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Volumn 44, Issue 4, 2007, Pages 281-284

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; EXON; GENE AMPLIFICATION; GENE DELETION; GENE PROBE; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 34247099726     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.046425     Document Type: Article
Times cited : (103)

References (13)
  • 1
    • 0032721512 scopus 로고    scopus 로고
    • Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999;23:296- 303.
    • Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999;23:296- 303.
  • 4
    • 0036483811 scopus 로고    scopus 로고
    • Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia
    • Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch Neurol 2002;59:281-6.
    • (2002) Arch Neurol , vol.59 , pp. 281-286
    • Meijer, I.A.1    Hand, C.K.2    Cossette, P.3    Figlewicz, D.A.4    Rouleau, G.A.5
  • 7
    • 9144223076 scopus 로고    scopus 로고
    • Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia
    • Tang B, Zhao G, Xia K, Pan Q, Luo W, Shen L, Long Z, Dai H, Zi X, Jiang H. Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. Arch Neurol 2004;61:49-55.
    • (2004) Arch Neurol , vol.61 , pp. 49-55
    • Tang, B.1    Zhao, G.2    Xia, K.3    Pan, Q.4    Luo, W.5    Shen, L.6    Long, Z.7    Dai, H.8    Zi, X.9    Jiang, H.10
  • 8
    • 0035208727 scopus 로고    scopus 로고
    • A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: Association with multiple sclerosis in two affected siblings and epilepsy in other affected family members
    • Mead SH, Proukakis C, Wood N, Crosby AH, Plant GT, Warner TT. A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members. J Neurol Neurosurg Psychiatry 2001;71:788-91.
    • (2001) J Neurol Neurosurg Psychiatry , vol.71 , pp. 788-791
    • Mead, S.H.1    Proukakis, C.2    Wood, N.3    Crosby, A.H.4    Plant, G.T.5    Warner, T.T.6
  • 12
    • 12944283141 scopus 로고    scopus 로고
    • Large deletion involving the 5′-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia
    • Iwanaga H, Tsujino A, Shirabe S, Eguchi H, Fukushima N, Niikawa N, Yoshiura K, Eguchi K. Large deletion involving the 5′-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia. Am J Med Genet A 2005;133:13-17.
    • (2005) Am J Med Genet A , vol.133 , pp. 13-17
    • Iwanaga, H.1    Tsujino, A.2    Shirabe, S.3    Eguchi, H.4    Fukushima, N.5    Niikawa, N.6    Yoshiura, K.7    Eguchi, K.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.