메뉴 건너뛰기




Volumn 25, Issue 1, 2010, Pages 13-16

New mutation in the PSEN1 (E120G) gene associated with early onset Alzheimer's disease;Nueva mutación en el gen PSEN1 (E120G) asociada a enfermedad de Alzheimer de inicio precoz

Author keywords

Alzheimer's disease; Early onset dementia; Familial dementia; Mutation; Presenilin 1

Indexed keywords

AMYLOID PROTEIN; DNA; DONEPEZIL; NEUROLEPTIC AGENT; PRESENILIN 1;

EID: 77954847899     PISSN: 02134853     EISSN: 15781968     Source Type: Journal    
DOI: 10.1016/S0213-4853(10)70017-7     Document Type: Article
Times cited : (6)

References (11)
  • 1
    • 0033358671 scopus 로고    scopus 로고
    • Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum
    • Campion D., Dumanchin C., Hannequin D., Dubois B., Belliard S., Puel M., et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999, 65:664-670.
    • (1999) Am J Hum Genet , vol.65 , pp. 664-670
    • Campion, D.1    Dumanchin, C.2    Hannequin, D.3    Dubois, B.4    Belliard, S.5    Puel, M.6
  • 2
    • 77954836819 scopus 로고    scopus 로고
    • Alzheimer Disease & Frontotemporal Dementia Mutation Database. Disponible en:
    • Alzheimer Disease & Frontotemporal Dementia Mutation Database. Disponible en: http://www.molgen.ua.ac.be/admutacions/.
  • 3
    • 7744233995 scopus 로고    scopus 로고
    • A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis
    • Ataka S., Tomiyama T., Takuma H., Yamashita T., Shimada H., Tsutada T., et al. A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. Arch Neurol 2004, 61:1773-1776.
    • (2004) Arch Neurol , vol.61 , pp. 1773-1776
    • Ataka, S.1    Tomiyama, T.2    Takuma, H.3    Yamashita, T.4    Shimada, H.5    Tsutada, T.6
  • 4
    • 0036155190 scopus 로고    scopus 로고
    • A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances
    • Queralt R., Ezquerra M., Lleo A., Castellvi M., Gelpi J., Ferrer I., et al. A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances. J Neurol Neurosurg Psychiatry 2002, 72:266-269.
    • (2002) J Neurol Neurosurg Psychiatry , vol.72 , pp. 266-269
    • Queralt, R.1    Ezquerra, M.2    Lleo, A.3    Castellvi, M.4    Gelpi, J.5    Ferrer, I.6
  • 5
    • 36248994580 scopus 로고    scopus 로고
    • A novel mutation in the PSEN1 gene (L286P) associated with familiar dementia of Alzheimer type and lobar haematomas
    • Sánchez-Valle R., Lladó A., Ezquerra M., Rey M.J., Rami L., Molinuevo J.L. A novel mutation in the PSEN1 gene (L286P) associated with familiar dementia of Alzheimer type and lobar haematomas. Eur J Neurol 2007, 14:1409-1412.
    • (2007) Eur J Neurol , vol.14 , pp. 1409-1412
    • Sánchez-Valle, R.1    Lladó, A.2    Ezquerra, M.3    Rey, M.J.4    Rami, L.5    Molinuevo, J.L.6
  • 6
    • 23944459041 scopus 로고    scopus 로고
    • Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias
    • Molinuevo J.L., Pintor L., Peri J.M., Lleó A., Oliva R., Marcos T., et al. Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias. Am J Alzheimer Dis 2005, 20:233-238.
    • (2005) Am J Alzheimer Dis , vol.20 , pp. 233-238
    • Molinuevo, J.L.1    Pintor, L.2    Peri, J.M.3    Lleó, A.4    Oliva, R.5    Marcos, T.6
  • 7
    • 6844255860 scopus 로고    scopus 로고
    • Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease
    • Cruts M., Van Duijn C.M., Backhovens H., Van den Broeck M., Wehnert A., Serneels S., et al. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet 1998, 7:43-45.
    • (1998) Hum Mol Genet , vol.7 , pp. 43-45
    • Cruts, M.1    Van Duijn, C.M.2    Backhovens, H.3    Van den Broeck, M.4    Wehnert, A.5    Serneels, S.6
  • 8
    • 6844258883 scopus 로고    scopus 로고
    • Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene
    • Poorkaj P., Sharma V., Anderson L., Nemens E., Alonso M.E., Orr H., et al. Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. Hum Mutat 1998, 11:216-221.
    • (1998) Hum Mutat , vol.11 , pp. 216-221
    • Poorkaj, P.1    Sharma, V.2    Anderson, L.3    Nemens, E.4    Alonso, M.E.5    Orr, H.6
  • 9
    • 9344237637 scopus 로고    scopus 로고
    • Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease
    • Hutton M., Busfield F., Wragg M., Crook R., Perez-Tur J., Clark R.F., et al. Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease. Neuroreport 1996, 7:801-805.
    • (1996) Neuroreport , vol.7 , pp. 801-805
    • Hutton, M.1    Busfield, F.2    Wragg, M.3    Crook, R.4    Perez-Tur, J.5    Clark, R.F.6
  • 10
    • 77954845617 scopus 로고    scopus 로고
    • Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2008 Jul 28 [Epub ahead of print].
    • Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, et al. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2008 Jul 28 [Epub ahead of print].
    • Guerreiro, RJ.1    Baquero, M.2    Blesa, R.3    Boada, M.4    Brás, JM.5    Bullido, MJ.6
  • 11
    • 0027434131 scopus 로고
    • How sensitive is PCR-SSCP?
    • Hayashi K., Yandell D.W. How sensitive is PCR-SSCP?. Hum Mutat 1993, 2:338-346.
    • (1993) Hum Mutat , vol.2 , pp. 338-346
    • Hayashi, K.1    Yandell, D.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.