Works matching AU Laforêt, Pascal

Results: 70
    1

    A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1325, doi. 10.3390/jcm9051325
    By:
    • Tebani, Abdellah;
    • Mauhin, Wladimir;
    • Abily-Donval, Lenaig;
    • Lesueur, Céline;
    • Berger, Marc G.;
    • Nadjar, Yann;
    • Berger, Juliette;
    • Benveniste, Oliver;
    • Lamari, Foudil;
    • Laforêt, Pascal;
    • Noel, Esther;
    • Marret, Stéphane;
    • Lidove, Olivier;
    • Bekri, Soumeya
    Publication type:
    Article
    2

    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
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    Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

    Published in:
    2020
    By:
    • Scalco, Renata S.;
    • Lucia, Alejandro;
    • Santalla, Alfredo;
    • Martinuzzi, Andrea;
    • Vavla, Marinela;
    • Reni, Gianluigi;
    • Toscano, Antonio;
    • Musumeci, Olimpia;
    • Voermans, Nicol C.;
    • Kouwenberg, Carlyn V.;
    • Laforêt, Pascal;
    • San-Millán, Beatriz;
    • Vieitez, Irene;
    • Siciliano, Gabriele;
    • Kühnle, Enrico;
    • Trost, Rebeca;
    • Sacconi, Sabrina;
    • Stemmerik, Mads G.;
    • Durmus, Hacer;
    • Kierdaszuk, Biruta
    Publication type:
    journal article
    5

    Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

    Published in:
    2020
    By:
    • Pinós, Tomàs;
    • Andreu, Antoni L.;
    • Bruno, Claudio;
    • Hadjigeorgiou, Georgios M.;
    • Haller, Ronald G.;
    • Laforêt, Pascal;
    • Lucía, Alejandro;
    • Martín, Miguel A.;
    • Martinuzzi, Andrea;
    • Navarro, Carmen;
    • Oflazer, Piraye;
    • Pouget, Jean;
    • Quinlivan, Ros;
    • Sacconi, Sabrina;
    • Scalco, Renata S.;
    • Toscano, Antonio;
    • Vissing, John;
    • Vorgerd, Matthias;
    • Wakelin, Andrew;
    • Martí, Ramon
    Publication type:
    journal article
    6

    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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    Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, p. 1, doi. 10.1186/s13023-023-02825-z
    By:
    • Karazi, Walaa;
    • Scalco, Renata S.;
    • Stemmerik, Mads G.;
    • Løkken, Nicoline;
    • Lucia, Alejandro;
    • Santalla, Alfredo;
    • Martinuzzi, Andrea;
    • Vavla, Marinela;
    • Reni, Gianluigi;
    • Toscano, Antonio;
    • Musumeci, Olimpia;
    • Kouwenberg, Carlyn V.;
    • Laforêt, Pascal;
    • Millán, Beatriz San;
    • Vieitez, Irene;
    • Siciliano, Gabriele;
    • Kühnle, Enrico;
    • Trost, Rebecca;
    • Sacconi, Sabrina;
    • Durmus, Hacer
    Publication type:
    Article
    9
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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
    11

    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
    12

    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
    13

    Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA.

    Published in:
    PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0152439
    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:
    Article
    14
    15

    The role of electrodiagnosis with long exercise test in mcardle disease.

    Published in:
    2018
    By:
    • Semplicini, Claudio;
    • Hézode‐arzel, Marianne;
    • Laforêt, Pascal;
    • Béhin, Anthony;
    • Leonard‐Louis, Sarah;
    • Hogrel, Jean‐Yves;
    • Petit, François;
    • Eymard, Bruno;
    • Stojkovic, Tanya;
    • Fournier, Emmanuel;
    • Hézode-Arzel, Marianne;
    • Leonard-Louis, Sarah;
    • Hogrel, Jean-Yves
    Publication type:
    journal article
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    104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).

    Published in:
    Journal of Neurology, 2024, v. 271, n. 5, p. 2810, doi. 10.1007/s00415-024-12236-0
    By:
    • Schoser, Benedikt;
    • Kishnani, Priya S.;
    • Bratkovic, Drago;
    • Byrne, Barry J.;
    • Claeys, Kristl G.;
    • Díaz-Manera, Jordi;
    • Laforêt, Pascal;
    • Roberts, Mark;
    • Toscano, Antonio;
    • van der Ploeg, Ans T.;
    • Castelli, Jeff;
    • Goldman, Mitchell;
    • Holdbrook, Fred;
    • Sitaraman Das, Sheela;
    • Wasfi, Yasmine;
    • Mozaffar, Tahseen;
    • Sebok, Agnes;
    • Pestronk, Alan;
    • Dominovic-Kovacevic, Aleksandra;
    • Khan, Aneal
    Publication type:
    Article
    19

    Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.

    Published in:
    Journal of Neurology, 2022, v. 269, n. 5, p. 2414, doi. 10.1007/s00415-021-10806-0
    By:
    • Quijano-Roy, Susana;
    • Haberlova, Jana;
    • Castiglioni, Claudia;
    • Vissing, John;
    • Munell, Francina;
    • Rivier, François;
    • Stojkovic, Tanya;
    • Malfatti, Edoardo;
    • Gómez García de la Banda, Marta;
    • Tasca, Giorgio;
    • Costa Comellas, Laura;
    • Benezit, Audrey;
    • Amthor, Helge;
    • Dabaj, Ivana;
    • Gontijo Camelo, Clara;
    • Laforêt, Pascal;
    • Rendu, John;
    • Romero, Norma B.;
    • Cavassa, Eliana;
    • Fattori, Fabiana
    Publication type:
    Article
    20

    Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study.

    Published in:
    Journal of Neurology, 2021, v. 268, n. 5, p. 1792, doi. 10.1007/s00415-020-10332-5
    By:
    • Querin, Giorgia;
    • Lenglet, Timothée;
    • Debs, Rabab;
    • Stojkovic, Tanya;
    • Behin, Anthony;
    • Salachas, François;
    • Le Forestier, Nadine;
    • Amador, Maria Del Mar;
    • Bruneteau, Gaëlle;
    • Laforêt, Pascal;
    • Blancho, Sophie;
    • Marchand-Pauvert, Véronique;
    • Bede, Peter;
    • Hogrel, Jean-Yves;
    • Pradat, Pierre-François
    Publication type:
    Article
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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
    24
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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
    26
    27

    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
    28

    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
    29

    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
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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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    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
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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
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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
    44

    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
    45

    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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    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
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