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Neurology
Volumn 64, Issue 2, 2005, Pages 395-396
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale
Author keywords

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Indexed keywords

GENOMIC DNA;
EID: 12544257058     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000149755.85666.DB     Document Type: Article
Times cited : (21)
References (7)
  • 1
    • 17344366176 scopus 로고    scopus 로고
    • Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36
    • Moghadaszadeh B, Desguerre I, Topaloglu H, et al. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Am J Hum Genet 1998;62:1439-1445.
    • (1998) Am J Hum Genet , vol.62 , pp. 1439-1445
    • Moghadaszadeh, B.1    Desguerre, I.2    Topaloglu, H.3
  • 2
    • 17944367320 scopus 로고    scopus 로고
    • Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
    • Moghadaszadeh B, Petit N, Jaillard C, et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 2001;29:17-18.
    • (2001) Nat Genet , vol.29 , pp. 17-18
    • Moghadaszadeh, B.1    Petit, N.2    Jaillard, C.3
  • 3
    • 0033971244 scopus 로고    scopus 로고
    • Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological and genetic study
    • Flanigan KM, Kerr L, Bromberg MB, et al. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological and genetic study. Ann Neurol 2000;47:152-161.
    • (2000) Ann Neurol , vol.47 , pp. 152-161
    • Flanigan, K.M.1    Kerr, L.2    Bromberg, M.B.3
  • 4
    • 0036787899 scopus 로고    scopus 로고
    • Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
    • Mercuri E, Talim B, Moghadaszadeh B, et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromusc Dis 2002;12:631-638.
    • (2002) Neuromusc Dis , vol.12 , pp. 631-638
    • Mercuri, E.1    Talim, B.2    Moghadaszadeh, B.3
  • 5
    • 19044375929 scopus 로고    scopus 로고
    • Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: Reassessing the nosology of early-onset myopathies
    • Ferreiro A, Quijano-Roy S, Pichereau C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002;71:739-749.
    • (2002) Am J Hum Genet , vol.71 , pp. 739-749
    • Ferreiro, A.1    Quijano-Roy, S.2    Pichereau, C.3
  • 6
    • 0037687985 scopus 로고    scopus 로고
    • Selenoprotein N: An endoplasmic reticulum glycoprotein with an early developmental expression pattern
    • Petit N, Lescure A, Rederstorff M, et al. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. Hum Mol Genet 2003;12:1045-1053.
    • (2003) Hum Mol Genet , vol.12 , pp. 1045-1053
    • Petit, N.1    Lescure, A.2    Rederstorff, M.3
  • 7
    • 0033621335 scopus 로고    scopus 로고
    • Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif
    • Lescure A, Gautheret D, Carbon P, Krol A. Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif. J Biol Chem 1999;274:38147-38154.
    • (1999) J Biol Chem , vol.274 , pp. 38147-38154
    • Lescure, A.1    Gautheret, D.2    Carbon, P.3    Krol, A.4

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.