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia
    • Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology 2008;70:1384-1389.
    • (2008) Neurology , vol.70 , pp. 1384-1389
    • Paisan-Ruiz, C.1    Dogu, O.2    Yilmaz, A.3    Houlden, H.4    Singleton, A.5
  • 10
    • 34447543943 scopus 로고    scopus 로고
    • The genetics of hereditary spastic paraplegia and implications for drug therapy
    • Zuchner S. The genetics of hereditary spastic paraplegia and implications for drug therapy. Exp Opin Pharmacother 2007;8:1433-1439.
    • (2007) Exp Opin Pharmacother , vol.8 , pp. 1433-1439
    • Zuchner, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.