메뉴 건너뛰기




Volumn 119, Issue 5, 1996, Pages 1487-1496

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2

Author keywords

Anticipation; Genetic heterogeneity; Linkage analysis; Spastic paraplegia; SPG4

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BABINSKI REFLEX; CHILD; CHROMOSOME 2P; CLINICAL FEATURE; CONTROLLED STUDY; GENETIC LINKAGE; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REFLEX; SPASTIC PARAPLEGIA;

EID: 10344241450     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/119.5.1487     Document Type: Article
Times cited : (77)

References (21)
  • 1
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5264 microsatellites
    • Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, et al. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 1996; 380: 152-4.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Fauré, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6
  • 3
    • 9244225693 scopus 로고    scopus 로고
    • Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular and neuropathological features
    • Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features. Ann Neurol 1996; 39: 490-9.
    • (1996) Ann Neurol , vol.39 , pp. 490-499
    • Dürr, A.1    Stevanin, G.2    Cancel, G.3    Duyckaerts, C.4    Abbas, N.5    Didierjean, O.6
  • 4
    • 0028817191 scopus 로고
    • Autosomal dominant, familial spastic paraplegia, type I: Clinical and genetic analysis of a large North American family
    • Fink JK, Sharp GB, Lange BM, Wu C-B, Haley T, Otterud B, et al. Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family. Neurology 1995a; 45: 325-31.
    • (1995) Neurology , vol.45 , pp. 325-331
    • Fink, J.K.1    Sharp, G.B.2    Lange, B.M.3    Wu, C.-B.4    Haley, T.5    Otterud, B.6
  • 6
    • 0028888630 scopus 로고
    • Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia
    • Fontaine B, Rime C-S, Kazan J, Dürr A, Stevanin G, Penet C, et al. Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia. Neuromuscul Disord 1995; 5: 11-17
    • (1995) Neuromuscul Disord , vol.5 , pp. 11-17
    • Fontaine, B.1    Rime, C.-S.2    Kazan, J.3    Dürr, A.4    Stevanin, G.5    Penet, C.6
  • 7
    • 0028872909 scopus 로고
    • Autosomal dominant familial spastic paraplegia: Reduction of the FSPI candidate region on chromosome 14q to 7cM and locus heterogeneity
    • Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, et al. Autosomal dominant familial spastic paraplegia: reduction of the FSPI candidate region on chromosome 14q to 7cM and locus heterogeneity. Am J Hum Genet 1995; 56: 183-7.
    • (1995) Am J Hum Genet , vol.56 , pp. 183-187
    • Gispert, S.1    Santos, N.2    Damen, R.3    Voit, T.4    Schulz, J.5    Klockgether, T.6
  • 8
    • 0022555874 scopus 로고
    • DNA polymorphism and human disease
    • Gusella JF. DNA polymorphism and human disease. [Review]. Annu Rev Biochem 1986; 55: 831-54.
    • (1986) Annu Rev Biochem , vol.55 , pp. 831-854
    • Gusella, J.F.1
  • 9
    • 0028231090 scopus 로고
    • The 1993-94 Généthon human genetic linkage map
    • see comments
    • Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, et al. The 1993-94 Généthon human genetic linkage map [see comments]. Nat Genet 1994; 7 (2 Spec No): 246-339. Comment in: Nat Genet 1994; 7 (2 Spec No): 219.
    • (1994) Nat Genet , vol.7 , Issue.2 SPEC NO , pp. 246-339
    • Gyapay, G.1    Morissette, J.2    Vignal, A.3    Dib, C.4    Fizames, C.5    Millasseau, P.6
  • 10
    • 0028298324 scopus 로고
    • Comment in
    • Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, et al. The 1993-94 Généthon human genetic linkage map [see comments]. Nat Genet 1994; 7 (2 Spec No): 246-339. Comment in: Nat Genet 1994; 7 (2 Spec No): 219.
    • (1994) Nat Genet , vol.7 , Issue.2 SPEC NO , pp. 219
  • 11
    • 0019777963 scopus 로고
    • Hereditary 'pure' spastic paraplegia: A clinical and genetic study of 22 families
    • Harding AE. Hereditary 'pure' spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 1981; 44: 871-83.
    • (1981) J Neurol Neurosurg Psychiatry , vol.44 , pp. 871-883
    • Harding, A.E.1
  • 12
    • 0026521157 scopus 로고
    • A genetic linkage map of the human chromosome 20 composed entirely of microsatellite markers
    • Hazan J, Dubay C, Pankowiak M-P, Becuwe N, Weissenbach J. A genetic linkage map of the human chromosome 20 composed entirely of microsatellite markers. Genomics 1992; 12: 183-9.
    • (1992) Genomics , vol.12 , pp. 183-189
    • Hazan, J.1    Dubay, C.2    Pankowiak, M.-P.3    Becuwe, N.4    Weissenbach, J.5
  • 13
    • 0027363223 scopus 로고
    • Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
    • Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 1993; 5: 163-7.
    • (1993) Nat Genet , vol.5 , pp. 163-167
    • Hazan, J.1    Lamy, C.2    Melki, J.3    Munnich, A.4    De Recondo, J.5    Weissenbach, J.6
  • 14
    • 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 C-S, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 1994; 3: 1569-73.
    • (1994) Hum Mol Genet , vol.3 , 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
  • 15
    • 0028067709 scopus 로고
    • Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers
    • Hentati A, Pericak-Vance MA, Lennon F, Wasserman B, Hentati F, Juneja T, et al. Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. Hum Mol Genet 1994; 3: 1867-71.
    • (1994) Hum Mol Genet , vol.3 , pp. 1867-1871
    • Hentati, A.1    Pericak-Vance, M.A.2    Lennon, F.3    Wasserman, B.4    Hentati, F.5    Juneja, T.6
  • 16
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
    • Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985; 37: 482-98.
    • (1985) Am J Hum Genet , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 19
    • 0028997643 scopus 로고
    • Simple tandem DNA repeats and human genetic disease
    • Sutherland GR, Richards RI. Simple tandem DNA repeats and human genetic disease. [Review]. Proc Natl Acad Sci USA 1995; 92: 3636-41.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 3636-3641
    • Sutherland, G.R.1    Richards, R.I.2
  • 20
    • 0001432872 scopus 로고
    • Beiträge zur Pathologie des Rückenmarks
    • Strumpell A. Beiträge zur Pathologie des Rückenmarks. Arch Psychiat Nervenkrankh 1880; 10: 676-717.
    • (1880) Arch Psychiat Nervenkrankh , vol.10 , pp. 676-717
    • Strumpell, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.