Association of Pick's disease with the MAPT H2 haplotype von Nicolas, Gaël

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The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation von Nicolas, Gaël, Chauvet, Caroline, Viatte, Lydie, Danan, Jean Louis, Bigard, Xavier, Devaux, Isabelle, Beaumont, Carole, Kahn, Axel, Vaulont, Sophie

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SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data von Campion, Dominique, Charbonnier, Camille, Nicolas, Gaël

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The role of de novo mutations in adult-onset neurodegenerative disorders von Nicolas, Gaël, Veltman, Joris A.

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Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes von Schramm, Catherine, Charbonnier, Camille, Zaréa, Aline, Lacour, Morgane, Wallon, David, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Alarcon, Flora, Campion, Dominique, Nuel, Grégory, Nicolas, Gaël

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Deciphering the Chemical Lexicon of Host–Gut Microbiota Interactions von Nicolas, Gael R., Chang, Pamela V.

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The AMP-activated protein kinase α2 catalytic subunit controls whole-body insulin sensitivity von Viollet, Benoit, Andreelli, Fabrizio, Jørgensen, Sebastian B., Perrin, Christophe, Geloen, Alain, Flamez, Daisy, Mu, James, Lenzner, Claudia, Baud, Olivier, Bennoun, Myriam, Gomas, Emmanuel, Nicolas, Gaël, Wojtaszewski, Jørgen F.P., Kahn, Axel, Carling, David, Schuit, Frans C., Birnbaum, Morris J., Richter, Erik A., Burcelin, Rémy, Vaulont, Sophie

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Deregulation of proteins involved in iron metabolism in hepcidin-deficient mice von Viatte, Lydie, Lesbordes-Brion, Jeanne-Claire, Lou, Dan-Qing, Bennoun, Myriam, Nicolas, Gaël, Kahn, Axel, Canonne-Hergaux, François, Vaulont, Sophie

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One Train May Hide Another: Two Cases of Co-Occurring Primary Familial Brain Calcification and Alzheimer’s Disease von Timmi, Andrea, Morin, Alexandre, Guillin, Olivier, Nicolas, Gaël

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Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeost... von López-Sánchez, Uriel, Tury, Sandrine, Nicolas, Gaël, Wilson, Miranda S., Jurici, Snejana, Ayrignac, Xavier, Courgnaud, Valérie, Saiardi, Adolfo, Sitbon, Marc, Battini, Jean-Luc

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Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy von Nicolas, Gaël, Wallon, David, Goupil, Claudia, Richard, Anne-Claire, Pottier, Cyril, Dorval, Véronique, Sarov-Rivière, Mariana, Riant, Florence, Hervé, Dominique, Amouyel, Philippe, Guerchet, Maelenn, Ndamba-Bandzouzi, Bebene, Mbelesso, Pascal, Dartigues, Jean-François, Lambert, Jean-Charles, Preux, Pierre-Marie, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Tournier-Lasserve, Elisabeth, Hébert, Sébastien S, Rovelet-Lecrux, Anne

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Functional differences between hepcidin 1 and 2 in transgenic mice von Lou, Dan-Qing, Nicolas, Gaël, Lesbordes, Jeanne-Claire, Viatte, Lydie, Grimber, Gisèle, Szajnert, Marie-France, Kahn, Axel, Vaulont, Sophie

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Reply: New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy von Nicolas, Gaël, Grangeon, Lou, Wallon, David

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Reply: Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia von Nicolas, Gael, Grangeon, Lou, Wallon, David

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Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification von Nicolas, Gaël, Charbonnier, Camille, Campion, Dominique, Veltman, Joris A.

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Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing von Lecoquierre, François, Cassinari, Kévin, Drouot, Nathalie, May, Angèle, Fourneaux, Steeve, Charbonnier, Francoise, Derambure, Celine, Coutant, Sophie, Saugier-Veber, Pascale, Hoischen, Alexander, Charbonnier, Camille, Nicolas, Gaël

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A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria von Ducamp, Sarah, Luscieti, Sara, Ferrer-Cortes, Xenia, Nicolas, Gael, Manceau, Hana, Peoc'h, Katell, Yien, Yvette Y., Kannengiesser, Caroline, Gouya, Laurent, Puy, Herve, Sanchez, Mayka

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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases von 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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Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers von Nicolas, Gaël, Charbonnier, Camille, de Lemos, Roberta Rodrigues, Richard, Anne-Claire, Guillin, Olivier, Wallon, David, Legati, Andrea, Geschwind, Daniel, Coppola, Giovanni, Frebourg, Thierry, Campion, Dominique, de Oliveira, João Ricardo Mendes, Hannequin, Didier

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Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders von Duval, Romain, Nicolas, Gaël, Willemetz, Alexandra, Murakami, Yoshiko, Mikdar, Mahmoud, Vrignaud, Cedric, Megahed, Hisham, Cartron, Jean-Pierre, Masson, Cecile, Wehbi, Samer, Koehl, Bérengere, Hully, Marie, Siquier, Karine, Chemlay, Nicole, Rotig, Agnes, Lyonnet, Stanislas, Colin, Yves, Barcia, Giulia, Cantagrel, Vincent, Le Van Kim, Caroline, Hermine, Olivier, Kinoshita, Taroh, Peyrard, Thierry, Azouzi, Slim

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