Works by Fontaine, Bertrand

Results: 66
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    A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.

    Published in:
    2020
    By:
    • Atalaia, Antonio;
    • Thompson, Rachel;
    • Corvo, Alberto;
    • Carmody, Leigh;
    • Piscia, Davide;
    • Matalonga, Leslie;
    • Macaya, Alfons;
    • Lochmuller, Angela;
    • Fontaine, Bertrand;
    • Zurek, Birte;
    • Hernandez-Ferrer, Carles;
    • Rheinard, Carola;
    • Gómez-Andrés, David;
    • Desaphy, Jean-François;
    • Schon, Katherine;
    • Lohmann, Katja;
    • Jennings, Matthew J.;
    • Synofzik, Matthis;
    • Riess, Olaf;
    • Yaou, Rabah Ben
    Publication type:
    journal article
    3

    The multiple faces of the ATP1A3-related dystonic movement disorder.

    Published in:
    Movement Disorders, 2013, v. 28, n. 10, p. 1457, doi. 10.1002/mds.25396
    By:
    • Roubergue, Anne;
    • Roze, Emmanuel;
    • Vuillaumier‐Barrot, Sandrine;
    • Fontenille, Marie‐Joséphine;
    • Méneret, Aurélie;
    • Vidailhet, Marie;
    • Fontaine, Bertrand;
    • Doummar, Diane;
    • Philibert, Bertrand;
    • Riant, Florence;
    • Nicole, Sophie
    Publication type:
    Article
    4

    The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis.

    Published in:
    Cells (2073-4409), 2020, v. 9, n. 1, p. 1, doi. 10.3390/cells9010175
    By:
    • Gómez-Fernández, Paloma;
    • de Lapuente Portilla, Aitzkoa Lopez;
    • Astobiza, Ianire;
    • Mena, Jorge;
    • Urtasun, Andoni;
    • Altmann, Vivian;
    • Matesanz, Fuencisla;
    • Otaegui, David;
    • Urcelay, Elena;
    • Antigüedad, Alfredo;
    • Malhotra, Sunny;
    • Montalban, Xavier;
    • Castillo-Triviño, Tamara;
    • Espino-Paisán, Laura;
    • Aktas, Orhan;
    • Buttmann, Mathias;
    • Chan, Andrew;
    • Fontaine, Bertrand;
    • Gourraud, Pierre-Antoine;
    • Hecker, Michael
    Publication type:
    Article
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    De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

    Published in:
    Nature Genetics, 2012, v. 44, n. 9, p. 1030, doi. 10.1038/ng.2358
    By:
    • Heinzen, Erin L;
    • Swoboda, Kathryn J;
    • Hitomi, Yuki;
    • Gurrieri, Fiorella;
    • Nicole, Sophie;
    • de Vries, Boukje;
    • Tiziano, F Danilo;
    • Fontaine, Bertrand;
    • Walley, Nicole M;
    • Heavin, Sinéad;
    • Panagiotakaki, Eleni;
    • Neri, Giovanni;
    • Koelewijn, Stephany;
    • Kamphorst, Jessica;
    • Geilenkirchen, Marije;
    • Pelzer, Nadine;
    • Laan, Laura;
    • Haan, Joost;
    • Ferrari, Michel;
    • van den Maagdenberg, Arn
    Publication type:
    Article
    8

    Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis.

    Published in:
    2010
    By:
    • Booth, David R.;
    • Heard, Robert N.;
    • Stewart, Graeme J.;
    • Cox, Mathew;
    • Scott, Rodney J.;
    • Lechner-Scott, Jeannette;
    • Goris, An;
    • Dobosi, Rita;
    • Dubois, Bénédicte;
    • Saarela, Janna;
    • Leppä, Virpi;
    • Peltonen, Leena;
    • Pirttila, Tuula;
    • Cournu-Rebeix, Isabelle;
    • Fontaine, Bertrand;
    • Bergamaschi, Laura;
    • D'Alfonso, Sandra;
    • Leone, Maurizio;
    • Lorentzen, Åslaug R;
    • Harbo, Hanne F.
    Publication type:
    Letter
    9

    Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

    Published in:
    Nature Genetics, 2000, v. 26, n. 4, p. 480, doi. 10.1038/82638
    By:
    • Nicole, Sophie;
    • Davoine, Claire-Sophie;
    • Topaloglu, Haluk;
    • Cattolico, Laurence;
    • Barral, Duarte;
    • Beighton, Peter;
    • Hamida, Christiane Ben;
    • Hammouda, Hadi;
    • Cruaud, Corinne;
    • White, Peter S.;
    • Samson, Delphine;
    • Urtizberea, J. Andoni;
    • Lehmann-Horn, Franck;
    • Weissenbach, Jean;
    • Hentati, Faycal;
    • Fontaine, Bertrand
    Publication type:
    Article
    10

    Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

    Published in:
    Nature Genetics, 1999, v. 23, n. 3, p. 296, doi. 10.1038/15472
    By:
    • Hazan, Jamilé;
    • Fonknechten, Nùria;
    • Mavel, Delphine;
    • Paternotte, Caroline;
    • Samson, Delphine;
    • Artiguenave, François;
    • Davoine, Claire-Sophie;
    • Cruaud, Corinne;
    • Dürr, Alexandra;
    • Wincker, Patrick;
    • Brottier, Philippe;
    • Cattolico, Laurence;
    • Barbe, Valérie;
    • Burgunder, Jean-Marc;
    • Prud'homme, Jean-François;
    • Brice, Alexis;
    • Fontaine, Bertrand;
    • Heilig, Roland;
    • Weissenbach, Jean
    Publication type:
    Article
    11

    Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

    Published in:
    G3: Genes | Genomes | Genetics, 2016, v. 6, n. 7, p. 2073, doi. 10.1534/g3.116.030841
    By:
    • Sadovnick, A. Dessa;
    • Traboulsee, Anthony L.;
    • Bernales, Cecily Q.;
    • Ross, Jay P.;
    • Forwell, Amanda L.;
    • Yee, Irene M.;
    • Guillot-Noel, Lena;
    • Fontaine, Bertrand;
    • Cournu-Rebeix, Isabelle;
    • Alcina, Antonio;
    • Fedetz, Maria;
    • Izquierdo, Guillermo;
    • Matesanz, Fuencisla;
    • Hilven, Kelly;
    • Dubois, Bénédicte;
    • Goris, An;
    • Astobiza, Ianire;
    • Alloza, Iraide;
    • Antigüedad, Alfredo;
    • Vandenbroeck, Koen
    Publication type:
    Article
    12

    COMT Val<sup>158</sup>Met Polymorphism Modulates Huntington's Disease Progression.

    Published in:
    PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0161106
    By:
    • de Diego-Balaguer, Ruth;
    • Schramm, Catherine;
    • Rebeix, Isabelle;
    • Dupoux, Emmanuel;
    • Durr, Alexandra;
    • Brice, Alexis;
    • Charles, Perrine;
    • Cleret de Langavant, Laurent;
    • Youssov, Katia;
    • Verny, Christophe;
    • Damotte, Vincent;
    • Azulay, Jean-Philippe;
    • Goizet, Cyril;
    • Simonin, Clémence;
    • Tranchant, Christine;
    • Maison, Patrick;
    • Rialland, Amandine;
    • Schmitz, David;
    • Jacquemot, Charlotte;
    • Fontaine, Bertrand
    Publication type:
    Article
    13

    Guidelines on clinical presentation and management of nondystrophic myotonias.

    Published in:
    2020
    By:
    • Stunnenberg, Bas C.;
    • LoRusso, Samantha;
    • Arnold, W. David;
    • Barohn, Richard J.;
    • Cannon, Stephen C.;
    • Fontaine, Bertrand;
    • Griggs, Robert C.;
    • Hanna, Michael G.;
    • Matthews, Emma;
    • Meola, Giovanni;
    • Sansone, Valeria A.;
    • Trivedi, Jaya R.;
    • van Engelen, Baziel G.M.;
    • Vicart, Savine;
    • Statland, Jeffrey M.
    Publication type:
    journal article
    14

    Review of the Diagnosis and Treatment of Periodic Paralysis.

    Published in:
    2018
    By:
    • Statland, Jeffrey M.;
    • Fontaine, Bertrand;
    • Hanna, Michael G.;
    • Johnson, Nicholas E.;
    • Kissel, John T.;
    • Sansone, Valeria A.;
    • Shieh, Perry B.;
    • Tawil, Rabi N.;
    • Trivedi, Jaya;
    • Cannon, Stephen C.;
    • Griggs, Robert C.
    Publication type:
    journal article
    15

    Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

    Published in:
    Nature Genetics, 2013, v. 45, n. 11, p. 1353, doi. 10.1038/ng.2770
    By:
    • Beecham, Ashley H;
    • Patsopoulos, Nikolaos A;
    • Xifara, Dionysia K;
    • Davis, Mary F;
    • Kemppinen, Anu;
    • Cotsapas, Chris;
    • Shah, Tejas S;
    • Spencer, Chris;
    • Booth, David;
    • Goris, An;
    • Oturai, Annette;
    • Saarela, Janna;
    • Fontaine, Bertrand;
    • Hemmer, Bernhard;
    • Martin, Claes;
    • Zipp, Frauke;
    • D'Alfonso, Sandra;
    • Martinelli-Boneschi, Filippo;
    • Taylor, Bruce;
    • Harbo, Hanne F
    Publication type:
    Article
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    Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia.

    Published in:
    Human Molecular Genetics, 2008, v. 17, n. 20, p. 3166, doi. 10.1093/hmg/ddn213
    By:
    • Stum, Morgane;
    • Girard, Emmanuelle;
    • Bangratz, Marie;
    • Bernard, Véronique;
    • Herbin, Marc;
    • Vignaud, Alban;
    • Ferry, Arnaud;
    • Davoine, Claire-Sophie;
    • Echaniz-Laguna, Andoni;
    • René, Frédérique;
    • Marcel, Christophe;
    • Molgó, Jordi;
    • Fontaine, Bertrand;
    • Krejci, Eric;
    • Nicole, Sophie
    Publication type:
    Article
    22

    Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

    Published in:
    Human Molecular Genetics, 2005, v. 14, n. 3, p. 461, doi. 10.1093/hmg/ddi044
    By:
    • Fonknechten, Nùria;
    • Mavel, Delphine;
    • Byrne, Paula;
    • Davoine, Claire-Sophie;
    • Cruaud, Corinne;
    • Bönsch, Dominikus;
    • Samson, Delphine;
    • Coutinho, Paula;
    • Hutchinson, Michael;
    • McMonagle, Paul;
    • Burgunder, Jean-Marc;
    • Tartaglione, Antonio;
    • Heinzlef, Olivier;
    • Feki, Imed;
    • Deufel, Thomas;
    • Parfrey, Nollaig;
    • Brice, Alexis;
    • Fontaine, Bertrand;
    • Prud'homme, Jean-François;
    • Weissenbach, Jean
    Publication type:
    Article
    23

    Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

    Published in:
    Human Molecular Genetics, 2000, v. 9, n. 4, p. 637, doi. 10.1093/hmg/9.4.637
    By:
    • Fonknechten, Nùria;
    • Mavel, Delphine;
    • Byrne, Paula;
    • Davoine, Claire-Sophie;
    • Cruaud, Corinne;
    • Boentsch, Dominikus;
    • Samson, Delphine;
    • Coutinho, Paula;
    • Hutchinson, Michael;
    • Monagle, Paul Mc;
    • Burgunder, Jean-Marc;
    • Tartaglione, Antonio;
    • Heinzlef, Olivier;
    • Feki, Imed;
    • Deufel, Thomas;
    • Parfrey, Nollaig;
    • Brice, Alexis;
    • Fontaine, Bertrand;
    • Prud’homme, Jean-François;
    • Wiessenbach, Jean
    Publication type:
    Article
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    Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.

    Published in:
    Human Molecular Genetics, 1994, v. 3, n. 9, p. 1569
    By:
    • Hazan, Jamilé;
    • Fontaine, Bertrand;
    • Bruyn, Richard P.M.;
    • Lamy, Catherine;
    • van Deutekom, Judith C.T.;
    • Rime, Clalre-Sophie;
    • Dürr, Alexandra;
    • Melkl, Judith;
    • Lyon-Caen, Olivier;
    • Agid, Yves;
    • Munnich, Arnold;
    • Padberg, George W.;
    • de Recondo, Jean;
    • Frants, Rune R.;
    • Brice, Alexis;
    • Welssenbach, Jean
    Publication type:
    Article
    27

    A calcium channel mutation causing hypokalemic periodic paralysis.

    Published in:
    Human Molecular Genetics, 1994, v. 3, n. 8, p. 1415
    By:
    • Jurkat-Rott, Karln;
    • Lehmann-Horn, Frank;
    • Elbaz, Alexis;
    • Heine, Roland;
    • Gregg, Ronald G.;
    • Hogan, Kirk;
    • Powers, Patricia A.;
    • Laple, Pascale;
    • Vale-Santos, José E.;
    • Weissenbach, Jean;
    • Fontaine, Bertrand
    Publication type:
    Article
    28

    Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome.

    Published in:
    European Journal of Neurology, 2022, v. 29, n. 8, p. 2398, doi. 10.1111/ene.15369
    By:
    • Villar‐Quiles, Rocio Nur;
    • Sternberg, Damien;
    • Tredez, Grégoire;
    • Beatriz Romero, Norma;
    • Evangelista, Teresinha;
    • Lafôret, Pascal;
    • Cintas, Pascal;
    • Sole, Guilhem;
    • Sacconi, Sabrina;
    • Bendahhou, Said;
    • Franques, Jérôme;
    • Cances, Claude;
    • Noury, JB;
    • Delmont, Emilien;
    • Blondy, Patricia;
    • Perrin, Laurence;
    • Hezode, Marianne;
    • Fournier, Emmanuel;
    • Fontaine, Bertrand;
    • Stojkovic, Tanya
    Publication type:
    Article
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    Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study.

    Published in:
    Neurogenetics, 2004, v. 5, n. 1, p. 45, doi. 10.1007/s10048-003-0163-y
    By:
    • Pericak-Vance, Margaret A.;
    • Rimmler, Jackie B.;
    • Haines, Jonathan L.;
    • Garcia, Melissa E.;
    • Oksenberg, Jorge R.;
    • Barcellos, Lisa F.;
    • Lincoln, Robin;
    • Hauser, Stephen L.;
    • Cournu-Rebeix, Isabelle;
    • Azoulay-Cayla, Ariele;
    • Lyon-Caen, Olivier;
    • Fontaine, Bertrand;
    • Duhamel, Emmanuelle;
    • Coppin, Helene;
    • Brassat, David;
    • Roth, Marie-Paule;
    • Clanet, Michel;
    • Alizadeh, Mehdi;
    • Yaouanq, Jacqueline;
    • Quelvennec, Erwann
    Publication type:
    Article
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    Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.

    Published in:
    Human Mutation, 2006, v. 27, n. 11, p. 1082, doi. 10.1002/humu.20388
    By:
    • Stum, Morgane;
    • Davoine, Claire-Sophie;
    • Vicart, Savine;
    • Guillot-Noël, Léna;
    • Topaloglu, Haluk;
    • Carod-Artal, Francisco Javier;
    • Kayserili, Hülya;
    • Hentati, Fayçal;
    • Merlini, Luciano;
    • Urtizberea, Jon Andoni;
    • Hammouda, EL-Hadi;
    • Quan, Phuc Canh;
    • Fontaine, Bertrand;
    • Nicole, Sophie
    Publication type:
    Article
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    Mechanisms underlying a life-threatening skeletal muscle Na.

    Published in:
    Journal of Physiology, 2011, v. 589, n. 13, p. 3115, doi. 10.1113/jphysiol.2011.207977
    By:
    • Simkin, Dina;
    • Léna, Isabelle;
    • Landrieu, Pierre;
    • Lion-François, Laurence;
    • Sternberg, Damien;
    • Fontaine, Bertrand;
    • Bendahhou, Saïd
    Publication type:
    Article
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    Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.

    Published in:
    Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 495, doi. 10.3233/JND-200620
    By:
    • Stalens, Caroline;
    • Motté, Leslie;
    • Béhin, Anthony;
    • Yaou, Rabah Ben;
    • Leturcq, France;
    • Bassez, Guillaume;
    • Laforêt, Pascal;
    • Fontaine, Bertrand;
    • Ederhy, Stéphane;
    • Masingue, Marion;
    • Saadi, Malika;
    • Louis, Sarah Leonard;
    • Berber, Nawal;
    • Stojkovic, Tanya;
    • Duboc, Denis;
    • Wahbi, Karim
    Publication type:
    Article
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    New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41008-5
    By:
    • Masingue, Marion;
    • Cattaneo, Olivia;
    • Wolff, Nicolas;
    • Buon, Céline;
    • Sternberg, Damien;
    • Euchparmakian, Morgane;
    • Boex, Myriam;
    • Behin, Anthony;
    • Mamchaouhi, Kamel;
    • Maisonobe, Thierry;
    • Nougues, Marie-Christine;
    • Isapof, Arnaud;
    • Fontaine, Bertrand;
    • Messéant, Julien;
    • Eymard, Bruno;
    • Strochlic, Laure;
    • Bauché, Stéphanie
    Publication type:
    Article