Found: 36

Select item for more details and to access through your institution.

  • Spinocerebellar ataxia type 10 in the French population.

    Published in:
    2002
    By:
    • Fujigasaki, Hiroto;
    • Tardieu, Sandrine;
    • Camuzat, Agnès;
    • Stevanin, Giovanni;
    • LeGuern, Eric;
    • Matsuura, Tohru;
    • Ashizawa, Tetsuo;
    • Dürr, Alexandra;
    • Brice, Alexis;
    • Camuzat, Agnès;
    • Dürr, Alexandra
    Publication type:
    commentary

  • 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

  • SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

    Published in:
    Brain: A Journal of Neurology, 2021, v. 144, n. 9, p. 2798, doi. 10.1093/brain/awab171
    By:
    • Barbier, Mathieu;
    • Camuzat, Agnès;
    • Hachimi, Khalid El;
    • Guegan, Justine;
    • Rinaldi, Daisy;
    • Lattante, Serena;
    • Houot, Marion;
    • Sánchez-Valle, Raquel;
    • Sabatelli, Mario;
    • Antonell, Anna;
    • Molina-Porcel, Laura;
    • Clot, Fabienne;
    • Couratier, Philippe;
    • van der Ende, Emma;
    • van der Zee, Julie;
    • Manzoni, Claudia;
    • Camu, William;
    • Cazeneuve, Cécile;
    • Sellal, François;
    • Didic, Mira
    Publication type:
    Article

  • Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

    Published in:
    Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 303, doi. 10.1093/brain/awz377
    By:
    • Huin, Vincent;
    • Barbier, Mathieu;
    • Bottani, Armand;
    • Lobrinus, Johannes Alexander;
    • Clot, Fabienne;
    • Lamari, Foudil;
    • Chat, Laureen;
    • Rucheton, Benoît;
    • Fluchère, Frédérique;
    • Auvin, Stéphane;
    • Myers, Peter;
    • Gelot, Antoinette;
    • Camuzat, Agnès;
    • Caillaud, Catherine;
    • Jornéa, Ludmila;
    • Forlani, Sylvie;
    • Saracino, Dario;
    • Duyckaerts, Charles;
    • Brice, Alexis;
    • Durr, Alexandra
    Publication type:
    Article

  • Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

    Published in:
    2019
    By:
    • Huin, Vincent;
    • Barbier, Mathieu;
    • Bottani, Armand;
    • Lobrinus, Johannes Alexander;
    • Clot, Fabienne;
    • Lamari, Foudil;
    • Chat, Laureen;
    • Rucheton, Benoît;
    • Fluchère, Frédérique;
    • Auvin, Stéphane;
    • Myers, Peter;
    • Gelot, Antoinette;
    • Camuzat, Agnès;
    • Caillaud, Catherine;
    • Jornéa, Ludmila;
    • Forlani, Sylvie;
    • Saracino, Dario;
    • Duyckaerts, Charles;
    • Brice, Alexis;
    • Durr, Alexandra
    Publication type:
    journal article

  • FRONTOTEMPORAL LOBAR DEGENERATIONS, RNAOPATHY LEADING TO PROTEINOPATHIES.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1301, doi. 10.1016/j.jalz.2017.06.1982
    By:
    • Anquetil, Vincent;
    • Bertrand, Anne;
    • Camuzat, Agnès;
    • Grange, Pierre de la;
    • Fournier, Clémence;
    • Buée-Scherrer, Valérie;
    • Deramecourt, Vincent;
    • Sergeant, Nicolas;
    • Barbier, Mathieu;
    • Buee, Luc;
    • Brice, Alexis;
    • Duyckaerts, Charles;
    • Le Ber, Isabelle
    Publication type:
    Article

  • ACCELERATED SUBCORTICAL ATROPHY DURING AGING IN PRESYMPTOMATIC CARRIERS OF C9ORF72 MUTATION.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1096, doi. 10.1016/j.jalz.2017.06.1580
    By:
    • Bertrand, Anne;
    • Wen, Junhao;
    • Rinaldi, Daisy;
    • Camuzat, Agnès;
    • Fontanella, Sabrina;
    • Routier, Alexandre;
    • Couratier, Philippe;
    • Pasquier, Florence;
    • Martinaud, Olivier;
    • Durrleman, Stanley;
    • Brice, Alexis;
    • Colliot, Olivier;
    • Le Ber, Isabelle
    Publication type:
    Article

  • ACCELERATED SUBCORTICAL ATROPHY DURING AGING IN PRESYMPTOMATIC CARRIERS OF C9ORF72 MUTATION.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P95, doi. 10.1016/j.jalz.2017.06.2400
    By:
    • Bertrand, Anne;
    • Wen, Junhao;
    • Rinaldi, Daisy;
    • Camuzat, Agnès;
    • Fontanella, Sabrina;
    • Routier, Alexandre;
    • Couratier, Philippe;
    • Pasquier, Florence;
    • Martinaud, Olivier;
    • Durrleman, Stanley;
    • Brice, Alexis;
    • Colliot, Olivier;
    • Le Ber, Isabelle
    Publication type:
    Article

  • Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation.

    Published in:
    Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0345-0
    By:
    • Papegaey, Anthony;
    • Eddarkaoui, Sabiha;
    • Deramecourt, Vincent;
    • Fernandez-Gomez, Francisco-Jose;
    • Pantano, Pierre;
    • Obriot, Hélène;
    • Machala, Camille;
    • Anquetil, Vincent;
    • Camuzat, Agnès;
    • Brice, Alexis;
    • Maurage, Claude-Alain;
    • Ber, Isabelle Le;
    • Duyckaerts, Charles;
    • Buée, Luc;
    • Sergeant, Nicolas;
    • Buée-Scherrer, Valérie
    Publication type:
    Article

  • Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy.

    Published in:
    PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0007114
    By:
    • Al-Chalabi, Ammar;
    • Dürr, Alexandra;
    • Wood, Nicholas W.;
    • Parkinson, Michael H.;
    • Camuzat, Agnes;
    • Hulot, Jean-Sébastien;
    • Morrison, Karen E.;
    • Renton, Alan;
    • Sussmuth, Sigurd D.;
    • Landwehrmeyer, Bernhard G.;
    • Ludolph, Albert;
    • Agid, Yves;
    • Brice, Alexis;
    • Nigel Leigh, P.;
    • Bensimon, Gilbert
    Publication type:
    Article

  • Interrupted CAG expansions in <italic>ATXN2</italic> gene expand the genetic spectrum of frontotemporal dementias.

    Published in:
    2018
    By:
    • Fournier, Clémence;
    • Anquetil, Vincent;
    • Camuzat, Agnès;
    • Stirati-Buron, Sandrine;
    • Sazdovitch, Véronique;
    • Molina-Porcel, Laura;
    • Turbant, Sabrina;
    • Rinaldi, Daisy;
    • Sánchez-Valle, Raquel;
    • Barbier, Mathieu;
    • Latouche, Morwena;
    • Neuro-CEB Neuropathology Network;
    • Stevanin, Giovanni;
    • Seilhean, Danielle;
    • Brice, Alexis;
    • Duyckaerts, Charles;
    • Le Ber, Isabelle
    Publication type:
    Letter

  • 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

  • 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

  • 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

  • Posterior Cortical Atrophy as an Extreme Phenotype of GRN Mutations.

    Published in:
    JAMA Neurology, 2015, v. 72, n. 2, p. 224, doi. 10.1001/jamaneurol.2014.3308
    By:
    • Caroppo, Paola;
    • Belin, Catherine;
    • Grabli, David;
    • Maillet, Didier;
    • De Septenville, Anne;
    • Migliaccio, Raffaella;
    • Clot, Fabienne;
    • Lamari, Foudil;
    • Camuzat, Agnès;
    • Brice, Alexis;
    • Dubois, Bruno;
    • Le Ber, Isabelle
    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

  • DCTN1 Mutation Analysis in Families With Progressive Supranuclear Palsy-Like Phenotypes.

    Published in:
    JAMA Neurology, 2014, v. 71, n. 2, p. 208, doi. 10.1001/jamaneurol.2013.5100
    By:
    • Caroppo, Paola;
    • Le Ber, Isabelle;
    • Clot, Fabienne;
    • Rivaud-Péchoux, Sophie;
    • Camuzat, Agnès;
    • De Septenville, Anne;
    • Boutoleau-Bretonnière, Claire;
    • Mourlon, Vanessa;
    • Sauvée, Mathilde;
    • Lebouvier, Thibaud;
    • Bonnet, Anne-Marie;
    • Levy, Richard;
    • Vercelletto, Martine;
    • 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

  • 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

  • Guadeloupean parkinsonism: a cluster of progressive supranuclear palsy‐like tauopathy.

    Published in:
    Brain: A Journal of Neurology, 2002, v. 125, n. 4, p. 801
    By:
    • Caparros‐Lefebvre, Dominique;
    • Sergeant, Nicolas;
    • Lees, Andrew;
    • Camuzat, Agnes;
    • Daniel, Susan;
    • Lannuzel, Annie;
    • Brice, Alexis;
    • Tolosa, Eduardo;
    • Delacourte, Andre;
    • Duyckaerts, Charles
    Publication type:
    Article

  • MicroRNA signatures in genetic frontotemporal dementia and amyotrophic lateral sclerosis.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 11, p. 1778, doi. 10.1002/acn3.51674
    By:
    • Kmetzsch, Virgilio;
    • Latouche, Morwena;
    • Saracino, Dario;
    • Rinaldi, Daisy;
    • Camuzat, Agnès;
    • Gareau, Thomas;
    • Le Ber, Isabelle;
    • Colliot, Olivier;
    • Becker, Emmanuelle
    Publication type:
    Article

  • Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study.

    Published in:
    2019
    By:
    • Querin, Giorgia;
    • Bede, Peter;
    • El Mendili, Mohamed Mounir;
    • Li, Menghan;
    • Pélégrini‐Issac, Mélanie;
    • Rinaldi, Daisy;
    • Catala, Martin;
    • Saracino, Dario;
    • Salachas, François;
    • Camuzat, Agnes;
    • Marchand‐Pauvert, Véronique;
    • Cohen‐Adad, Julien;
    • Colliot, Olivier;
    • Le Ber, Isabelle;
    • Pradat, Pierre‐François;
    • Pélégrini-Issac, Mélanie;
    • Marchand-Pauvert, Véronique;
    • Cohen-Adad, Julien;
    • Pradat, Pierre-François;
    • Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Study Group
    Publication type:
    journal 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

  • Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch–French cohort.

    Published in:
    Annals of Neurology, 2005, v. 57, n. 4, p. 505
    By:
    • Bart P. C. van de Warrenburg;
    • Harrie Hendriks;
    • Alexandra Dürr;
    • Martin C. A. van Zuijlen;
    • Giovanni Stevanin;
    • Agnès Camuzat;
    • Richard J. Sinke;
    • Alexis Brice;
    • Berry P. H. Kremer
    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

  • New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers.

    Published in:
    Frontiers in Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnins.2018.00589
    By:
    • Viodé, Arthur;
    • Fournier, Clémence;
    • Camuzat, Agnès;
    • Fenaille, François;
    • Latouche, Morwena;
    • Elahi, Fanny;
    • Ber, Isabelle Le;
    • Junot, Christophe;
    • Lamari, Foudil;
    • Anquetil, Vincent;
    • Becher, François;
    • Letournel, Franck;
    • Vital, Anne;
    • Chapon, Françoise;
    • Godfraind, Catherine;
    • Maurage, Claude-Alain;
    • Deramecourt, Vincent;
    • Meyronnet, David;
    • Streichenberger, Nathalie;
    • Maues de Paula, André
    Publication type:
    Article

  • Progranulin null mutations in both sporadic and familial frontotemporal dementia.

    Published in:
    Human Mutation, 2007, v. 28, n. 9, p. 846, doi. 10.1002/humu.20520
    By:
    • Le Ber, Isabelle;
    • van der Zee, Julie;
    • Hannequin, Didier;
    • Gijselinck, Ilse;
    • Campion, Dominique;
    • Puel, Michèle;
    • Laquerrière, Annie;
    • De Pooter, Tim;
    • Camuzat, Agnès;
    • Van den Broeck, Marleen;
    • Dubois, Bruno;
    • Sellal, François;
    • Lacomblez, Lucette;
    • Vercelletto, Martine;
    • Thomas-Antérion, Catherine;
    • Michel, Bernard-François;
    • Golfier, Véronique;
    • Didic, Mira;
    • Salachas, François;
    • Duyckaerts, Charles
    Publication type:
    Article

  • Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

    Published in:
    Human Mutation, 2007, v. 28, n. 4, p. 416, doi. 10.1002/humu.9484
    By:
    • van der Zee, Julie;
    • Le Ber, Isabelle;
    • Maurer-Stroh, Sebastian;
    • Engelborghs, Sebastiaan;
    • Gijselinck, Ilse;
    • Camuzat, Agnès;
    • Brouwers, Nathalie;
    • Vandenberghe, Rik;
    • Sleegers, Kristel;
    • Hannequin, Didier;
    • Dermaut, Bart;
    • Schymkowitz, Joost;
    • Campion, Dominique;
    • Santens, Patrick;
    • Martin, Jean-Jacques;
    • Lacomblez, Lucette;
    • De Pooter, Tim;
    • Peeters, Karin;
    • Mattheijssens, Maria;
    • Vercelletto, Martine
    Publication type:
    Article

  • SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family.

    Published in:
    Annals of Neurology, 2001, v. 49, n. 1, p. 117, doi. 10.1002/1531-8249(200101)49:1&lt;117::AID-ANA19&gt;3.0.CO;2-G
    By:
    • Fujigasaki, Hiroto;
    • Verma, Ishwar C.;
    • Camuzat, Agnès;
    • Margolis, Russell L.;
    • Zander, Cecilia;
    • Lebre, Anne-Sophie;
    • Jamot, Laure;
    • Saxena, Renu;
    • Anand, Ish;
    • Holmes, Susan E.;
    • Ross, Christopher A.;
    • Dürr, Alexandra;
    • Brice, Alexis
    Publication type:
    Article

  • Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.

    Published in:
    Neurogenetics, 2014, v. 15, n. 2, p. 95, doi. 10.1007/s10048-014-0389-x
    By:
    • Clot, Fabienne;
    • Rovelet-Lecrux, Anne;
    • Lamari, Foudil;
    • Noël, Sandrine;
    • Keren, Boris;
    • Camuzat, Agnès;
    • Michon, Agnès;
    • Jornea, Ludmila;
    • Laudier, Béatrice;
    • Septenville, Anne;
    • Caroppo, Paola;
    • Campion, Dominique;
    • Cazeneuve, Cécile;
    • Brice, Alexis;
    • LeGuern, Eric;
    • Le Ber, Isabelle
    Publication type:
    Article

  • Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.

    Published in:
    2011
    By:
    • Clot, Fabienne;
    • Grabli, David;
    • Burbaud, Pierre;
    • Aya, Magali;
    • Derkinderen, Pascal;
    • Defebvre, Luc;
    • Damier, Philippe;
    • Krystkowiak, Pierre;
    • Pollak, Pierre;
    • Leguern, Eric;
    • San, Chan;
    • Camuzat, Agnès;
    • Roze, Emmanuel;
    • Vidailhet, Marie;
    • Durr, Alexandra;
    • Brice, Alexis
    Publication type:
    Letter

  • G303V tau mutation presenting with progressive supranuclear palsy-like features.

    Published in:
    Movement Disorders, 2012, v. 27, n. 4, p. 581, doi. 10.1002/mds.24060
    By:
    • Choumert, Ariane;
    • Poisson, Alice;
    • Honnorat, Jérôme;
    • Le Ber, Isabelle;
    • Camuzat, Agnes;
    • Broussolle, Emmanuel;
    • Thobois, Stéphane
    Publication type:
    Article

  • The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism.

    Published in:
    Movement Disorders, 2008, v. 23, n. 16, p. 2384, doi. 10.1002/mds.22297
    By:
    • Camuzat, Agnès;
    • Romana, Marc;
    • Dürr, Alexandra;
    • Feingold, Josué;
    • Brice, Alexis;
    • Ruberg, Merle;
    • Lannuzel, Annie
    Publication type:
    Article

  • Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

    Published in:
    Human Molecular Genetics, 1998, v. 7, n. 11, p. 1825, doi. 10.1093/hmg/7.11.1825
    By:
    • Dumanchin, Cécile;
    • Camuzat, Agnès;
    • Campion, Dominique;
    • Verpillat, Patrice;
    • Hannequin, Didier;
    • Dubois, Bruno;
    • Saugier‐Veber, Pascale;
    • Martin, Cosette;
    • Penet, Christiane;
    • Charbonnier, Françoise;
    • Agid, Yves;
    • Frebourg, Thierry;
    • Brice, Alexis
    Publication type:
    Article

  • A gene for Leber's congenital amaurosis maps to chromosome 17p.

    Published in:
    Human Molecular Genetics, 1995, v. 4, n. 8, p. 1447
    By:
    • Camuzat, Agnès;
    • Dollfus, Hélène;
    • Rozet, Jean-Michel;
    • Gerber, Sylvie;
    • Bonneau, Dominique;
    • Bonnemaison, Michèle;
    • Briard, Marie-Louise;
    • Dufier, Jean-Louis;
    • Ghazi, Imad;
    • Leowski, Corinne;
    • Weissenbach, Jean;
    • Frezal, Jean;
    • Munnich, Arnold;
    • Kaplan, Josseline
    Publication type:
    Article