-
1
-
-
0033358671
-
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
-
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
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
-
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
|