Works by Laforêt, Pascal

Results: 70
    1
    2

    Analysis of the DYSF mutational spectrum in a large cohort of patients.

    Published in:
    Human Mutation, 2009, v. 30, n. 2, p. E345, doi. 10.1002/humu.20910
    By:
    • Krahn, Martin;
    • Béroud, Christophe;
    • Labelle, Véronique;
    • Nguyen, Karine;
    • Bernard, Rafaëlle;
    • Bassez, Guillaume;
    • Figarella-Branger, Dominique;
    • Fernandez, Carla;
    • Bouvenot, Julien;
    • Richard, Isabelle;
    • Ollagnon-Roman, Elisabeth;
    • Bevilacqua, Jorge A.;
    • Salvo, Eric;
    • Attarian, Shahram;
    • Chapon, Françoise;
    • Pellissier, Jean-François;
    • Pouget, Jean;
    • Hammouda, El Hadi;
    • Laforêt, Pascal;
    • Urtizberea, Jon Andoni
    Publication type:
    Article
    3

    No effect of triheptanoin on exercise performance in McArdle disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 10, p. 1949, doi. 10.1002/acn3.50863
    By:
    • Madsen, Karen L.;
    • Laforêt, Pascal;
    • Buch, Astrid E.;
    • Stemmerik, Mads G.;
    • Ottolenghi, Chris;
    • Hatem, Stéphane N.;
    • Raaschou‐Pedersen, Daniel T.;
    • Poulsen, Nanna S.;
    • Atencio, Maria;
    • Luton, Marie‐Pierre;
    • Ceccaldi, Alexandre;
    • Haller, Ronald G.;
    • Quinlivan, Ros;
    • Mochel, Fanny;
    • Vissing, John
    Publication type:
    Article
    4

    Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.

    Published in:
    JAMA Neurology, 2018, v. 75, n. 5, p. 573, doi. 10.1001/jamaneurol.2017.4778
    By:
    • Wahbi, Karim;
    • Porcher, Raphaël;
    • Laforêt, Pascal;
    • Fayssoil, Abdallah;
    • Bécane, Henri Marc;
    • Lazarus, Arnaud;
    • Sochala, Maximilien;
    • Stojkovic, Tanya;
    • Béhin, Anthony;
    • Leonard-Louis, Sarah;
    • Arnaud, Pauline;
    • Furling, Denis;
    • Probst, Vincent;
    • Babuty, Dominique;
    • Pellieux, Sybille;
    • Clementy, Nicolas;
    • Bassez, Guillaume;
    • Péréon, Yann;
    • Eymard, Bruno;
    • Duboc, Denis
    Publication type:
    Article
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    Mutations in dynamin 2 cause dominant centronuclear myopathy.

    Published in:
    Nature Genetics, 2005, v. 37, n. 11, p. 1207, doi. 10.1038/ng1657
    By:
    • Bitoun, Marc;
    • Maugenre, Svetlana;
    • Jeannet, Pierre-Yves;
    • Lacène, Emmanuelle;
    • Ferrer, Xavier;
    • Laforêt, Pascal;
    • Martin, Jean-Jacques;
    • Laporte, Jocelyn;
    • Lochmüller, Hanns;
    • Beggs, Alan H.;
    • Fardeau, Michel;
    • Eymard, Bruno;
    • Romero, Norma B.;
    • Guicheney, Pascale
    Publication type:
    Article
    8
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    Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

    Published in:
    Acta Neuropathologica, 2009, v. 117, n. 3, p. 293, doi. 10.1007/s00401-008-0479-7
    By:
    • Claeys, Kristl G.;
    • van der Ven, Peter F. M.;
    • Behin, Anthony;
    • Stojkovic, Tanya;
    • Eymard, Bruno;
    • Dubourg, Odile;
    • Laforêt, Pascal;
    • Faulkner, Georgine;
    • Richard, Pascale;
    • Vicart, Patrick;
    • Romero, Norma B.;
    • Stoltenburg, Gisela;
    • Udd, Bjarne;
    • Fardeau, Michel;
    • Voit, Thomas;
    • Fürst, Dieter O.
    Publication type:
    Article
    10
    11

    French recommendations for the management of glycogen storage disease type III.

    Published in:
    European Journal of Medical Research, 2023, v. 28, n. 1, p. 1, doi. 10.1186/s40001-023-01212-5
    By:
    • Wicker, Camille;
    • Cano, Aline;
    • Decostre, Valérie;
    • Froissart, Roseline;
    • Maillot, François;
    • Perry, Ariane;
    • Petit, François;
    • Voillot, Catherine;
    • Wahbi, Karim;
    • Wenz, Joëlle;
    • Laforêt, Pascal;
    • Labrune, Philippe
    Publication type:
    Article
    12
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    Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. 3160, doi. 10.1093/brain/awu272
    By:
    • Böhm, Johann;
    • Biancalana, Valérie;
    • Malfatti, Edoardo;
    • Dondaine, Nicolas;
    • Koch, Catherine;
    • Vasli, Nasim;
    • Kress, Wolfram;
    • Strittmatter, Matthias;
    • Taratuto, Ana Lia;
    • Gonorazky, Hernan;
    • Laforêt, Pascal;
    • Maisonobe, Thierry;
    • Olivé, Montse;
    • Gonzalez-Mera, Laura;
    • Fardeau, Michel;
    • Carrière, Nathalie;
    • Clavelou, Pierre;
    • Eymard, Bruno;
    • Bitoun, Marc;
    • Rendu, John
    Publication type:
    Article
    15

    A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 483, doi. 10.1093/brain/awr342
    By:
    • Herson, Serge;
    • Hentati, Faycal;
    • Rigolet, Aude;
    • Behin, Anthony;
    • Romero, Norma B.;
    • Leturcq, France;
    • Laforêt, Pascal;
    • Maisonobe, Thierry;
    • Amouri, Rim;
    • Haddad, Hafedh;
    • Audit, Muriel;
    • Montus, Marie;
    • Masurier, Carole;
    • Gjata, Bernard;
    • Georger, Christophe;
    • Cheraï, Mustapha;
    • Carlier, Pierre;
    • Hogrel, Jean-Yves;
    • Herson, Ariane;
    • Allenbach, Yves
    Publication type:
    Article
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    A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.

    Published in:
    2020
    By:
    • Echaniz‐Laguna, Andoni;
    • Lornage, Xavière;
    • Laforêt, Pascal;
    • Orngreen, Mette C.;
    • Edelweiss, Evelina;
    • Brochier, Guy;
    • Bui, Mai T.;
    • Silva‐Rojas, Roberto;
    • Birck, Catherine;
    • Lannes, Béatrice;
    • Romero, Norma B.;
    • Vissing, John;
    • Laporte, Jocelyn;
    • Böhm, Johann;
    • Echaniz-Laguna, Andoni;
    • Silva-Rojas, Roberto
    Publication type:
    journal article
    19
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    Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.

    Published in:
    Scientific Reports, 2016, p. 36182, doi. 10.1038/srep36182
    By:
    • Masat, Elisa;
    • Laforêt, Pascal;
    • De Antonio, Marie;
    • Corre, Guillaume;
    • Perniconi, Barbara;
    • Taouagh, Nadjib;
    • Mariampillai, Kuberaka;
    • Amelin, Damien;
    • Mauhin, Wladimir;
    • Hogrel, Jean-Yves;
    • Caillaud, Catherine;
    • Ronzitti, Giuseppe;
    • Puzzo, Francesco;
    • Kuranda, Klaudia;
    • Colella, Pasqualina;
    • Mallone, Roberto;
    • Benveniste, Olivier;
    • Mingozzi, Federico
    Publication type:
    Article
    21
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    Correction: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA.

    Published in:
    2016
    By:
    • El Mendili, Mohamed-Mounir;
    • Lenglet, Timothée;
    • Stojkovic, Tanya;
    • Behin, Anthony;
    • Guimarães-Costa, Raquel;
    • Salachas, François;
    • Meininger, Vincent;
    • Bruneteau, Gaelle;
    • Le Forestier, Nadine;
    • Laforêt, Pascal;
    • Lehéricy, Stéphane;
    • Benali, Habib;
    • Pradat, Pierre-François
    Publication type:
    Correction Notice
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    Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-106
    By:
    • Donadille, Bruno;
    • D'Anella, Pascal;
    • Auclair, Martine;
    • Uhrhammer, Nancy;
    • Sorel, Marc;
    • Grigorescu, Romulus;
    • Ouzounian, Sophie;
    • Cambonie, Gilles;
    • Boulot, Pierre;
    • Laforêt, Pascal;
    • Carbonne, Bruno;
    • Christin-Maitre, Sophie;
    • Bignon, Yves-Jean;
    • Vigouroux, Corinne
    Publication type:
    Article
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    Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

    Published in:
    Annals of Neurology, 2012, v. 72, n. 3, p. 433, doi. 10.1002/ana.23598
    By:
    • Mochel, Fanny;
    • Schiffmann, Raphael;
    • Steenweg, Marjan E.;
    • Akman, Hasan O.;
    • Wallace, Mary;
    • Sedel, Frédéric;
    • Laforêt, Pascal;
    • Levy, Richard;
    • Powers, J. Michael;
    • Demeret, Sophie;
    • Maisonobe, Thierry;
    • Froissart, Roseline;
    • Da Nobrega, Bruno Barcelos;
    • Fogel, Brent L.;
    • Natowicz, Marvin R.;
    • Lubetzki, Catherine;
    • Durr, Alexandra;
    • Brice, Alexis;
    • Rosenmann, Hanna;
    • Barash, Varda
    Publication type:
    Article
    28

    Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12819
    By:
    • Imbard, Apolline;
    • de Calbiac, Hortense;
    • Le Guillou, Edouard;
    • Laforêt, Pascal;
    • Schiff, Manuel;
    • Brassier, Anaïs;
    • Thevenet, Elise;
    • Pontoizeau, Clément;
    • Lefrère, Bertrand;
    • Ottolenghi, Chris;
    • Lebigot, Elise;
    • Gaignard, Pauline;
    • Gobin, Stéphanie;
    • Acquaviva‐Bourdain, Cécile;
    • Benoist, Jean‐François;
    • Tuchmann‐Durand, Caroline;
    • Legendre, Antoine;
    • de Lonlay, Pascale
    Publication type:
    Article
    29
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    Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1219, doi. 10.1002/jimd.12272
    By:
    • Semplicini, Claudio;
    • De Antonio, Marie;
    • Taouagh, Nadjib;
    • Béhin, Anthony;
    • Bouhour, Françoise;
    • Echaniz‐Laguna, Andoni;
    • Magot, Armelle;
    • Nadaj‐Pakleza, Aleksandra;
    • Orlikowski, David;
    • Sacconi, Sabrina;
    • Salort‐Campana, Emmanuelle;
    • Solé, Guilhem;
    • Tard, Céline;
    • Zagnoli, Fabien;
    • Hogrel, Jean‐Yves;
    • Hamroun, Dalil;
    • Laforêt, Pascal
    Publication type:
    Article
    32
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    Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
    By:
    • Semplicini, Claudio;
    • Letard, Pascaline;
    • De Antonio, Marie;
    • Taouagh, Nadjib;
    • Perniconi, Barbara;
    • Bouhour, Françoise;
    • Echaniz‐Laguna, Andoni;
    • Orlikowski, David;
    • Sacconi, Sabrina;
    • Salort‐Campana, Emmanuelle;
    • Solé, Guilhem;
    • Zagnoli, Fabien;
    • Hamroun, Dalil;
    • Froissart, Roseline;
    • Caillaud, Catherine;
    • Laforêt, Pascal;
    • French Pompe Study Group
    Publication type:
    Article
    36

    Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
    By:
    • Semplicini, Claudio;
    • Letard, Pascaline;
    • De Antonio, Marie;
    • Taouagh, Nadjib;
    • Perniconi, Barbara;
    • Bouhour, Françoise;
    • Echaniz-Laguna, Andoni;
    • Orlikowski, David;
    • Sacconi, Sabrina;
    • Salort-Campana, Emmanuelle;
    • Solé, Guilhem;
    • Zagnoli, Fabien;
    • Hamroun, Dalil;
    • Froissart, Roseline;
    • Caillaud, Catherine;
    • Laforêt, Pascal;
    • French Pompe Study Group
    Publication type:
    Article
    37

    Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 697, doi. 10.1007/s10545-016-9932-2
    By:
    • Sentner, Christiaan;
    • Hoogeveen, Irene;
    • Weinstein, David;
    • Santer, René;
    • Murphy, Elaine;
    • McKiernan, Patrick;
    • Steuerwald, Ulrike;
    • Beauchamp, Nicholas;
    • Taybert, Joanna;
    • Laforêt, Pascal;
    • Petit, François;
    • Hubert, Aurélie;
    • Labrune, Philippe;
    • Smit, G.;
    • Derks, Terry
    Publication type:
    Article
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    Galectin-3: a novel biomarker of glycogen storage disease type III.

    Published in:
    Cell Death Discovery, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41420-025-02452-6
    By:
    • Rossiaud, Lucille;
    • Miagoux, Quentin;
    • Benabides, Manon;
    • Reiss, Océane;
    • Jauze, Louisa;
    • Jarrige, Margot;
    • Polvèche, Hélène;
    • Malfatti, Edoardo;
    • Laforêt, Pascal;
    • Ronzitti, Giuseppe;
    • Nissan, Xavier;
    • Hoch, Lucile
    Publication type:
    Article
    41
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    Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale.

    Published in:
    European Journal of Neurology, 2024, v. 31, n. 12, p. 1, doi. 10.1111/ene.16397
    By:
    • van Kooten, Harmke A.;
    • Horton, Mike C.;
    • Wenninger, Stephan;
    • Babačić, Haris;
    • Schoser, Benedikt;
    • Lefeuvre, Claire;
    • Taouagh, Najib;
    • Laforêt, Pascal;
    • Segovia, Sonia;
    • Díaz‐Manera, Jordi;
    • Claeys, Kristl G.;
    • Mongini, Tiziana;
    • Musumeci, Olimpia;
    • Toscano, Antonio;
    • Hundsberger, Thomas;
    • Brusse, Esther;
    • van Doorn, Pieter A.;
    • van der Ploeg, Ans T.;
    • van der Beek, Nadine A. M. E.;
    • van Kooten, H. A
    Publication type:
    Article
    43
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    Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort.

    Published in:
    European Journal of Neurology, 2023, v. 30, n. 8, p. 2506, doi. 10.1111/ene.15832
    By:
    • Berling, Edouard;
    • Verebi, Camille;
    • Venturelli, Nadia;
    • Vassilopoulos, Stéphane;
    • Béhin, Anthony;
    • Tard, Céline;
    • Michaud, Maud;
    • Quiles, Rocio Nur Villar;
    • Vicart, Savine;
    • Masingue, Marion;
    • Carlier, Robert‐Yves;
    • Romero, Norma Beatriz;
    • Lacene, Emmanuelle;
    • Leturcq, France;
    • Eymard, Bruno;
    • Laforêt, Pascal;
    • Stojkovic, Tanya
    Publication type:
    Article
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    Macroglossia: A potentially severe complication of late‐onset Pompe disease.

    Published in:
    European Journal of Neurology, 2022, v. 29, n. 7, p. 2121, doi. 10.1111/ene.15330
    By:
    • Dupé, Charlotte;
    • Lefeuvre, Claire;
    • Solé, Guilhem;
    • Behin, Anthony;
    • Pottier, Corinne;
    • Duval, Fanny;
    • Carlier, Robert‐Yves;
    • Prigent, Hélène;
    • Lacau St Guily, Jean;
    • Arrassi, Azzeddine;
    • Taouagh, Nadjib;
    • Hamroun, Dalil;
    • Nicolas, Guillaume;
    • Laforêt, Pascal
    Publication type:
    Article
    47

    Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID‐19 pandemic.

    Published in:
    European Journal of Neurology, 2022, v. 29, n. 4, p. 1181, doi. 10.1111/ene.15222
    By:
    • Tard, Céline;
    • Salort‐Campana, Emmanuelle;
    • Michaud, Maud;
    • Spinazzi, Marco;
    • Nadaj Pakleza, Aleksandra;
    • Durr, Hélène;
    • Bouhour, Françoise;
    • Lefeuvre, Claire;
    • Thomas, Romain;
    • Arrassi, Azzeddine;
    • Taouagh, Nadjib;
    • Solé, Guilhem;
    • Laforêt, Pascal;
    • P, Laforêt;
    • D, Orlikowski;
    • G, Bassez;
    • D, Germain;
    • JB, Noury;
    • F, Zagnoli;
    • C, Tard
    Publication type:
    Article
    48

    Deep phenotyping of an international series of patients with late‐onset dysferlinopathy.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 6, p. 2092, doi. 10.1111/ene.14821
    By:
    • Fernández‐Eulate, Gorka;
    • Querin, Giorgia;
    • Moore, Ursula;
    • Behin, Anthony;
    • Masingue, Marion;
    • Bassez, Guillaume;
    • Leonard‐Louis, Sarah;
    • Laforêt, Pascal;
    • Maisonobe, Thierry;
    • Merle, Philippe‐Edouard;
    • Spinazzi, Marco;
    • Solé, Guilhem;
    • Kuntzer, Thierry;
    • Bedat‐Millet, Anne‐Laure;
    • Salort‐Campana, Emmanuelle;
    • Attarian, Shahram;
    • Péréon, Yann;
    • Feasson, Leonard;
    • Graveleau, Julie;
    • Nadaj‐Pakleza, Aleksandra
    Publication type:
    Article
    49

    Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.

    Published in:
    European Heart Journal, 2017, v. 38, n. 10, p. 751, doi. 10.1093/eurheartj/ehw569
    By:
    • Wahbi, Karim;
    • Babuty, Dominique;
    • Probst, Vincent;
    • Wissocque, Ludivine;
    • Labombarda, Fabien;
    • Porcher, Raphaël;
    • écane, Henri Marc B.;
    • Lazarus, Arnaud;
    • Béhin, Anthony;
    • Laforêt, Pascal;
    • Stojkovic, Tanya;
    • Clementy, Nicolas;
    • Dussauge, Aurélie Pattier;
    • Gourraud, Jean Baptiste;
    • Pereon, Yann;
    • Lacour, Arnaud;
    • Chapon, Françoise;
    • Milliez, Paul;
    • Klug, Didier;
    • Eymard, Bruno
    Publication type:
    Article
    50