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Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.
Published in:
Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01294-4
By:
- Rovelet-Lecrux, Anne;
- Feuillette, Sebastien;
- Miguel, Laetitia;
- Schramm, Catherine;
- Pernet, Ségolène;
- Quenez, Olivier;
- Ségalas-Milazzo, Isabelle;
- Guilhaudis, Laure;
- Rousseau, Stéphane;
- Riou, Gaëtan;
- Frébourg, Thierry;
- Campion, Dominique;
- Nicolas, Gaël;
- Lecourtois, Magalie
Publication type:
Article
Is the Urea Cycle Involved in Alzheimer's Disease?
Published in:
Journal of Alzheimer's Disease, 2010, v. 21, n. 3, p. 1013, doi. 10.3233/JAD-2010-100630
By:
- Hansmannel, Franck;
- Sillaire, Adeline;
- Kamboh, M. Ilyas;
- Lendon, Corinne;
- Pasquier, Florence;
- Hannequin, Didier;
- Laumet, Geoffroy;
- Mounier, Anais;
- Ayral, Anne-Marie;
- DeKosky, Steven T.;
- Hauw, Jean-Jacques;
- Berr, Claudine;
- Mann, David;
- Amouyel, Philippe;
- Campion, Dominique;
- Lambert, Jean-Charles
Publication type:
Article
Frontotemporal Dementia Phenotype Associated with MAPT Gene Duplication.
Published in:
Journal of Alzheimer's Disease, 2010, v. 21, n. 3, p. 897, doi. 10.3233/JAD-2010-100441
By:
- Rovelet-Lecrux, Anne;
- Hannequin, Didier;
- Guillin, Olivier;
- Legallic, Solenn;
- Jurici, Snejana;
- Wallon, David;
- Frebourg, Thierry;
- Campion, Dominique
Publication type:
Article
Implication of the Immune System in Alzheimer's Disease: Evidence from Genome-Wide Pathway Analysis.
Published in:
Journal of Alzheimer's Disease, 2010, v. 20, n. 4, p. 1107, doi. 10.3233/JAD-2010-100018
By:
- Lambert, Jean-Charles;
- Grenier-Boley, Benjamin;
- Chouraki, Vincent;
- Heath, Simon;
- Zelenika, Diana;
- Fievet, Nathalie;
- Hannequin, Didier;
- Pasquier, Florence;
- Hanon, Olivier;
- Brice, Alexis;
- Epelbaum, Jacques;
- Berr, Claudine;
- Dartigues, Jean-Francois;
- Tzourio, Christophe;
- Campion, Dominique;
- Lathrop, Mark;
- Amouyel, Philippe
Publication type:
Article
Systematic Analysis of Candidate Genes for Alzheimer's Disease in a French, Genome-Wide Association Study.
Published in:
Journal of Alzheimer's Disease, 2010, v. 20, n. 4, p. 1181, doi. 10.3233/JAD-2010-100126
By:
- Laumet, Geoffroy;
- Chouraki, Vincent;
- Grenier-Boley, Benjamin;
- Legry, Vanessa;
- Heath, Simon;
- Zelenika, Diana;
- Fievet, Nathalie;
- Hannequin, Didier;
- Delepine, Marc;
- Pasquier, Florence;
- Hanon, Olivier;
- Brice, Alexis;
- Epelbaum, Jacques;
- Berr, Claudine;
- Dartigues, Jean-Francois;
- Tzourio, Christophe;
- Campion, Dominique;
- Lathrop, Mark;
- Bertram, Lars;
- Amouyel, Philippe
Publication type:
Article
Amyloid precursor protein controls cholesterol turnover needed for neuronal activity.
Published in:
EMBO Molecular Medicine, 2013, v. 5, n. 4, p. 608, doi. 10.1002/emmm.201202215
By:
- Pierrot, Nathalie;
- Tyteca, Donatienne;
- D'auria, Ludovic;
- Dewachter, Ilse;
- Gailly, Philippe;
- Hendrickx, Aurélie;
- Tasiaux, Bernadette;
- Haylani, Laetitia El;
- Muls, Nathalie;
- N'Kuli, Francisca;
- Laquerrière, Annie;
- Demoulin, Jean‐Baptiste;
- Campion, Dominique;
- Brion, Jean‐Pierre;
- Courtoy, Pierre J.;
- Kienlen‐Campard, Pascal;
- Octave, Jean‐Noël
Publication type:
Article
Penetrance estimation of SORL1 loss‐of‐function variants adjusted on APOE genotypes suggest a non‐monogenic inheritance.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.056172
By:
- Schramm, Catherine;
- Charbonnier, Camille;
- Zarea, Aline;
- Wallon, David;
- Lacour, Morgane;
- Alarcon, Flora;
- Génin, Emmanuelle;
- Campion, Dominique;
- Nuel, Grégory;
- Nicolas, Gaël
Publication type:
Article
Assessment of SORL1 rare variants segregation in Alzheimer disease families and in vitro models suggests diverse penetrance and oligogenic inheritance: Genetics/genetic factors of Alzheimer's disease.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.044561
By:
- Nicolas, Gaël;
- Schramm, Catherine;
- Miguel, Laetitia;
- Lacour, Morgane;
- Rousseau, Stéphane;
- Wallon, David;
- Charbonnier, Camille;
- Zarea, Aline;
- Campion, Dominique;
- Rovelet‐Lecrux, Anne;
- Lecourtois, Magalie
Publication type:
Article
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, n. 12, p. 1632, doi. 10.1016/j.jalz.2018.06.3056
By:
- Nicolas, Gaël;
- Acuña‐Hidalgo, Rocío;
- Keogh, Michael J.;
- Quenez, Olivier;
- Steehouwer, Marloes;
- Lelieveld, Stefan;
- Rousseau, Stéphane;
- Richard, Anne‐Claire;
- Oud, Manon S.;
- Marguet, Florent;
- Laquerrière, Annie;
- Morris, Chris M.;
- Attems, Johannes;
- Smith, Colin;
- Ansorge, Olaf;
- Al Sarraj, Safa;
- Frebourg, Thierry;
- Campion, Dominique;
- Hannequin, Didier;
- Wallon, David
Publication type:
Article
Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 68, doi. 10.1002/ajmg.b.32605
By:
- Nicolas, Gaël;
- Charbonnier, Camille;
- Campion, Dominique;
- Veltman, Joris A.
Publication type:
Article
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 3, p. 377, doi. 10.1002/ajmg.b.32416
By:
- Richard, Anne Claire;
- Rovelet‐Lecrux, Anne;
- Delaby, Elsa;
- Charbonnier, Camille;
- Thiruvahindrapuram, Bhooma;
- Hatchwell, Eli;
- Eis, Peggy S.;
- Afenjar, Alexandra;
- Gilbert Dussardier, Brigitte;
- Scherer, Stephen W.;
- Betancur, Catalina;
- Campion, Dominique
Publication type:
Article
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2015, v. 168B, n. 7, p. 586, doi. 10.1002/ajmg.b.32336
By:
- 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
Publication type:
Article
Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01091-1
By:
- 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
Publication type:
Article
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01070-6
By:
- 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
Publication type:
Article
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 962, doi. 10.1002/ajmg.a.61505
By:
- Chilton, Ilana;
- Okur, Volkan;
- Vitiello, Giuseppina;
- Selicorni, Angelo;
- Mariani, Milena;
- Goldenberg, Alice;
- Husson, Thomas;
- Campion, Dominique;
- Lichtenbelt, Klaske D.;
- Gassen, Koen;
- Steinraths, Michelle;
- Rice, Jennifer;
- Roeder, Elizabeth R.;
- Littlejohn, Rebecca O.;
- Srour, Myriam;
- Sebire, Guillaume;
- Accogli, Andrea;
- Héron, Delphine;
- Heide, Solveig;
- Nava, Caroline
Publication type:
Article
Génétique de la schizophrénie Le complément, facteur de risque?
Published in:
Médecine Sciences, 2016, v. 32, n. 6, p. 556, doi. 10.1051/medsci/20163206009
By:
- Campion, Dominique
Publication type:
Article
Alzheimer's disease with age of onset less than 50 years: Genetic determinisms in sporadic cases
Published in:
2012
By:
- Wallon, David;
- Rovelet-Lecrux, Anne;
- Rousseau, Stephane;
- Martinaud, Olivier;
- Pottier, Cyril;
- Rollin, Adeline;
- Pasquier, Florence;
- Le Ber, Isabelle;
- Dubois, Bruno;
- Pariente, Jeremie;
- Paquet, Claire;
- Croisile, Bernard;
- Thomas-Anterion, Catherine;
- Campion, Dominique;
- Hannequin, Didier
Publication type:
Abstract
Characterization in drosophila of TDP-43 physiopathological pathways
Published in:
2011
By:
- Miguel, Laëtitia;
- Frébourg, Thierry;
- Campion, Dominique;
- Lecourtois, Magalie
Publication type:
Abstract
Genetics of early-onset Alzheimer disease in France
Published in:
2011
By:
- Wallon, David;
- Rovelet-Lecrux, Anne;
- Martinaud, Olivier;
- Legallic, Solène;
- Pottier, Cyril;
- Bombois, Stephanie;
- Mackowiak, Marie-Anne;
- Pasquier, Florence;
- Michon, Agnes;
- Leber, Isabelle;
- Dubois, Bruno;
- Pariente, Jeremie;
- Paquet, Claire;
- Croisile, Bernard;
- Thomas-Anterion, Catherine;
- Hannequin, Didier;
- Campion, Dominique
Publication type:
Abstract
Diagnostic delay, medical and social pathways of early-onset Alzheimer's disease patients
Published in:
2011
By:
- Paulin, Marion;
- Richard, Florence;
- Campion, Dominique;
- Wallon, David;
- Hannequin, Didier;
- Pasquier, Florence
Publication type:
Abstract
How prevalent are vascular lesions among early-onset Alzheimer's patients?
Published in:
2011
By:
- Bombois, Stephanie;
- Campion, Dominique;
- Hannequin, Didier;
- Delmaire, Christine;
- Lehéricy, Stéphane;
- Wallon, David;
- Cordonnier, Charlotte;
- Paulin, Marion;
- Gerardin, Emmanuel;
- Dubois, Bruno;
- Pasquier, Florence
Publication type:
Abstract
Association study of the ADAM12 and SH3MD1 genes with the risk of developing Alzheimer's disease
Published in:
2009
By:
- Laumet, Geoffroy;
- Petitprez, Vincent;
- Ayral, Anne-Marie;
- Hansmanel, Franck;
- Chapuis, Julien;
- Hannequin, Didier;
- Pasquier, Florence;
- Galimberti, Daniela;
- Scarpini, Elio;
- Lendon, Corinne;
- Campion, Dominique;
- Amouyel, Philippe;
- Lambert, Jean-Charles
Publication type:
Abstract
Urea cycle and Alzheimer's disease
Published in:
2009
By:
- Hansmannel, Franck;
- Mann, David;
- Lendon, Corinne;
- Hauw, Jean Jacques;
- Laumet, Geoffroy;
- Ayral, Anne Marie;
- Chapuis, Julien;
- Hannequin, Didier;
- DeKosky, Steven;
- Pasquier, Florence;
- Berr, Claudine;
- Galimberti, Daniela;
- Scarpini, Elio;
- Kamboh, Ilyas;
- Campion, Dominique;
- Amouyel, Philippe;
- Lambert, Jean Charles
Publication type:
Abstract
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
Published in:
Nature Genetics, 2009, v. 41, n. 10, p. 1094, doi. 10.1038/ng.439
By:
- Lambert, Jean-Charles;
- Heath, Simon;
- Even, Gael;
- Campion, Dominique;
- Sleegers, Kristel;
- Hiltunen, Mikko;
- Combarros, Onofre;
- Zelenika, Diana;
- Bullido, Maria J.;
- Tavernier, Béatrice;
- Letenneur, Luc;
- Bettens, Karolien;
- Berr, Claudine;
- Pasquier, Florence;
- Fiévet, Nathalie;
- Barberger-Gateau, Pascale;
- Engelborghs, Sebastiaan;
- de Deyn, Peter;
- Mateo, Ignacio;
- Franck, Ana
Publication type:
Article
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Published in:
Nature Genetics, 2006, v. 38, n. 1, p. 24, doi. 10.1038/ng1718
By:
- Rovelet-Lecrux, Anne;
- Hannequin, Didier;
- Raux, Gregory;
- Meur, Nathalie Le;
- Laquerrière, Annie;
- Vital, Anne;
- Dumanchin, Cécile;
- Feuillette, Sébastien;
- Brice, Alexis;
- Vercelletto, Martine;
- Dubas, Frédéric;
- Frebourg, Thierry;
- Campion, Dominique
Publication type:
Article
Neuron-to-Neuron Transfer of FUS in Drosophila Primary Neuronal Culture Is Enhanced by ALS-Associated Mutations.
Published in:
Journal of Molecular Neuroscience, 2017, v. 62, n. 1, p. 114, doi. 10.1007/s12031-017-0908-y
By:
- Feuillette, Sébastien;
- Delarue, Morgane;
- Riou, Gaëtan;
- Gaffuri, Anne-Lise;
- Wu, Jane;
- Lenkei, Zsolt;
- Boyer, Olivier;
- Frébourg, Thierry;
- Campion, Dominique;
- Lecourtois, Magalie
Publication type:
Article
PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy.
Published in:
Journal of Molecular Neuroscience, 2014, v. 53, n. 2, p. 171, doi. 10.1007/s12031-014-0265-z
By:
- Nicolas, Gaël;
- Rovelet-Lecrux, Anne;
- Pottier, Cyril;
- Martinaud, Olivier;
- Wallon, David;
- Vernier, Louis;
- Landemore, Gérard;
- Chapon, Françoise;
- Prieto-Morin, Carol;
- Tournier-Lasserve, Elisabeth;
- Frébourg, Thierry;
- Campion, Dominique;
- Hannequin, Didier
Publication type:
Article
Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes.
Published in:
PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141630
By:
- Guipponi, Michel;
- Santoni, Federico A.;
- Setola, Vincent;
- Gehrig, Corinne;
- Rotharmel, Maud;
- Cuenca, Macarena;
- Guillin, Olivier;
- Dikeos, Dimitris;
- Georgantopoulos, Georgios;
- Papadimitriou, George;
- Curtis, Logos;
- Méary, Alexandre;
- Schürhoff, Franck;
- Jamain, Stéphane;
- Avramopoulos, Dimitri;
- Leboyer, Marion;
- Rujescu, Dan;
- Pulver, Ann;
- Campion, Dominique;
- Siderovski, David P.
Publication type:
Article
Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes.
Published in:
PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112745
By:
- Guipponi, Michel;
- Santoni, Federico A.;
- Setola, Vincent;
- Gehrig, Corinne;
- Rotharmel, Maud;
- Cuenca, Macarena;
- Guillin, Olivier;
- Dikeos, Dimitris;
- Georgantopoulos, Georgios;
- Papadimitriou, George;
- Curtis, Logos;
- Méary, Alexandre;
- Schürhoff, Franck;
- Jamain, Stéphane;
- Avramopoulos, Dimitri;
- Leboyer, Marion;
- Rujescu, Dan;
- Pulver, Ann;
- Campion, Dominique;
- Siderovski, David P.
Publication type:
Article
Tau is not normally degraded by the proteasome.
Published in:
Journal of Neuroscience Research, 2005, v. 80, n. 3, p. 400, doi. 10.1002/jnr.20414
By:
- Sbastien Feuillette;
- Olivier Blard;
- Magalie Lecourtois;
- Thierry Frbourg;
- Dominique Campion;
- Ccile Dumanchin
Publication type:
Article
Identification of TCERG1 as a new genetic modulator of TDP-43 production in Drosophila.
Published in:
Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0639-5
By:
- Pons, Marine;
- Prieto, Silvia;
- Miguel, Laetitia;
- Frebourg, Thierry;
- Campion, Dominique;
- Suñé, Carles;
- Lecourtois, Magalie
Publication type:
Article
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1236, doi. 10.1038/ejhg.2014.9
By:
- Nicolas, Gaël;
- Jacquin, Agnès;
- Thauvin-Robinet, Christel;
- Rovelet-Lecrux, Anne;
- Rouaud, Olivier;
- Pottier, Cyril;
- Aubriot-Lorton, Marie-Hélène;
- Rousseau, Stéphane;
- Wallon, David;
- Duvillard, Christian;
- Béjot, Yannick;
- Frébourg, Thierry;
- Giroud, Maurice;
- Campion, Dominique;
- Hannequin, Didier
Publication type:
Article
A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 613, doi. 10.1038/ejhg.2011.225
By:
- Rovelet-Lecrux, Anne;
- Legallic, Solenn;
- Wallon, David;
- Flaman, Jean-Michel;
- Martinaud, Olivier;
- Bombois, Stéphanie;
- Rollin-Sillaire, Adeline;
- Michon, Agnès;
- Le Ber, Isabelle;
- Pariente, Jérémie;
- Puel, Michèle;
- Paquet, Claire;
- Croisile, Bernard;
- Thomas-Antérion, Catherine;
- Vercelletto, Martine;
- Lévy, Richard;
- Frébourg, Thierry;
- Hannequin, Didier;
- Campion, Dominique
Publication type:
Article
Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 7, p. 399, doi. 10.1038/sj.ejhg.5200820
By:
- Verpillat, Patrice;
- Camuzat, Agnes;
- Hannequin, Didier;
- Thomas-Anterion, Catherine;
- Puel, Michele;
- Belliard, Serge;
- Dubois, Bruno;
- Didic, Mira;
- Lacomblez, Lucette;
- Moreaud, Olivier;
- Golfier, Veronique;
- Campion, Dominique;
- Brice, Alexis;
- Clerget-Darpoux, Francoise
Publication type:
Article
Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 6, p. 464, doi. 10.1038/sj.ejhg.5200644
By:
- Verpillat, Patrice;
- Bouley, Sandrine;
- Campion, Dominique;
- Hannequin, Didier;
- Dubois, Bruno;
- Belliard, Serge;
- Puel, Michèle;
- Thomas-Antérion, Catherine;
- Agid, Yves;
- Brice, Alexis;
- Clerget-Darpoux, Françoise
Publication type:
Article
APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 9, p. 713, doi. 10.1038/sj.ejhg.5200513
By:
- Zurutuza, Laurence;
- Verpillat, Patrice;
- Raux, Gregory;
- Hannequin, Didier;
- Puel, Michèle;
- Belliard, Serge;
- Michon, Agnès;
- Pothin, Yolaine;
- Camuzat, Agnès;
- Penet, Christiane;
- Martin, Cozette;
- Brice, Alexis;
- Campion, Dominique;
- Clerget-Darpoux, Françoise;
- Frebourg, Thierry
Publication type:
Article
No evidence for involvement of KCNN3 (hSKCa3) potassium channel gene in familial and isolated cases of schizophrenia.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 2, p. 247, doi. 10.1038/sj.ejhg.5200278
By:
- Bonnet-Brilhault, Frédérique;
- Laurent, Claudine;
- Campion, Dominique;
- Thibaut, Florence;
- Lafargue, Carole;
- Charbonnier, Françoise;
- Deleuze, Jean-François;
- Ménard, Jean-François;
- Jay, Maurice;
- Petit, Michel;
- Frebourg, Thierry;
- Mallet, Jacques
Publication type:
Article
EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.
Published in:
BMC Bioinformatics, 2012, v. 13, n. Suppl 14, p. 1, doi. 10.1186/1471-2105-13-S14-S9
By:
- Coutant, Sophie;
- Cabot, Chloé;
- Lefebvre, Arnaud;
- Léonard, Martine;
- Prieur-Gaston, Elise;
- Campion, Dominique;
- Lecroq, Thierry;
- Dauchel, Hélène
Publication type:
Article
SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis.
Published in:
JAMA Neurology, 2013, v. 70, n. 11, p. 1403, doi. 10.1001/jamaneurol.2013.3849
By:
- Le Ber, Isabelle;
- Camuzat, Agnès;
- Guerreiro, Rita;
- Bouya-Ahmed, Kawtar;
- Bras, Jose;
- Nicolas, Gael;
- Gabelle, Audrey;
- Didic, Mira;
- De Septenville, Anne;
- Millecamps, Stéphanie;
- Lenglet, Timothée;
- Latouche, Morwena;
- Kabashi, Edor;
- Campion, Dominique;
- Hannequin, Didier;
- Hardy, John;
- Brice, Alexis
Publication type:
Article
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing.
Published in:
Translational Psychiatry, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41398-018-0291-7
By:
- Husson, Thomas;
- Duboc, Jean-Baptiste;
- Quenez, Olivier;
- Charbonnier, Camille;
- Rotharmel, Maud;
- Cuenca, Macarena;
- Jegouzo, Xavier;
- Richard, Anne-Claire;
- Frebourg, Thierry;
- Deleuze, Jean-François;
- Boland, Anne;
- Genin, Emmanuelle;
- Debette, Stéphanie;
- Tzourio, Christophe;
- Campion, Dominique;
- Nicolas, Gaël;
- Guillin, Olivier;
- The FREX Consortium
Publication type:
Article
A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.
Published in:
Brain: A Journal of Neurology, 2004, v. 127, n. 9, p. 1979, doi. 10.1093/brain/awh216
By:
- Isabelle Le Ber;
- Maria Martinez;
- Dominique Campion;
- Annie Laquerrière;
- Christine Bétard;
- Guillaume Bassez;
- Carol Girard;
- Pascale Saugier-Veber;
- Gregory Raux;
- Nicolas Sergeant;
- Patrick Magnier;
- Thierry Maisonobe;
- Bruno Eymard;
- Charles Duyckaerts;
- André Delacourte;
- Thierry Frebourg;
- Didier Hannequin
Publication type:
Article
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Published in:
Clinical Chemistry, 2019, v. 65, n. 9, p. 1153, doi. 10.1373/clinchem.2019.304246
By:
- Cassinari, Kévin;
- Quenez, Olivier;
- Joly-Hélas, Géraldine;
- Beaussire, Ludivine;
- Le Meur, Nathalie;
- Castelain, Mathieu;
- Goldenberg, Alice;
- Guerrot, Anne-Marie;
- Brehin, Anne-Claire;
- Deleuze, Jean-François;
- Boland, Anne;
- Rovelet-Lecrux, Anne;
- Campion, Dominique;
- Saugier-Veber, Pascale;
- Gruchy, Nicolas;
- Frebourg, Thierry;
- Nicolas, Gaël;
- Sarafan-Vasseur, Nasrin;
- Chambon, Pascal
Publication type:
Article
A diagnostic scale for Alzheimer's disease based on cerebrospinal fluid biomarker profiles.
Published in:
Alzheimer's Research & Therapy, 2014, v. 6, n. 3, p. 1, doi. 10.1186/alzrt267
By:
- Lehmann, Sylvain;
- Dumurgier, Julien;
- Schraen, Susanna;
- Wallon, David;
- Blanc, Frédéric;
- Magnin, Eloi;
- Bombois, Stéphanie;
- Bousiges, Olivier;
- Campion, Dominique;
- Cretin, Benjamin;
- Delaby, Constance;
- Hannequin, Didier;
- Jung, Barbara;
- Hugon, Jacques;
- Laplanche, Jean-Louis;
- Miguet-Alfonsi, Carole;
- Peoc'h, Katell;
- Philippi, Nathalie;
- Quillard-Muraine, Muriel;
- Sablonnière, Bernard
Publication type:
Article
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.
Published in:
Annals of Neurology, 2009, v. 65, n. 4, p. 470, doi. 10.1002/ana.21612
By:
- Benajiba, Lina;
- Le Ber, Isabelle;
- Camuzat, Agnès;
- Lacoste, Mathieu;
- Thomas-Anterion, Catherine;
- Couratier, Philippe;
- Legallic, Solenn;
- Salachas, François;
- Hannequin, Didier;
- Decousus, Marielle;
- Lacomblez, Lucette;
- Guedj, Eric;
- Golfier, Véronique;
- Camu, William;
- Dubois, Bruno;
- Campion, Dominique;
- Meininger, Vincent;
- Brice, Alexis
Publication type:
Article
Is the Saitohin gene involved in neurodegenerative diseases?
Published in:
Annals of Neurology, 2002, v. 52, n. 6, p. 829, doi. 10.1002/ana.10384
By:
- Verpillat, Patrice;
- Ricard, Sylvain;
- Hannequin, Didier;
- Dubois, Bruno;
- Bou, Jacqueline;
- Camuzat, Agnès;
- Pradier, Laurent;
- Frebourg, Thierry;
- Brice, Alexis;
- Clerget-Darpoux, Françoise;
- Deleuze, Jean-François;
- Campion, Dominique
Publication type:
Article
Drosophila models of human tauopathies indicate that Tau protein toxicity in vivo is mediated by soluble cytosolic phosphorylated forms of the protein.
Published in:
Journal of Neurochemistry, 2010, v. 113, n. 4, p. 895, doi. 10.1111/j.1471-4159.2010.06663.x
By:
- Feuillette, Sébastien;
- Miguel, Laetitia;
- Frébourg, Thierry;
- Campion, Dominique;
- Lecourtois, Magalie
Publication type:
Article
XPR1 mutations are a rare cause of primary familial brain calcification.
Published in:
Journal of Neurology, 2016, v. 263, n. 8, p. 1559, doi. 10.1007/s00415-016-8166-4
By:
- Anheim, Mathieu;
- López-Sánchez, Uriel;
- Giovannini, Donatella;
- Richard, Anne-Claire;
- Touhami, Jawida;
- N'Guyen, Ludovic;
- Rudolf, Gabrielle;
- Thibault-Stoll, Anne;
- Frebourg, Thierry;
- Hannequin, Didier;
- Campion, Dominique;
- Battini, Jean-Luc;
- Sitbon, Marc;
- Nicolas, Gaël
Publication type:
Article
Splicing factors act as genetic modulators of TDP-43 production in a new autoregulatory TDP-43 Drosophila model.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 17, p. 3396, doi. 10.1093/hmg/ddx229
By:
- Pons, Marine;
- Miguel, Laetitia;
- Miel, Camille;
- Avequin, Tracey;
- Juge, François;
- Frebourg, Thierry;
- Campion, Dominique;
- Lecourtois, Magalie
Publication type:
Article
Copy number variations involving the microtubule-associated protein tau in human diseases.
Published in:
Biochemical Society Transactions, 2012, v. 40, n. 4, p. 672, doi. 10.1042/BST20120045
By:
- Rovelet-Lecrux, Anne;
- Campion, Dominique
Publication type:
Article
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
Published in:
2020
By:
- Cassinari, Kévin;
- Rovelet‐Lecrux, Anne;
- Tury, Sandrine;
- Quenez, Olivier;
- Richard, Anne‐Claire;
- Charbonnier, Camille;
- Olaso, Robert;
- Boland, Anne;
- Deleuze, Jean‐François;
- Besancenot, Jean‐François;
- Delpont, Benoit;
- Pouliquen, Dorothée;
- Lecoquierre, François;
- Chambon, Pascal;
- Thauvin‐Robinet, Christel;
- Campion, Dominique;
- Frebourg, Thierry;
- Battini, Jean‐Luc;
- Nicolas, Gaël;
- Rovelet-Lecrux, Anne
Publication type:
journal article

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