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FUS Mutations in Frontotemporal Lobar Degeneration with Amyotrophic Lateral Sclerosis.
Published in:
Journal of Alzheimer's Disease, 2010, v. 22, n. 3, p. 765, doi. 10.3233/JAD2010100837
By:
- Broustal, Oriane;
- Camuzat, Agnès;
- Guillot-Noël, Lena;
- Guy, Nathalie;
- Millecamps, Stéphanie;
- Deffond, Didier;
- Lacomblez, Lucette;
- Golfier, Véronique;
- Hannequin, Didier;
- Salachas, François;
- Camu, William;
- Didic, Mira;
- Dubois, Bruno;
- Meininger, Vincent;
- Le Ber, Isabelle;
- Brice, Alexis
Publication type:
Article
The CALHM1 P86L Polymorphism is a Genetic Modifier of Age at Onset in Alzheimer's Disease: a Meta-Analysis Study.
Published in:
Journal of Alzheimer's Disease, 2010, v. 22, n. 1, p. 247, doi. 10.3233/JAD-2010-100933
By:
- Lambert, Jean-Charles;
- Sleegers, Kristel;
- González-Pérez, Antonio;
- Ingelsson, Martin;
- Beecham, Gary W.;
- Hiltunen, Mikko;
- Combarros, Onofre;
- Bullido, Maria J.;
- Brouwers, Nathalie;
- Bettens, Karolien;
- Berr, Claudine;
- Pasquier, Florence;
- Richard, Florence;
- DeKosky, Steven T.;
- Hannequin, Didier;
- Haines, Jonathan L.;
- Tognoni, Gloria;
- Fiévet, Nathalie;
- Dartigues, Jean-François;
- Tzourio, Christophe
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
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Published in:
2017
By:
- Coutelier, Marie;
- Coarelli, Giulia;
- Monin, Marie-Lorraine;
- Konop, Juliette;
- Davoine, Claire-Sophie;
- Tesson, Christelle;
- Valter, Rémi;
- Anheim, Mathieu;
- Behin, Anthony;
- Castelnovo, Giovanni;
- Charles, Perrine;
- David, Albert;
- Ewenczyk, Claire;
- Fradin, Mélanie;
- Goizet, Cyril;
- Hannequin, Didier;
- Labauge, Pierre;
- Riant, Florence;
- Sarda, Pierre;
- Sznajer, Yves
Publication type:
journal article
Phenotypes associated with MAPT duplications: Genetics/genetic factors of non‐Alzheimer's tauopathies.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.042008
By:
- Wallon, David;
- Bonnevalle, Antoine;
- Rovelet‐Lecrux, Anne;
- Lagarde, Julien;
- Sarazin, Marie;
- Bottlaender, Michel;
- Sellal, François;
- Jonveaux, Therese;
- Heitz, Camille;
- Magnin, Eloi;
- Ber, Isabelle Le;
- Epelbaum, Stéphane;
- Quillard‐Muraine, Muriel;
- Chastan, Mathieu;
- Hannequin, Didier;
- Boluda, Susana;
- Rousseau, Stéphane;
- Richard, Anne‐Claire;
- Quenez, Olivier;
- Charbonnier, Camille
Publication type:
Article
P4‐358: DIAGNOSTIC VALUE OF THE AMNESTIC SYNDROME FOR ALZHEIMER'S DISEASE: A CLINICOPATHOLOGICAL STUDY.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1436, doi. 10.1016/j.jalz.2019.06.4029
By:
- Bertoux, Maxime;
- Cassagnaud, Pascaline;
- Lebouvier, Thibaud;
- Sarazin, Marie;
- Le Ber, Isabelle;
- Dubois, Bruno;
- Duyckaerts, Charles;
- Auriacombe, Sophie;
- Hannequin, Didier;
- Ceccaldi, Mathieu;
- Deramecourt, Vincent;
- Pasquier, Florence
Publication type:
Article
O4‐02‐01: PHASE 2A RANDOMIZED, DOUBLE‐BLIND, PLACEBO‐CONTROLLED TRIAL OF THE HISTONE DEACETYLASE INHIBITOR (HDACI), FRM‐0334, IN ASYMPTOMATIC CARRIERS OF, OR PATIENTS WITH FRONTOTEMPORAL LOBAR DEGENERATION (FTLD) DUE TO, PROGRANULIN GENE MUTATIONS
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1231, doi. 10.1016/j.jalz.2019.06.4746
By:
- Boxer, Adam L.;
- Moebius, Hans;
- Harris, Baruch;
- Boeve, Bradley F.;
- Borroni, Barbara;
- van Swieten, John C.;
- Grossman, Murray;
- Pasquier, Florence;
- Frisoni, Giovanni B.;
- Mummery, Catherine J.;
- Vandenberghe, Rik;
- Le Ber, Isabelle;
- Hannequin, Didier;
- McGinnis, Scott M.;
- Auriacombe, Sophie;
- Onofrj, Marco;
- Goodman, Ira J.;
- Riordan, Henry J.;
- Wisniewski, Gary;
- Hesterman, Jacob
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
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
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3057, doi. 10.1002/ajmg.a.62361
By:
- Blanluet, Maud;
- Chantot‐Bastaraud, Sandra;
- Chambon, Pascal;
- Cassinari, Kévin;
- Vera, Gabriella;
- Goldenberg, Alice;
- Keren, Boris;
- Le Meur, Nathalie;
- Hannequin, Didier;
- Mace, Bertrand;
- Siffroi, Jean‐Pierre;
- Frebourg, Thierry;
- Nicolas, Gaël;
- Joly‐Helas, Géraldine
Publication type:
Article
CLINICAL IMPACT OF CEREBROSPINAL FLUID BIOMARKERS IN MILD COGNITIVE IMPAIRMENT DIAGNOSIS.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P336, doi. 10.1016/j.jalz.2017.06.060
By:
- Cognat, Emmanuel;
- Troussière, Anne-Cécile;
- Wallon, David;
- Dumurgier, Julien;
- Magnin, Eloi;
- Duron, Emmanuelle;
- Gabelle, Audrey;
- Pasquier, Florence;
- Hannequin, Didier;
- Robert, Philippe;
- Hugon, Jacques;
- Mouton-Liger, François;
- Paquet, Claire
Publication type:
Article
PREVALENCE AND CHARACTERISTICS OF PATIENTS WITH ALZHEIMER’S DISEASE ELIGIBLE FOR A DISEASE MODIFYING DRUG (PANACEA).
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P584, doi. 10.1016/j.jalz.2016.06.1146
By:
- Epelbaum, Stephane;
- Pasquier, Florence;
- Wallon, David;
- Salmon, Pierre Krolak;
- Robert, Philippe;
- Mouton, Aurelie;
- Hannequin, Didier;
- Hommet, Caroline;
- Boutoleau-Bretonnière, Claire;
- Rouaud, Olivier;
- Vercelletto, Martine;
- Benetos, Athanase;
- Rigaud, Anne-Sophie;
- Sellal, François;
- Dubois, Bruno
Publication type:
Article
Impact of cerebrospinal fluid biomarkers of alzheimer's disease in clinical practice: a multicentric study.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, p. P146, doi. 10.1016/j.jalz.2014.04.104
By:
- Mouton-Liger, François;
- Wallon, David;
- Troussière, Anne-Cécile;
- Dumurgier, Julien;
- Magnin, Eloi;
- de La Sayette, Vincent;
- Duron, Emmanuelle;
- Gabelle, Audrey;
- Philippi, Nathalie;
- Croisile, Bernard;
- Robert, Philippe H.;
- Pasquier, Florence;
- Hannequin, Didier;
- Hugon, Jacques;
- Paquet, Claire
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
Prototypical emotional Stroop effect in the onset of Alzheimer's disease
Published in:
2012
By:
- Snoussi, Molka;
- Rebaî, Mohamed;
- Hannequin, Didier;
- Simon, Thibault;
- Charvin, Heidi
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
Early diagnosis of Alzheimer's disease
Published in:
2011
By:
- Charvin, Heidi;
- Hannequin, Didier;
- Rebaî, Mohamed;
- Snoussi, Molka
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
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
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
Visual Agnosia and Posterior Cerebral Artery Infarcts: An Anatomical-Clinical Study.
Published in:
PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0030433
By:
- Martinaud, Olivier;
- Pouliquen, Dorotheé;
- Gérardin, Emmanuel;
- Loubeyre, Maud;
- Hirsbein, David;
- Hannequin, Didier;
- Cohen, Laurent
Publication type:
Article
Effect of the Histone Deacetylase Inhibitor FRM-0334 on Progranulin Levels in Patients With Progranulin Gene Haploinsufficiency: A Randomized Clinical Trial.
Published in:
JAMA Network Open, 2021, v. 4, n. 9, p. e2125584, doi. 10.1001/jamanetworkopen.2021.25584
By:
- Ljubenkov, Peter A.;
- Edwards, Lauren;
- Iaccarino, Leonardo;
- La Joie, Renaud;
- Rojas, Julio C.;
- Koestler, Mary;
- Harris, Baruch;
- Boeve, Bradley F.;
- Borroni, Barbara;
- van Swieten, John C.;
- Grossman, Murray;
- Pasquier, Florence;
- Frisoni, Giovanni B.;
- Mummery, Catherine J.;
- Vandenberghe, Rik;
- Le Ber, Isabelle;
- Hannequin, Didier;
- McGinnis, Scott M.;
- Auriacombe, Sophie;
- Onofrj, Marco
Publication type:
Article
Measurement of Voice Onset Time in Dysarthric Patients: Methodological Considerations.
Published in:
Folia Phoniatrica et Logopaedica, 2001, v. 53, n. 1, p. 48, doi. 10.1159/000052653
By:
- Özsancak, Canan;
- Auzou, Pascal;
- Jan, Mary;
- Hannequin, Didier
Publication type:
Article
Relevant Category-Specific Effect on Naming in Alzheimer’s Disease.
Published in:
Dementia & Geriatric Cognitive Disorders, 2009, v. 28, n. 5, p. 413, doi. 10.1159/000256255
By:
- Martinaud, Olivier;
- Opolczynski, Gaëlle;
- Gaillard, Marie-José;
- Hannequin, Didier
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
Can We Remember Future Actions yet Forget the Last Two Minutes? Study in Transient Global Amnesia.
Published in:
Journal of Cognitive Neuroscience, 2011, v. 23, n. 12, p. 4138, doi. 10.1162/jocn_a_00076
By:
- Hainselin, Mathieu;
- Quinette, Peggy;
- Desgranges, Béatrice;
- Martinaud, Olivier;
- Hannequin, Didier;
- de La Sayette, Vincent;
- Viader, Fausto;
- Eustache, Francis
Publication type:
Article
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Published in:
JAMA Neurology, 2018, v. 75, n. 5, p. 591, doi. 10.1001/jamaneurol.2017.5121
By:
- Coutelier, Marie;
- Hammer, Monia B.;
- Stevanin, Giovanni;
- Monin, Marie-Lorraine;
- Davoine, Claire-Sophie;
- Mochel, Fanny;
- Labauge, Pierre;
- Ewenczyk, Claire;
- Ding, Jinhui;
- Gibbs, J. Raphael;
- Hannequin, Didier;
- Melki, Judith;
- Toutain, Annick;
- Laugel, Vincent;
- Forlani, Sylvie;
- Charles, Perrine;
- Broussolle, Emmanuel;
- Thobois, Stéphane;
- Afenjar, Alexandra;
- Anheim, Mathieu
Publication type:
Article
Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years.
Published in:
JAMA Neurology, 2018, v. 75, n. 2, p. 236, doi. 10.1001/jamaneurol.2017.4266
By:
- Bertrand, Anne;
- Wen, Junhao;
- Rinaldi, Daisy;
- Houot, Marion;
- Sayah, Sabrina;
- Camuzat, Agnès;
- Fournier, Clémence;
- Fontanella, Sabrina;
- Routier, Alexandre;
- Couratier, Philippe;
- Pasquier, Florence;
- Habert, Marie-Odile;
- Hannequin, Didier;
- Martinaud, Olivier;
- Caroppo, Paola;
- Levy, Richard;
- Dubois, Bruno;
- Brice, Alexis;
- Durrleman, Stanley;
- Colliot, Olivier
Publication type:
Article
Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies A Review.
Published in:
JAMA Neurology, 2017, v. 74, n. 8, p. 1000, doi. 10.1001/jamaneurol.2017.1062
By:
- Ayrignac, Xavier;
- Nicolas, Gaël;
- Carra-Dallière, Clarisse;
- Hannequin, Didier;
- Labauge, Pierre
Publication type:
Article
Extensive White Matter Involvement in Patients With Frontotemporal Lobar Degeneration Think Progranulin.
Published in:
JAMA Neurology, 2014, v. 71, n. 12, p. 1562, doi. 10.1001/jamaneurol.2014.1316
By:
- Caroppo, Paola;
- Le Ber, Isabelle;
- Camuzat, Agnès;
- Clot, Fabienne;
- Naccache, Lionel;
- Lamari, Foudil;
- De Septenville, Anne;
- Bertrand, Anne;
- Belliard, Serge;
- Hannequin, Didier;
- Colliot, Olivier;
- Brice, Alexis
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
Genetic Analysis of Inherited Leukodystrophies Genotype-Phenotype Correlations in the CSF1R Gene.
Published in:
JAMA Neurology, 2013, v. 70, n. 7, p. 875, doi. 10.1001/jamaneurol.2013.698
By:
- Guerreiro, Rita;
- Kara, Eleanna;
- Le Ber, Isabelle;
- Bras, Jose;
- Rohrer, Jonathan D.;
- Taipa, Ricardo;
- Lashley, Tammaryn;
- Dupuits, Céline;
- Gurunlian, Nicole;
- Mochel, Fanny;
- Warren, Jason D.;
- Hannequin, Didier;
- Sedel, Frédéric;
- Depienne, Christel;
- Camuzat, Agnès;
- Golfier, Véronique;
- Du Boisguéheneuc, Foucaud;
- Schottlaender, Lucia;
- Fox, Nick C.;
- Beck, Jonathan
Publication type:
Article
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Published in:
2014
By:
- Synofzik, Matthis;
- Gonzalez, Michael A;
- Lourenco, Charles Marques;
- Coutelier, Marie;
- Haack, Tobias B;
- Rebelo, Adriana;
- Hannequin, Didier;
- Strom, Tim M;
- Prokisch, Holger;
- Kernstock, Christoph;
- Durr, Alexandra;
- Schöls, Ludger;
- Lima-Martínez, Marcos M;
- Farooq, Amjad;
- Schüle, Rebecca;
- Stevanin, Giovanni;
- Marques Jr, Wilson;
- Züchner, Stephan;
- Marques, Wilson Jr
Publication type:
journal article
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 69, doi. 10.1093/brain/awt326
By:
- Synofzik, Matthis;
- Gonzalez, Michael A.;
- Lourenco, Charles Marques;
- Coutelier, Marie;
- Haack, Tobias B.;
- Rebelo, Adriana;
- Hannequin, Didier;
- Strom, Tim M.;
- Prokisch, Holger;
- Kernstock, Christoph;
- Durr, Alexandra;
- Schöls, Ludger;
- Lima-Martínez, Marcos M.;
- Farooq, Amjad;
- Schüle, Rebecca;
- Stevanin, Giovanni;
- Marques, Wilson;
- Züchner, Stephan
Publication type:
Article
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
Published in:
Brain: A Journal of Neurology, 2008, v. 131, n. 5, p. 1352, doi. 10.1093/brain/awn059
By:
- Sophie Tezenas du Montcel;
- Perrine Charles;
- Pascale Ribai;
- Cyril Goizet;
- Alice Le Bayon;
- Pierre Labauge;
- Lucie Guyant-Maréchal;
- Sylvie Forlani;
- Celine Jauffret;
- Nadia Vandenberghe;
- Karine NGuyen;
- Isabelle Le Ber;
- David Devos;
- Carlo-Maria Vincitorio;
- Mario-Ubaldo Manto;
- François Tison;
- Didier Hannequin;
- Merle Ruberg;
- Alexis Brice;
- Alexandra Durr
Publication type:
Article
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Published in:
Brain: A Journal of Neurology, 2008, v. 131, n. 3, p. 772, doi. 10.1093/brain/awm293
By:
- Giovanni Stevanin;
- Hamid Azzedine;
- Paola Denora;
- Amir Boukhris;
- Meriem Tazir;
- Alexander Lossos;
- Alberto Luis Rosa;
- Israela Lerer;
- Abdelmadjid Hamri;
- Paulo Alegria;
- José Loureiro;
- Masayoshi Tada;
- Didier Hannequin;
- Mathieu Anheim;
- Cyril Goizet;
- Victoria Gonzalez-Martinez;
- Isabelle Le Ber;
- Sylvie Forlani;
- Kiyoshi Iwabuchi;
- Vardiela Meiner
Publication type:
Article
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.
Published in:
Brain: A Journal of Neurology, 2008, v. 131, n. 3, p. 732, doi. 10.1093/brain/awn012
By:
- Isabelle Le Ber;
- Agnès Camuzat;
- Didier Hannequin;
- Florence Pasquier;
- Eric Guedj;
- Anne Rovelet-Lecrux;
- Valérie Hahn-Barma;
- Julie van der Zee;
- Fabienne Clot;
- Serge Bakchine;
- Michèle Puel;
- Mustapha Ghanim;
- Lucette Lacomblez;
- Jacqueline Mikol;
- Vincent Deramecourt;
- Pascal Lejeune;
- Vincent de la Sayette;
- Serge Belliard;
- Martine Vercelletto;
- Christian Meyrignac
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
Dissociating atrophy and hypometabolism impact on episodic memory in mild cognitive impairment.
Published in:
Brain: A Journal of Neurology, 2003, v. 126, n. 9, p. 1955, doi. 10.1093/brain/awg196
By:
- Gaël Chételat;
- Béatrice Desgranges;
- Vincent de la Sayette;
- Fausto Viader;
- Karim Berkouk;
- Brigitte Landeau;
- Catherine Lalevée;
- François Le Doze;
- Benoît Dupuy;
- Didier Hannequin;
- Jean‐Claude Baron;
- Francis Eustache
Publication type:
Article
Utility of CSF biomarkers in psychiatric disorders: a national multicentre prospective study.
Published in:
Alzheimer's Research & Therapy, 2016, v. 8, p. 1, doi. 10.1186/s13195-016-0192-z
By:
- Paquet, Claire;
- Magnin, Eloi;
- Wallon, David;
- Troussière, Anne-Cécile;
- Dumurgier, Julien;
- Jager, Alain;
- Bellivier, Frank;
- Bouaziz-Amar, Elodie;
- Blanc, Frédéric;
- Beaufils, Emilie;
- Miguet-Alfonsi, Carole;
- Quillard, Muriel;
- Schraen, Susanna;
- Pasquier, Florence;
- Hannequin, Didier;
- Robert, Philippe;
- Hugon, Jacques;
- Mouton-Liger, François
Publication type:
Article

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