304 related articles for article (PubMed ID: 15776278)
1. Novel mutations and repeated findings of mutations in familial Alzheimer disease.
Finckh U; Kuschel C; Anagnostouli M; Patsouris E; Pantes GV; Gatzonis S; Kapaki E; Davaki P; Lamszus K; Stavrou D; Gal A
Neurogenetics; 2005 May; 6(2):85-9. PubMed ID: 15776278
[TBL] [Abstract][Full Text] [Related]
2. Mutations of presenilin genes in dilated cardiomyopathy and heart failure.
Li D; Parks SB; Kushner JD; Nauman D; Burgess D; Ludwigsen S; Partain J; Nixon RR; Allen CN; Irwin RP; Jakobs PM; Litt M; Hershberger RE
Am J Hum Genet; 2006 Dec; 79(6):1030-9. PubMed ID: 17186461
[TBL] [Abstract][Full Text] [Related]
3. Genetic aspects of Alzheimer's disease.
Zekanowski C; Religa D; Graff C; Filipek S; Kuźnicki J
Acta Neurobiol Exp (Wars); 2004; 64(1):19-31. PubMed ID: 15190677
[TBL] [Abstract][Full Text] [Related]
4. Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Karch CM; Hernández D; Wang JC; Marsh J; Hewitt AW; Hsu S; Norton J; Levitch D; Donahue T; Sigurdson W; Ghetti B; Farlow M; Chhatwal J; Berman S; Cruchaga C; Morris JC; Bateman RJ; ; Pébay A; Goate AM
Alzheimers Res Ther; 2018 Jul; 10(1):69. PubMed ID: 30045758
[TBL] [Abstract][Full Text] [Related]
5. Dominant negative mechanism of
Watanabe H; Shen J
Proc Natl Acad Sci U S A; 2017 Nov; 114(48):12635-12637. PubMed ID: 29142009
[No Abstract] [Full Text] [Related]
6. The Alzheimer family of diseases: many etiologies, one pathogenesis?
Hardy J
Proc Natl Acad Sci U S A; 1997 Mar; 94(6):2095-7. PubMed ID: 9122152
[No Abstract] [Full Text] [Related]
7. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
Goate A; Chartier-Harlin MC; Mullan M; Brown J; Crawford F; Fidani L; Giuffra L; Haynes A; Irving N; James L
Nature; 1991 Feb; 349(6311):704-6. PubMed ID: 1671712
[TBL] [Abstract][Full Text] [Related]
8. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
Raux G; Guyant-Maréchal L; Martin C; Bou J; Penet C; Brice A; Hannequin D; Frebourg T; Campion D
J Med Genet; 2005 Oct; 42(10):793-5. PubMed ID: 16033913
[TBL] [Abstract][Full Text] [Related]
9. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Guerreiro RJ; Baquero M; Blesa R; Boada M; Brás JM; Bullido MJ; Calado A; Crook R; Ferreira C; Frank A; Gómez-Isla T; Hernández I; Lleó A; Machado A; Martínez-Lage P; Masdeu J; Molina-Porcel L; Molinuevo JL; Pastor P; Pérez-Tur J; Relvas R; Oliveira CR; Ribeiro MH; Rogaeva E; Sa A; Samaranch L; Sánchez-Valle R; Santana I; Tàrraga L; Valdivieso F; Singleton A; Hardy J; Clarimón J
Neurobiol Aging; 2010 May; 31(5):725-31. PubMed ID: 18667258
[TBL] [Abstract][Full Text] [Related]
10. The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.
Wallon D; Rousseau S; Rovelet-Lecrux A; Quillard-Muraine M; Guyant-Maréchal L; Martinaud O; Pariente J; Puel M; Rollin-Sillaire A; Pasquier F; Le Ber I; Sarazin M; Croisile B; Boutoleau-Bretonnière C; Thomas-Antérion C; Paquet C; Moreaud O; Gabelle A; Sellal F; Sauvée M; Laquerrière A; Duyckaerts C; Delisle MB; Streichenberger N; Lannes B; Frebourg T; Hannequin D; Campion D;
J Alzheimers Dis; 2012; 30(4):847-56. PubMed ID: 22475797
[TBL] [Abstract][Full Text] [Related]
11. A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
Di Fede G; Catania M; Morbin M; Rossi G; Suardi S; Mazzoleni G; Merlin M; Giovagnoli AR; Prioni S; Erbetta A; Falcone C; Gobbi M; Colombo L; Bastone A; Beeg M; Manzoni C; Francescucci B; Spagnoli A; Cantù L; Del Favero E; Levy E; Salmona M; Tagliavini F
Science; 2009 Mar; 323(5920):1473-7. PubMed ID: 19286555
[TBL] [Abstract][Full Text] [Related]
12. Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort.
Lindquist SG; Schwartz M; Batbayli M; Waldemar G; Nielsen JE
Clin Genet; 2009 Aug; 76(2):205-9. PubMed ID: 19659892
[TBL] [Abstract][Full Text] [Related]
13. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
Cruts M; van Duijn CM; Backhovens H; Van den Broeck M; Wehnert A; Serneels S; Sherrington R; Hutton M; Hardy J; St George-Hyslop PH; Hofman A; Van Broeckhoven C
Hum Mol Genet; 1998 Jan; 7(1):43-51. PubMed ID: 9384602
[TBL] [Abstract][Full Text] [Related]
14. Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
Broomfield A; Fletcher J; Davison J; Finnegan N; Fenton M; Chikermane A; Beesley C; Harvey K; Cullen E; Stewart C; Santra S; Vijay S; Champion M; Abulhoul L; Grunewald S; Chakrapani A; Cleary MA; Jones SA; Vellodi A
J Inherit Metab Dis; 2016 Mar; 39(2):261-71. PubMed ID: 26497565
[TBL] [Abstract][Full Text] [Related]
15. Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
Nelson O; Supnet C; Liu H; Bezprozvanny I
J Alzheimers Dis; 2010; 21(3):781-93. PubMed ID: 20634584
[TBL] [Abstract][Full Text] [Related]
16. Gain-of-function enhancement of IP3 receptor modal gating by familial Alzheimer's disease-linked presenilin mutants in human cells and mouse neurons.
Cheung KH; Mei L; Mak DO; Hayashi I; Iwatsubo T; Kang DE; Foskett JK
Sci Signal; 2010 Mar; 3(114):ra22. PubMed ID: 20332427
[TBL] [Abstract][Full Text] [Related]
17. Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
Pittis MG; Donnarumma M; Montalvo AL; Dominissini S; Kroos M; Rosano C; Stroppiano M; Bianco MG; Donati MA; Parenti G; D'Amico A; Ciana G; Di Rocco M; Reuser A; Bembi B; Filocamo M
Hum Mutat; 2008 Jun; 29(6):E27-36. PubMed ID: 18429042
[TBL] [Abstract][Full Text] [Related]
18. Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.
Nelson O; Tu H; Lei T; Bentahir M; de Strooper B; Bezprozvanny I
J Clin Invest; 2007 May; 117(5):1230-9. PubMed ID: 17431506
[TBL] [Abstract][Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]