DOI: 10.1212/wnl.52.3.566. A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures

A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures

10.1212/wnl.52.3.566

Crossref journal-article

Ovid Technologies (Wolters Kluwer Health)

Neurology (276)

Bibliography

Ezquerra, M., Carnero, C., Blesa, R., GelpiÌ, J. L., Ballesta, F., & Oliva, R. (1999). A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. Neurology, 52(3), 566â566.

Authors 6

M. Ezquerra (first)
C. Carnero (additional)
R. Blesa (additional)
J.L. Gelpí (additional)
F. Ballesta (additional)
R. Oliva (additional)

References 39 Referenced 33

10.1038/375754a0
10.1093/hmg/5.Supplement_1.1449
Levy-Lahad E, Wasco W, Yu C, et al. Candidate gene for the chromosome 1 familial Alzheimer’s disease locus. Science 1995;269:678–680. / Science (1995)
10.1038/349704a0
10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J
10.1097/00001756-199602290-00029
10.1002/ana.410410618
10.1016/S0304-3940(97)00950-6
10.1038/377351a0
10.1016/S0140-6736(96)91140-X
10.1016/S0304-3940(97)00328-5
Montero J, Arbizu R, Ferrer I, Aguilar M, Peres-Serra J. Clinical and pathologic study of an early case of Alzheimer’s disease. Med Clin (Barc) 1977;69:515–518. / Med Clin (Barc) (1977)
10.1002/ana.410390419
10.1016/S0022-2836(77)80200-3
Murgolo NJ, Brown JE, Bayne ML, Strader CD. Presenilins mutations in Alzheimer’s disease : molecular models suggest a potential functional locus. Trends in Protein Science 1996;17:389–393. / Trends in Protein Science (1996)
10.1002/prot.340040106
10.1016/0022-2836(91)90695-3
Eisenberg D, Weiss R, Terwillinger TC. The helical hydrophobic moment : a measure of the amphiphilicity of a helix. Nature 1982;199:371–374. / Nature (1982)
10.1016/S0896-6273(00)80231-7
10.1016/0006-291X(91)91627-O
St. George-Hyslop P. Genetics of Alzheimer disease. In: Markesbery W ed. Neuropathology of dementing disease. London: Edward Arnold Publishers 1997.
10.1097/00001756-199607080-00009
10.1001/jama.1997.03540340027028
10.1001/archneur.55.5.698
10.1136/jnnp.64.1.44
10.1002/ana.410420121
10.1093/brain/120.3.491
10.1212/WNL.49.6.1732
10.1097/00001756-199612200-00074
10.1523/JNEUROSCI.18-12-04439.1998
10.1096/fasebj.9.2.7781924
10.1016/S0166-2236(97)01156-9
10.1073/pnas.95.6.3227
10.1074/jbc.273.20.12341
10.1073/pnas.90.7.2628
10.1523/JNEUROSCI.10-07-02400.1990
10.1038/387288a0
10.1038/383707a0
10.1016/S0092-8674(00)80356-6

Dates

Type	When
Created	13 years, 3 months ago (May 13, 2012, 9:38 a.m.)
Deposited	1 year, 5 months ago (March 27, 2024, 6:33 a.m.)
Indexed	2 months, 2 weeks ago (June 17, 2025, 1:46 a.m.)
Issued	26 years, 6 months ago (Feb. 1, 1999)
Published	26 years, 6 months ago (Feb. 1, 1999)
Published Print	26 years, 6 months ago (Feb. 1, 1999)

Funders 0

None

BibTeX

@article{Ezquerra_1999, title={A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures}, volume={52}, ISSN={1526-632X}, url={http://dx.doi.org/10.1212/wnl.52.3.566}, DOI={10.1212/wnl.52.3.566}, number={3}, journal={Neurology}, publisher={Ovid Technologies (Wolters Kluwer Health)}, author={Ezquerra, M. and Carnero, C. and Blesa, R. and Gelpí, J.L. and Ballesta, F. and Oliva, R.}, year={1999}, month=feb, pages={566–566} }

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