APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of famil...
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
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collaborators of the CNR-MAJ project , Lanoiselée, Hélène-Marie , Nicolas, Gaël , Wallon, David , Rovelet-Lecrux, Anne , Lacour, Morgane , Rousseau, Stéphane , Richard, Anne-Claire , Pasquier, Florence , Rollin-Sillaire, Adeline , Martinaud, Olivier , Quillard-Muraine, Muriel , de la Sayette, Vincent , Boutoleau-Bretonniere, Claire , Etcharry-Bouyx, Frédérique , Chauviré, Valérie , Sarazin, Marie , le Ber, Isabelle , Epelbaum, Stéphane , Jonveaux, Thérèse , Rouaud, Olivier , Ceccaldi, Mathieu , Félician, Olivier , Godefroy, Olivier , Formaglio, Maite , Croisile, Bernard , Auriacombe, Sophie , Chamard, Ludivine , Vincent, Jean-Louis , Sauvée, Mathilde , Marelli-Tosi, Cecilia , Gabelle, Audrey , Ozsancak, Canan , Pariente, Jérémie , Paquet, Claire , Hannequin, Didier and Campion, Dominique
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
Amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD-EOAD). Although these genes were identified in the 1990s, variant classification remains a challenge, highlighting the need to colligate mutations from large series.
We report here a novel...
Alternative Titles
Full title
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
Authors, Artists and Contributors
Author / Creator
Lanoiselée, Hélène-Marie
Nicolas, Gaël
Wallon, David
Rovelet-Lecrux, Anne
Lacour, Morgane
Rousseau, Stéphane
Richard, Anne-Claire
Pasquier, Florence
Rollin-Sillaire, Adeline
Martinaud, Olivier
Quillard-Muraine, Muriel
de la Sayette, Vincent
Boutoleau-Bretonniere, Claire
Etcharry-Bouyx, Frédérique
Chauviré, Valérie
Sarazin, Marie
le Ber, Isabelle
Epelbaum, Stéphane
Jonveaux, Thérèse
Rouaud, Olivier
Ceccaldi, Mathieu
Félician, Olivier
Godefroy, Olivier
Formaglio, Maite
Croisile, Bernard
Auriacombe, Sophie
Chamard, Ludivine
Vincent, Jean-Louis
Sauvée, Mathilde
Marelli-Tosi, Cecilia
Gabelle, Audrey
Ozsancak, Canan
Pariente, Jérémie
Paquet, Claire
Hannequin, Didier
Campion, Dominique
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Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1888656301
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1888656301
Other Identifiers
ISSN
1549-1676,1549-1277
E-ISSN
1549-1676
DOI
10.1371/journal.pmed.1002270
