{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T15:11:16Z","timestamp":1767625876486},"reference-count":39,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology"],"published-print":{"date-parts":[[1999,2]]},"DOI":"10.1212\/wnl.52.3.566","type":"journal-article","created":{"date-parts":[[2012,5,13]],"date-time":"2012-05-13T13:38:22Z","timestamp":1336916302000},"page":"566-566","source":"Crossref","is-referenced-by-count":33,"title":["A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures"],"prefix":"10.1212","volume":"52","author":[{"given":"M.","family":"Ezquerra","sequence":"first","affiliation":[{"name":"From the Genetics Service IDIBAPS (M. Ezquerraand Drs. Ballesta and Oliva), Institut de Investigacio\u0301 Biome\u0301dica Agusti\u0301 Pi i Sunyer, Hospital Cli\u0301nic and Faculty of Medicine, University of Barcelona; Neurology Service of the Hospital Universitario Virgen de las Nieves (Dr. Carnero), Granada; Neurology Service (Dr. Blesa), Hospital Cli\u0301nic, Barcelona; and Biochemistry Department (Dr. Gelpi\u0301), Faculty of Chemistry, University of Barcelona, Spain."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Carnero","sequence":"additional","affiliation":[{"name":"From the Genetics Service IDIBAPS (M. Ezquerraand Drs. Ballesta and Oliva), Institut de Investigacio\u0301 Biome\u0301dica Agusti\u0301 Pi i Sunyer, Hospital Cli\u0301nic and Faculty of Medicine, University of Barcelona; Neurology Service of the Hospital Universitario Virgen de las Nieves (Dr. Carnero), Granada; Neurology Service (Dr. Blesa), Hospital Cli\u0301nic, Barcelona; and Biochemistry Department (Dr. Gelpi\u0301), Faculty of Chemistry, University of Barcelona, Spain."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Blesa","sequence":"additional","affiliation":[{"name":"From the Genetics Service IDIBAPS (M. Ezquerraand Drs. Ballesta and Oliva), Institut de Investigacio\u0301 Biome\u0301dica Agusti\u0301 Pi i Sunyer, Hospital Cli\u0301nic and Faculty of Medicine, University of Barcelona; Neurology Service of the Hospital Universitario Virgen de las Nieves (Dr. Carnero), Granada; Neurology Service (Dr. Blesa), Hospital Cli\u0301nic, Barcelona; and Biochemistry Department (Dr. Gelpi\u0301), Faculty of Chemistry, University of Barcelona, Spain."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.L.","family":"Gelpi\u0301","sequence":"additional","affiliation":[{"name":"From the Genetics Service IDIBAPS (M. Ezquerraand Drs. Ballesta and Oliva), Institut de Investigacio\u0301 Biome\u0301dica Agusti\u0301 Pi i Sunyer, Hospital Cli\u0301nic and Faculty of Medicine, University of Barcelona; Neurology Service of the Hospital Universitario Virgen de las Nieves (Dr. Carnero), Granada; Neurology Service (Dr. Blesa), Hospital Cli\u0301nic, Barcelona; and Biochemistry Department (Dr. Gelpi\u0301), Faculty of Chemistry, University of Barcelona, Spain."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Ballesta","sequence":"additional","affiliation":[{"name":"From the Genetics Service IDIBAPS (M. Ezquerraand Drs. Ballesta and Oliva), Institut de Investigacio\u0301 Biome\u0301dica Agusti\u0301 Pi i Sunyer, Hospital Cli\u0301nic and Faculty of Medicine, University of Barcelona; Neurology Service of the Hospital Universitario Virgen de las Nieves (Dr. Carnero), Granada; Neurology Service (Dr. Blesa), Hospital Cli\u0301nic, Barcelona; and Biochemistry Department (Dr. Gelpi\u0301), Faculty of Chemistry, University of Barcelona, Spain."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Oliva","sequence":"additional","affiliation":[{"name":"From the Genetics Service IDIBAPS (M. Ezquerraand Drs. Ballesta and Oliva), Institut de Investigacio\u0301 Biome\u0301dica Agusti\u0301 Pi i Sunyer, Hospital Cli\u0301nic and Faculty of Medicine, University of Barcelona; Neurology Service of the Hospital Universitario Virgen de las Nieves (Dr. Carnero), Granada; Neurology Service (Dr. Blesa), Hospital Cli\u0301nic, Barcelona; and Biochemistry Department (Dr. Gelpi\u0301), Faculty of Chemistry, University of Barcelona, Spain."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/375754a0"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.Supplement_1.1449"},{"key":"e_1_3_2_4_2","first-page":"678","volume":"269","year":"1995","unstructured":"Levy-Lahad E, Wasco W, Yu C, et al. Candidate gene for the chromosome 1 familial Alzheimer\u2019s disease locus. Science 1995;269:678\u2013680.","journal-title":"Science"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/349704a0"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-199602290-00029"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410618"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(97)00950-6"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/377351a0"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)91140-X"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(97)00328-5"},{"key":"e_1_3_2_13_2","first-page":"515","volume":"69","year":"1977","unstructured":"Montero J, Arbizu R, Ferrer I, Aguilar M, Peres-Serra J. Clinical and pathologic study of an early case of Alzheimer\u2019s disease. Med Clin (Barc) 1977;69:515\u2013518.","journal-title":"Med Clin (Barc)"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390419"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(77)80200-3"},{"key":"e_1_3_2_16_2","first-page":"389","volume":"17","year":"1996","unstructured":"Murgolo NJ, Brown JE, Bayne ML, Strader CD. Presenilins mutations in Alzheimer\u2019s disease : molecular models suggest a potential functional locus. Trends in Protein Science 1996;17:389\u2013393.","journal-title":"Trends in Protein Science"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/prot.340040106"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(91)90695-3"},{"key":"e_1_3_2_19_2","first-page":"371","volume":"199","year":"1982","unstructured":"Eisenberg D, Weiss R, Terwillinger TC. The helical hydrophobic moment : a measure of the amphiphilicity of a helix. Nature 1982;199:371\u2013374.","journal-title":"Nature"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80231-7"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(91)91627-O"},{"key":"e_1_3_2_22_2","unstructured":"St. George-Hyslop P. Genetics of Alzheimer disease. In: Markesbery W ed. Neuropathology of dementing disease. London: Edward Arnold Publishers 1997."},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-199607080-00009"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1997.03540340027028"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.55.5.698"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.64.1.44"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420121"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.3.491"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.6.1732"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-199612200-00074"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.18-12-04439.1998"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.9.2.7781924"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(97)01156-9"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.6.3227"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.20.12341"},{"key":"e_1_3_2_36_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.7.2628"},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.10-07-02400.1990"},{"key":"e_1_3_2_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/387288a0"},{"key":"e_1_3_2_39_2","doi-asserted-by":"publisher","DOI":"10.1038\/383707a0"},{"key":"e_1_3_2_40_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80356-6"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/full\/10.1212\/WNL.52.3.566","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T10:33:31Z","timestamp":1711535611000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.52.3.566"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,2]]},"references-count":39,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1999,2]]}},"alternative-id":["10.1212\/WNL.52.3.566"],"URL":"https:\/\/doi.org\/10.1212\/wnl.52.3.566","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,2]]}}}