Publications:

The role of de novo mutations in adult-onset neurodegenerative disorders.

Acta Neuropathologica

Nicolas, Gaël G; Veltman, Joris A JA

Publication Date: 2019-02

Variant appearance in text: PSEN1: 350C>A; Pro117Gln

PubMed Link: 30478624

Variant Present in the following documents:

• 401_2018_1939_MOESM1_ESM.xlsx, sheet 1

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Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID.

Nature Communications

Sasaguri, Hiroki H; Nagata, Kenichi K; Sekiguchi, Misaki M; Fujioka, Ryo R; Matsuba, Yukio Y; Hashimoto, Shoko S; Sato, Kaori K; Kurup, Deepika D; Yokota, Takanori T; Saido, Takaomi C TC

Publication Date: 2018-07-24

Variant appearance in text: PS1: P117Q

PubMed Link: 30042426

Variant Present in the following documents:

• Main text
• 41467_2018_Article_5262.pdf

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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Plos Medicine

Lanoiselée, Hélène-Marie HM; Nicolas, Gaël G; Wallon, David D; Rovelet-Lecrux, Anne A; Lacour, Morgane M; Rousseau, Stéphane S; Richard, Anne-Claire AC; Pasquier, Florence F; Rollin-Sillaire, Adeline A; Martinaud, Olivier O; Quillard-Muraine, Muriel M; de la Sayette, Vincent V; Boutoleau-Bretonniere, Claire C; Etcharry-Bouyx, Frédérique F; Chauviré, Valérie V; Sarazin, Marie M; le Ber, Isabelle I; Epelbaum, Stéphane S; Jonveaux, Thérèse T; Rouaud, Olivier O; Ceccaldi, Mathieu M; Félician, Olivier O; Godefroy, Olivier O; Formaglio, Maite M; Croisile, Bernard B; Auriacombe, Sophie S; Chamard, Ludivine L; Vincent, Jean-Louis JL; Sauvée, Mathilde M; Marelli-Tosi, Cecilia C; Gabelle, Audrey A; Ozsancak, Canan C; Pariente, Jérémie J; Paquet, Claire C; Hannequin, Didier D; Campion, Dominique D; ,

Publication Date: 2017-03

Variant appearance in text: PSEN1: 350C>A; Pro117Gln

PubMed Link: 28350801

Variant Present in the following documents:

• Main text
• pmed.1002270.pdf

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