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Volumn 35, Issue 9, 2014, Pages 1453-1455

Novel splice site mutation of SPG4 in a Chinese family with hereditary spastic paraplegia

Author keywords

Hereditary spastic paraplegia; Mutation; Spastin gene

Indexed keywords

GENOMIC DNA; SPASTIN; ADENOSINE TRIPHOSPHATASE; SPAST PROTEIN, HUMAN;

EID: 84908356733     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-014-1727-3     Document Type: Letter
Times cited : (1)

References (4)
  • 1
    • 84893041011 scopus 로고    scopus 로고
    • Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
    • Novarino G, Fenstermaker AG, Zaki MS et al (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343:506-511
    • (2014) Science , vol.343 , pp. 506-511
    • Novarino, G.1    Fenstermaker, A.G.2    Zaki, M.S.3
  • 4
    • 67449132352 scopus 로고    scopus 로고
    • Direct evidence for axonal transport defects in a novel mouse of mutant spastininduced hereditary spastic paraplegia (HSP) and human HSP patients
    • Kasher PR, De Vos KJ, Wharton SB et al (2009) Direct evidence for axonal transport defects in a novel mouse of mutant spastininduced hereditary spastic paraplegia (HSP) and human HSP patients. J Neurochem 110:34-44
    • (2009) J Neurochem , vol.110 , pp. 34-44
    • Kasher, P.R.1    De Vos, K.J.2    Wharton, S.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.