메뉴 건너뛰기




Volumn 34, Issue 2, 2007, Pages 208-210

Possible anticipation in hereditary spastic paraplegia type 4 (SPG4)

Author keywords

[No Author keywords available]

Indexed keywords

SPASTIN;

EID: 34347231894     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100006053     Document Type: Article
Times cited : (12)

References (18)
  • 1
    • 0031453761 scopus 로고    scopus 로고
    • Hereditary ataxias and spastic paraplegias: Methodological aspects of a prevalence study in Portugal
    • Silva MC, Coutinho P, Pinheiro CD, Neves JM, Serrano P. Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal. J Clin Epidemiol. 1997; 50(12):1377-84.
    • (1997) J Clin Epidemiol , vol.50 , Issue.12 , pp. 1377-1384
    • Silva, M.C.1    Coutinho, P.2    Pinheiro, C.D.3    Neves, J.M.4    Serrano, P.5
  • 2
    • 0025876335 scopus 로고
    • Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study
    • Polo JM, Calleja J, Combarros O, Berciano J. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain. 1991; 114(Pt 2):855-66.
    • (1991) Brain , vol.114 , Issue.PART 2 , pp. 855-866
    • Polo, J.M.1    Calleja, J.2    Combarros, O.3    Berciano, J.4
  • 3
    • 0027981739 scopus 로고
    • Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
    • Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet. 1994; 3(9):1569-73.
    • (1994) Hum Mol Genet , vol.3 , Issue.9 , pp. 1569-1573
    • Hazan, J.1    Fontaine, B.2    Bruyn, R.P.3    Lamy, C.4    van Deutekom, J.C.5    Rime, C.S.6
  • 4
    • 0032721512 scopus 로고    scopus 로고
    • Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
    • Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet. 1999; 23(3):296-303.
    • (1999) Nat Genet , vol.23 , Issue.3 , pp. 296-303
    • Hazan, J.1    Fonknechten, N.2    Mavel, D.3    Paternotte, C.4    Samson, D.5    Artiguenave, F.6
  • 6
    • 0028997643 scopus 로고
    • Simple tandem DNA repeats and human genetic disease
    • Sutherland GR, Richards RI. Simple tandem DNA repeats and human genetic disease. Proc Natl Acad Sci U.S.A. 1995; 92(9):3636-41.
    • (1995) Proc Natl Acad Sci U.S.A , vol.92 , Issue.9 , pp. 3636-3641
    • Sutherland, G.R.1    Richards, R.I.2
  • 7
    • 0027263205 scopus 로고
    • Hereditary spastic paraparesis. Clinical and genetic data from a large Dutch family
    • Bruyn RP, van Deutekom J, Frants RR, Padberg GW. Hereditary spastic paraparesis. Clinical and genetic data from a large Dutch family. Clin Neurol Neurosurg. 1993; 95(2):125-9.
    • (1993) Clin Neurol Neurosurg , vol.95 , Issue.2 , pp. 125-129
    • Bruyn, R.P.1    van Deutekom, J.2    Frants, R.R.3    Padberg, G.W.4
  • 9
    • 0030807772 scopus 로고    scopus 로고
    • CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24
    • Nielsen JE, Koefoed P, Abell K, Hasholt L, Eiberg H, Fenger K, et al. CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum Mol Genet. 1997; 6(11):1811-16.
    • (1997) Hum Mol Genet , vol.6 , Issue.11 , pp. 1811-1816
    • Nielsen, J.E.1    Koefoed, P.2    Abell, K.3    Hasholt, L.4    Eiberg, H.5    Fenger, K.6
  • 10
    • 0033597374 scopus 로고    scopus 로고
    • Genetic anticipation in a large family with pure autosomal dominant hereditary spastic paraplegia
    • Thurmon TF, He C, Haskell C, Thorpe P, Thurmon SG, Rosen DR. Genetic anticipation in a large family with pure autosomal dominant hereditary spastic paraplegia. Am J Med Genet. 1999; 83(5):392-6.
    • (1999) Am J Med Genet , vol.83 , Issue.5 , pp. 392-396
    • Thurmon, T.F.1    He, C.2    Haskell, C.3    Thorpe, P.4    Thurmon, S.G.5    Rosen, D.R.6
  • 12
    • 0031025555 scopus 로고    scopus 로고
    • Familial spastic paraparesis: Evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2
    • Raskind WH, Pericak-Vance MA, Lennon F, Wolff J, Lipe HP, Bird TD. Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. Am J Med Genet. 1997; 74(1):26-36.
    • (1997) Am J Med Genet , vol.74 , Issue.1 , pp. 26-36
    • Raskind, W.H.1    Pericak-Vance, M.A.2    Lennon, F.3    Wolff, J.4    Lipe, H.P.5    Bird, T.D.6
  • 13
    • 0031215402 scopus 로고    scopus 로고
    • Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia
    • Scott WK, Gaskell PC, Lennon F, Wolpert CM, Menold MM, Aylsworth AS, et al. Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia. Neurogenetics. 1997; 1(2):95-102.
    • (1997) Neurogenetics , vol.1 , Issue.2 , pp. 95-102
    • Scott, W.K.1    Gaskell, P.C.2    Lennon, F.3    Wolpert, C.M.4    Menold, M.M.5    Aylsworth, A.S.6
  • 14
    • 0030884650 scopus 로고    scopus 로고
    • Autosomal dominant spastic paraplegia linked to chromosome 2p: Clinical and genetic studies of a large Japanese pedigree
    • Matsuura T, Sasaki H, Wakisaka A, Hamada T, Moriwaka F, Tashiro K. Autosomal dominant spastic paraplegia linked to chromosome 2p: clinical and genetic studies of a large Japanese pedigree. J Neurol Sci. 1997; 151(1):65-70.
    • (1997) J Neurol Sci , vol.151 , Issue.1 , pp. 65-70
    • Matsuura, T.1    Sasaki, H.2    Wakisaka, A.3    Hamada, T.4    Moriwaka, F.5    Tashiro, K.6
  • 15
    • 0036913530 scopus 로고    scopus 로고
    • A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: Intrafamilial variability in age at onset and clinical severity
    • Namekawa M, Takiyama Y, Sakoe K, Nagaki H, Shimazaki H, Yoshimura M, et al. A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity. Acta Neurol Scand. 2002; 106(6):387-91.
    • (2002) Acta Neurol Scand , vol.106 , Issue.6 , pp. 387-391
    • Namekawa, M.1    Takiyama, Y.2    Sakoe, K.3    Nagaki, H.4    Shimazaki, H.5    Yoshimura, M.6
  • 16
    • 0037204875 scopus 로고    scopus 로고
    • A novel mutation in the spastin gene in a family with spastic paraplegia
    • Morita M, Ho M, Hosler BA, McKenna-Yasek D, Brown RH Jr. A novel mutation in the spastin gene in a family with spastic paraplegia. Neurosci Lett. 2002; 325(1):57-61.
    • (2002) Neurosci Lett , vol.325 , Issue.1 , pp. 57-61
    • Morita, M.1    Ho, M.2    Hosler, B.A.3    McKenna-Yasek, D.4    Brown Jr, R.H.5
  • 17
    • 2442687877 scopus 로고    scopus 로고
    • A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts
    • Orlacchio A, Gaudiello F, Totaro A, Floris R, St George-Hyslop PH, Bernardi G, et al. A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology. 2004; 62(10):1875-8.
    • (2004) Neurology , vol.62 , Issue.10 , pp. 1875-1878
    • Orlacchio, A.1    Gaudiello, F.2    Totaro, A.3    Floris, R.4    St George-Hyslop, P.H.5    Bernardi, G.6
  • 18
    • 0042205087 scopus 로고    scopus 로고
    • Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene
    • Aug;
    • Bonsch D, Schwindt A, Navratil P, Palm D, Neumann C, Klimpe S et al. Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene. J Neurol Neurosurg Psychiatry. 2003 Aug; 74(8):1109-12.
    • (2003) J Neurol Neurosurg Psychiatry , vol.74 , Issue.8 , pp. 1109-1112
    • Bonsch, D.1    Schwindt, A.2    Navratil, P.3    Palm, D.4    Neumann, C.5    Klimpe, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.