Gael Nicolas

1984 -

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Artikel 64

Date

Judul

Pengarang

2021-12-18

Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease

Laure Guilhaudis, Gael Nicolas, Magalie Lecourtois
2020-02-14

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

Florence Petit, Gael Nicolas
2020-02-24

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Thomas Husson, Olivier Quenez, Anne Boland, Gael Nicolas, Dominique Campion
2020-02-01

Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation

Patricia Hermand, Gael Nicolas, Marc Cloutier
2020-05-11

Interplay between PFBC-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis

Uriel López-Sánchez, Sandrine Tury, Gael Nicolas, Miranda Wilson, Adolfo Saiardi, Jean-Luc Battini
2020-06-07

Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

Kévin Cassinari, Gael Nicolas, Dominique Campion
2020-06-26

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Olivier Quenez, Anne Boland, Gael Nicolas, Dominique Campion
2020-08-20

Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker-based case-control study

Aurore Fayosse, Emmanuel Cognat, Séverine Sabia, Sebastiaan Engelborghs, David Wallon, Inga Zerr, Mercè Boada, Itziar De Rojas, Christine Van Broeckhoven, Janine Diehl-Schmid, Timo Grimmer, Aline Dugravot, Gael Nicolas, Sylvain Lehmann, Elodie Bouaziz-Amar, Christophe Tzourio, Archana Singh-Manoux, Julien Dumurgier, Alzheimer's Disease Neuroimaging Initiative, Henrik Zetterberg, Lucilla Parnetti, Kaj Blennow, Lucia Farotti, Claire Hourregue, Matthieu Lilamand, Jean-Louis Laplanche, Jacques Hugon, Claire Paquet
2019-05-01

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

Uriel López-Sánchez, Gael Nicolas, Xavier Ayrignac, Gilles Labesse, Jean-Luc Battini, Marc Sitbon, Cyril Goizet, Mahmoud Charif
2019-10-21

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

Yuning Chen, William S Bush, Daniel Lancour, Alan Renton, Philippe Amouyel, Jaeyoon Chung, Alison Goate, M. Arfan Ikram, Jaakko Kaprio, Honghuang Lin, Benjamin M. Neale, Gael Nicolas, Sven J van der Lee, Céline Bellenguez, Jean-Charles Lambert, Mark Joseph Daly, Kathryn L. Lunetta, Sudha Seshadri, Adam C Naj, Dominique Campion, Kwangsik Nho, Eric Lander, Paul K. Crane, Cornelia M. van Duijn, Chloé Sarnowski, L. Adrienne Cupples, Donna Muzny, Bruce M. Psaty, Joshua C Bis, Timothy A Thornton, Emmanuelle Génin, Brian W Kunkle, Jonathan L Haines, Aki S Havulinna, Mark Lathrop, Margaret A. Pericak-Vance, Kim C Worley, Gerard D Schellenberg, Lindsay A. Farrer, Eric Boerwinkle, Namrata Gupta, Josée Dupuis, Veikko Salomaa, William J Salerno, Stacey Gabriel, Xueqiu Jian, Christophe Tzourio, Camille Charbonnier, Carlos Cruchaga, Stephanie Debette, Jean-François Deleuze, Benjamin Grenier-Boley, Seppo Helisalmi, Amanda B Kuzma, Waleed Nasser, Devanshi Patel, Olivier Quenez, Farid Rajabli, Richard Redon, Giuseppe Tosto, Kara L Hamilton-Nelson, Edoardo Marcora, Najaf Amin, Laura B Cantwell, Daniel P Howrigan, Richard Mayeux, Christiane Reitz, Anne M Remes, Otto Valladares, Weixin Wang, Alzheimer’s Disease Sequencing Project, Mitja Kurki, Aarno Palotie, Anita L DeStefano, Terho Lehtimäki, Jean-François Dartigues, Jennifer Elizabeth Below, Ellen M. Wijsman, Lucinda Fulton, Richard A Gibbs, Richard K. Wilson
2019-01-31

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria

Zoubida Karim, Katell Peoc'h, Hugo Lenglet, Gael Nicolas
2019-11-21

Iron deficiency and anemia in adolescent girls consuming predominantly plant-based diets in rural Ethiopia

Gael Nicolas
2019-01-23

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias

Katell Peoc'h, Gael Nicolas, Zoubida Karim
2019-09-01

Reply: New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy

Gael Nicolas
2019-05-20

Significant contribution of intragenic deletions to ARID1B mutation spectrum

Svetlana Gorokhova, Jeremie Mortreux, Tania Attié-Bitach, Gael Nicolas, Alexandra Afenjar
2019-08-07

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder

François Lecoquierre, Gael Nicolas, Jean-Baptiste Leca
2019-03-25

SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data

Gael Nicolas, Dominique Campion
2018-06-28

Primary brain calcification: an international study reporting novel variants and associated phenotypes

Miryam Carecchio, Andrea Legati, Renee L. Sears, Xavier Ayrignac, A. Micheil Innes, William B. Dobyns, Giovanni Coppola, Gael Nicolas, Dominique Campion, Daniel Geschwind, Lylyan F Pimentel, Christine Tranchant, Cyril Goizet
2018-08-14

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

Joshua C Bis, Yuning Chen, William S Bush, Daniel Lancour, Alan Renton, Philippe Amouyel, Jaeyoon Chung, Emmanuelle Génin, Alison Goate, M. Arfan Ikram, Jaakko Kaprio, Honghuang Lin, Benjamin M. Neale, Gael Nicolas, Sven J van der Lee, Kim C Worley, Céline Bellenguez, Jean-Charles Lambert, Mark Joseph Daly, Kathryn L. Lunetta, Sudha Seshadri, Adam C Naj, Dominique Campion, Chloé Sarnowski, Kwangsik Nho, Eric Lander, Paul K. Crane, Cornelia M. van Duijn, L. Adrienne Cupples, Donna Muzny, Bruce M. Psaty, Timothy A Thornton, Brian W Kunkle, Jonathan L Haines, Aki S Havulinna, Mark Lathrop, Margaret A. Pericak-Vance, Gerard D Schellenberg, Lindsay A. Farrer, Eric Boerwinkle, Namrata Gupta, Josée Dupuis, Veikko Salomaa, William J Salerno, Xueqiu Jian, Christophe Tzourio, Camille Charbonnier, Carlos Cruchaga, Stephanie Debette, Jean-François Deleuze, Benjamin Grenier-Boley, Seppo Helisalmi, Amanda B Kuzma, Waleed Nasser, Devanshi Patel, Olivier Quenez, Farid Rajabli, Richard Redon, Giuseppe Tosto, Kara L Hamilton-Nelson, Edoardo Marcora, Najaf Amin, Laura B Cantwell, Daniel P Howrigan, Richard Mayeux, Christiane Reitz, Anne M Remes, Otto Valladares, Weixin Wang, Alzheimer’s Disease Sequencing Project, Mitja Kurki, Aarno Palotie, Anita L DeStefano, Terho Lehtimäki, Jean-François Dartigues, Jennifer Elizabeth Below, Lucinda Fulton
2018-11-26

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

Gael Nicolas, Joris A Veltman
2018-04-01

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

Hugo Lenglet, Gael Nicolas, Zoubida Karim
2017-06-19

Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review

Xavier Ayrignac, Gael Nicolas, Clarisse Carra-Dalliere
2017-04-28

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds

Kilan Le Guennec, Gael Nicolas, Dominique Campion
2017-05-06

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.

Didier Devys, Thomas Wirth, Gael Nicolas, Gabrielle Rudolf, Izzie Jacques Namer
2017-11-20

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification

Gael Nicolas, Joris A Veltman, Dominique Campion
2017-09-05

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.

Hana Manceau, Laurent Gouya, Zoubida Karim, Gael Nicolas
2016-12-22

From Common to Rare Variants: The Genetic Component of Alzheimer Disease

Gael Nicolas, Dominique Campion
2016-12-13

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

Jean-Charles Lambert, Kilan Le Guennec, Gael Nicolas, Peristera Paschou, Céline Bellenguez, Philippe Amouyel, Luc Letenneur, Florence Pasquier, Emmanuelle Génin, Gabor G Kovacs, Mark Lathrop, Benjamin Grenier-Boley, Anne Rovelet-Lecrux, Jean-François Dartigues
2016-05-26

XPR1 mutations are a rare cause of primary familial brain calcification

Mathieu Anheim, Uriel López-Sánchez, Gabrielle Rudolf, Jean-Luc Battini, Marc Sitbon, Gael Nicolas, Dominique Campion
2016-03-29

Alzheimer disease: modeling an Aβ-centered biological network.

Gael Nicolas, Kilan Le Guennec
2016-02-17

Differential Diagnosis of Dementia with High Levels of Cerebrospinal Fluid Tau Protein.

Katell Peoc'h, Romain Lefaucheur, Gael Nicolas, Julien Dumurgier, Florence Pasquier
2016-02-01

Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report

Gael Nicolas

Human - wd:Q55712290

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