메뉴 건너뛰기




Volumn 15, Issue 5, 2008, Pages 520-524

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

Author keywords

Positional candidate gene approach; Refinement of candidate chromosomal region; SPG27; SPG33; SPG9

Indexed keywords

ARTICLE; CATARACT; CHROMOSOME 10Q; GASTROESOPHAGEAL REFLUX; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; MARKER GENE; MOLECULAR CLONING; MUSCLE ATROPHY; PRIORITY JOURNAL; PROMOTER REGION; SPASTIC PARAPLEGIA; VOMITING;

EID: 41849147505     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2008.02117.x     Document Type: Article
Times cited : (5)

References (18)
  • 1
    • 0030977483 scopus 로고    scopus 로고
    • Pure hereditary spastic paraplegia
    • Reid E. Pure hereditary spastic paraplegia. Journal of Medical Genetics 1997 34 : 499 503.
    • (1997) Journal of Medical Genetics , vol.34 , pp. 499-503
    • Reid, E.1
  • 2
    • 0037328987 scopus 로고    scopus 로고
    • Science in motion: Common molecular pathological themes emerge in the hereditary spastic paraplegias
    • Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. Journal of Medical Genetics 2003 40 : 81 86.
    • (2003) Journal of Medical Genetics , vol.40 , pp. 81-86
    • Reid, E.1
  • 3
    • 0027759812 scopus 로고
    • Hereditary spastic paraplegias
    • Harding A. E. Hereditary spastic paraplegias. Seminars in Neurology 1993 13 : 333 336.
    • (1993) Seminars in Neurology , vol.13 , pp. 333-336
    • Harding, A.E.1
  • 6
    • 34249008076 scopus 로고    scopus 로고
    • A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21
    • Stevanin G., Paternotte C., Coutinho P., et al. A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology 2007 68 : 1837 1840.
    • (2007) Neurology , vol.68 , pp. 1837-1840
    • Stevanin, G.1    Paternotte, C.2    Coutinho, P.3
  • 7
    • 33845991876 scopus 로고    scopus 로고
    • Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
    • Valdmanis P. N., Meijer I. A., Reynolds A., et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American Journal of Human Genetics 2007 80 : 152 161.
    • (2007) American Journal of Human Genetics , vol.80 , pp. 152-161
    • Valdmanis, P.N.1    Meijer, I.A.2    Reynolds, A.3
  • 8
    • 0033069503 scopus 로고    scopus 로고
    • Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
    • Seri M., Cusano R., Forabosco P., et al. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. American Journal of Human Genetics 1999 6 : 586 593.
    • (1999) American Journal of Human Genetics , vol.6 , pp. 586-593
    • Seri, M.1    Cusano, R.2    Forabosco, P.3
  • 9
    • 0033776571 scopus 로고    scopus 로고
    • A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2
    • Lo Nigro C., Cusano R., Scaranari M., et al. A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2. European Journal of Human Genetics 2000 8 : 777 782.
    • (2000) European Journal of Human Genetics , vol.8 , pp. 777-782
    • Lo Nigro, C.1    Cusano, R.2    Scaranari, M.3
  • 10
    • 0029966693 scopus 로고    scopus 로고
    • Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnomalities: A new syndrome?
    • Slavotinek A., Pike M., Mills K., Hurst J. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnomalities: a new syndrome? American Journal of Medical Genetics 1996 1 : 42 47.
    • (1996) American Journal of Medical Genetics , vol.1 , pp. 42-47
    • Slavotinek, A.1    Pike, M.2    Mills, K.3    Hurst, J.4
  • 12
    • 33745521432 scopus 로고    scopus 로고
    • A new phenotype linked to SPG27 and refinement of the critical region on chromosome
    • Ribai P., Stevanin G., Bouslam N., et al. A new phenotype linked to SPG27 and refinement of the critical region on chromosome. Journal of Neurology 2006 253 : 714 719.
    • (2006) Journal of Neurology , vol.253 , pp. 714-719
    • Ribai, P.1    Stevanin, G.2    Bouslam, N.3
  • 13
    • 33746536549 scopus 로고    scopus 로고
    • ZFYVE27 (SPG33), a novel spastin-binding protein is mutated in hereditary spastic paraplegia
    • Mannan A. U., Krawen P., Sauter S. M., et al. ZFYVE27 (SPG33), a novel spastin-binding protein is mutated in hereditary spastic paraplegia. American Journal of Human Genetics 2006 79 : 351 357.
    • (2006) American Journal of Human Genetics , vol.79 , pp. 351-357
    • Mannan, A.U.1    Krawen, P.2    Sauter, S.M.3
  • 14
    • 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., et al. Spastin, a new AAA protein is altered in the most frequent form of autosomal dominant spastic paraplegia. Nature Genetics 1999 23 : 296 303.
    • (1999) Nature Genetics , vol.23 , pp. 296-303
    • Hazan, J.1    Fonknechten, N.2    Mavel, D.3
  • 15
    • 18444378149 scopus 로고    scopus 로고
    • Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
    • Sauter S., Miterski B., Klimpe S., et al. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Human Mutation 2002 20 : 127 132.
    • (2002) Human Mutation , vol.20 , pp. 127-132
    • Sauter, S.1    Miterski, B.2    Klimpe, S.3
  • 16
    • 0037045428 scopus 로고    scopus 로고
    • Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia
    • Nobile C., Hinzmann B., Scannapieco P., et al. Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia. Gene. 2002 9 : 87 94.
    • (2002) Gene. , vol.9 , pp. 87-94
    • Nobile, C.1    Hinzmann, B.2    Scannapieco, P.3
  • 17
    • 0036844683 scopus 로고    scopus 로고
    • Is the transportation highway the right road for hereditary spastic paraplegia?
    • Crosby A. H., Proukakis C. Is the transportation highway the right road for hereditary spastic paraplegia? American Journal of Human Genetics 2002 71 : 1009 1016.
    • (2002) American Journal of Human Genetics , vol.71 , pp. 1009-1016
    • Crosby, A.H.1    Proukakis, C.2
  • 18
    • 18644365196 scopus 로고    scopus 로고
    • A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
    • Reid E., Kloos M., Ashley-Koch A., et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). American Journal of Human Genetics 2002 71 : 1189 1194.
    • (2002) American Journal of Human Genetics , vol.71 , pp. 1189-1194
    • Reid, E.1    Kloos, M.2    Ashley-Koch, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.