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

@inproceedings{Lanoisele2017APPPA,
  title={APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases},
  author={H{\'e}l{\`e}ne-Marie Lanoisel{\'e}e and Ga{\"e}l Nicolas and David Wallon and Anne Rovelet-Lecrux and Morgane Lacour and St{\'e}phane Rousseau and A. Richard and Florence Pasquier and Adeline Rollin-Sillaire and Olivier Martinaud and Muriel Quillard-Muraine and Vincent de la Sayette and Claire Boutoleau-Bretonni{\'e}re and F Etcharry-Bouyx and Val{\'e}rie Chauvir{\'e} and Marie Sarazin and I Le Ber and St{\'e}phane Epelbaum and Th{\'e}r{\`e}se Rivasseau Jonveaux and Olivier Rouaud and Mathieu Ceccaldi and Olivier Felician and Olivier Godefroy and Mait{\'e} Formaglio and Bernard Croisile and S. Auriacombe and Ludivine Chamard and J K Vincent and Mathilde Sauv{\'e}e and Cecilia Marelli-Tosi and Audrey Gabelle and Canan Ozsancak and J{\'e}r{\'e}mie Pariente and Claire Paquet and Didier Hannequin and Dominique Campion},
  booktitle={PLoS medicine},
  year={2017}
}
BACKGROUND 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. METHODS AND FINDINGS We report here a novel update (2012-2016) of the genetic screening of the large AD-EOAD series ascertained across 28 French hospitals from… CONTINUE READING
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Analysis of protein - coding genetic variation in 60 , 706 humans

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