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Volumn 71, Issue 19, 2008, Pages 1468-1469

Sporadically occurring neurologic disease: HSP genes and apparently sporadic spastic paraplegia

Author keywords

[No Author keywords available]

Indexed keywords

PARAPLEGIN; PROTEIN; SPASTIN; UNCLASSIFIED DRUG; ADENOSINE TRIPHOSPHATASE; METALLOPROTEINASE; SPAST PROTEIN, HUMAN; SPG7 PROTEIN, HUMAN;

EID: 56149085040     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000334294.99658.2d     Document Type: Editorial
Times cited : (7)

References (8)
  • 1
    • 84888516320 scopus 로고    scopus 로고
    • Fink JK. Hereditary spastic paraplegia. In: Rimoin D, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin's Principles and Practice of Medical Genetics, 5 ed. Philadelphia: Churchill Livingstone Elsevier; 2007: 2771-2801.
    • Fink JK. Hereditary spastic paraplegia. In: Rimoin D, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin's Principles and Practice of Medical Genetics, 5 ed. Philadelphia: Churchill Livingstone Elsevier; 2007: 2771-2801.
  • 2
    • 56149126723 scopus 로고    scopus 로고
    • Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes
    • Brugman F, Scheffer H, Wokke JHJ, et al. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology 2008;71:1500-1505.
    • (2008) Neurology , vol.71 , pp. 1500-1505
    • Brugman, F.1    Scheffer, H.2    Wokke, J.H.J.3
  • 3
    • 0032231934 scopus 로고    scopus 로고
    • A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
    • DeMichele G, DeFusco M, Cavalcanti F, et al. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 1998; 63:135-139.
    • (1998) Am J Hum Genet , vol.63 , pp. 135-139
    • DeMichele, G.1    DeFusco, M.2    Cavalcanti, F.3
  • 4
    • 0032511186 scopus 로고    scopus 로고
    • Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    • Casari G, Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998;93:973-983.
    • (1998) Cell , vol.93 , pp. 973-983
    • Casari, G.1    Fusco, M.2    Ciarmatori, S.3
  • 5
    • 42049097275 scopus 로고    scopus 로고
    • A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia
    • Arnoldi A, Tonelli A, Crippa F, et al. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat 2008;29:522-531.
    • (2008) Hum Mutat , vol.29 , pp. 522-531
    • Arnoldi, A.1    Tonelli, A.2    Crippa, F.3
  • 6
    • 2442542546 scopus 로고    scopus 로고
    • A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia
    • Wilkinson PA, Crosby AH, Turner C, et al. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain 2004;127:973-980.
    • (2004) Brain , vol.127 , pp. 973-980
    • Wilkinson, P.A.1    Crosby, A.H.2    Turner, C.3
  • 7
    • 4344679278 scopus 로고    scopus 로고
    • A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia (errata)
    • Wilkinson PA, Crosby AH, Turner C, et al. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia (errata). Brain 2004;127:2148.
    • (2004) Brain , vol.127 , pp. 2148
    • Wilkinson, P.A.1    Crosby, A.H.2    Turner, C.3
  • 8
    • 0035957066 scopus 로고    scopus 로고
    • Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England
    • McDermott CJ, Dayaratne RK, Tomkins J, et al. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. Neurology 2001;56: 476-471.
    • (2001) Neurology , vol.56 , pp. 476-471
    • McDermott, C.J.1    Dayaratne, R.K.2    Tomkins, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.