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Volumn 258, Issue 7, 2011, Pages 1361-1363

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ATLASTIN; GENOMIC DNA; SPASTIN; UNCLASSIFIED DRUG;

EID: 79961023393     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-5934-z     Document Type: Letter
Times cited : (31)

References (12)
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    • (2006) Neurology , vol.67 , Issue.3 , pp. 430-434
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  • 5
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    • Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4
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    • 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 18401025 10.1212/01.wnl.0000294330.27058.61 1:STN:280: DC%2BD1czisFeksQ%3D%3D
    • (2008) Neurology , vol.70 , pp. 1959-1966
    • Orlacchio, A.1    Patrono, C.2    Gaudiello, F.3
  • 6
    • 31144453436 scopus 로고    scopus 로고
    • Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners
    • DOI 10.1093/hmg/ddi447
    • CM Sanderson JW Connell TL Edwards, et al. 2006 Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners Hum Mol Genet 15 307 318 16339213 10.1093/hmg/ddi447 1:CAS:528:DC%2BD28XktF2mtQ%3D%3D (Pubitemid 43125984)
    • (2006) Human Molecular Genetics , vol.15 , Issue.2 , pp. 307-318
    • Sanderson, C.M.1    Connel, J.W.2    Edwards, T.L.3    Bright, N.A.4    Duley, S.5    Thompson, A.6    Luzio, J.P.7    Reid, E.8
  • 7
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    • Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
    • 14695538 10.1002/humu.9205 1:STN:280:DC%2BD3snht1CqsQ%3D%3D
    • SM Sauter W Engel LM Neumann, et al. 2004 Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus Hum Mutat 23 98 14695538 10.1002/humu.9205 1:STN:280:DC%2BD3snht1CqsQ%3D%3D
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    • 55549094109 scopus 로고    scopus 로고
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    • S Salinas C Proukakis A Crosby TT Warner 2008 Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms Lancet Neurol 7 1127 1138 19007737 10.1016/S1474-4422(08)70258-8 1:CAS:528:DC%2BD1cXhsFCrsLvN
    • (2008) Lancet Neurol , vol.7 , pp. 1127-1138
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  • 10
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    • A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum
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    • A Boukhris I Feki N Elleuch, et al. 2010 A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum Neurogenetics 11 441 448 20593214 10.1007/s10048-010-0249-2
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.