APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM, Nicolas G, Wallon D, Rovelet-Lecrux A, Lacour M, Rousseau S, Richard AC, Pasquier F, Rollin-Sillaire A, Martinaud O, Quillard-Muraine M, de la Sayette V, Boutoleau-Bretonniere C, Etcharry-Bouyx F, Chauviré V, Sarazin M, le Ber I, Epelbaum S, Jonveaux T, Rouaud O, Ceccaldi M, Félician O, Godefroy O, Formaglio M, Croisile B, Auriacombe S, Chamard L, Vincent JL, Sauvée M, Marelli-Tosi C, Gabelle A, Ozsancak C, Pariente J, Paquet C, Hannequin D, Campion D; collaborators of the CNR-MAJ project.
PLoS Med. 2017 Mar 28;14(3):e1002270. doi: 10.1371/journal.pmed.1002270. eCollection 2017 Mar.
PMID:28350801
Early-onset Alzheimer's disease due to novel LDLR gene mutation.
Perković R, Frančić M, Petrović R, Ozretić D, Škara S, Pećin I, Borovečki F.
Wu L, Rosa-Neto P, Hsiung GY, Sadovnick AD, Masellis M, Black SE, Jia J, Gauthier S.
Can J Neurol Sci. 2012 Jul;39(4):436-45. doi: 10.1017/s0317167100013949.
PMID:22728850
Early-onset familial Alzheimer's disease in a family with mutation of presenilin 2 gene.
Li C, Xiao X, Wang J, Shen L, Jiao B.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Feb 28;46(2):189-194. doi: 10.11817/j.issn.1672-7347.2021.190616.
PMID:33678657
Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer's Disease with De Novo PSEN1 Mutation.
Liu J, Wang Q, Jing D, Gao R, Zhang J, Cui C, Qiao H, Liang Z, Wang C, Rosa-Neto P, Wu L, Jia J, Gauthier S.