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Nutritional status, swallowing disorders, and respiratory prognosis in adult Duchenne muscular dystrophy patients.
Published in:
Pediatric Pulmonology, 2021, v. 56, n. 7, p. 2146, doi. 10.1002/ppul.25430
By:
- Fayssoil, Abdallah;
- Chaffaut, Cendrine;
- Prigent, Helene;
- Laforet, Pascal;
- Clair, Bernard;
- Orlikowski, David;
- Ogna, Adam;
- Chevret, Sylvie;
- Meng, Paris;
- Annane, Djillali;
- Lofaso, Frederic;
- Crenn, Pascal
Publication type:
Article
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Published in:
2017
By:
- Thevenon, Julien;
- Laurent, Gabriel;
- Ader, Flavie;
- Laforệt, Pascal;
- Klug, Didier;
- Pentiah, Anju Duva;
- Gouya, Laurent;
- Maurage, Claude Alain;
- Kacet, Salem;
- Eicher, Jean-Christophe;
- Albuisson, Juliette;
- Desnos, Michel;
- Bieth, Eric;
- Duboc, Denis;
- Martin, Laurent;
- Réant, Patricia;
- Picard, François;
- Bonithon-Kopp, Claire;
- Gautier, Elodie;
- Binquet, Christine
Publication type:
journal article
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.
Published in:
2018
By:
- Tordjman, Mickael;
- Dabaj, Ivana;
- Laforet, Pascal;
- Felter, Adrien;
- Ferreiro, Ana;
- Biyoukar, Moustafa;
- Law-Ye, Bruno;
- Zanoteli, Edmar;
- Castiglioni, Claudia;
- Rendu, John;
- Beroud, Christophe;
- Chamouni, Alexandre;
- Richard, Pascale;
- Mompoint, Dominique;
- Quijano-Roy, Susana;
- Carlier, Robert-Yves
Publication type:
journal article
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
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.
Published in:
2013
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:
journal article
High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody.
Published in:
2016
By:
- Allenbach, Yves;
- Keraen, Jeremy;
- Bouvier, Anne-marie;
- Jooste, Valérie;
- Champtiaux, Nicolas;
- Hervier, Baptiste;
- Schoindre, Yoland;
- Rigolet, Aude;
- Gilardin, Laurent;
- Musset, Lucile;
- Charuel, Jean-Luc;
- Boyer, Olivier;
- Jouen, Fabienne;
- Drouot, Laurent;
- Martinet, Jeremie;
- Stojkovic, Tanya;
- Eymard, Bruno;
- Laforêt, Pascal;
- Behin, Antony;
- Salort-Campana, Emmanuelle
Publication type:
journal article
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
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
Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study.
Published in:
PLoS ONE, 2023, v. 18, n. 9, p. 1, doi. 10.1371/journal.pone.0290627
By:
- Dupitier, Elise;
- Voisin, Manon;
- Stalens, Caroline;
- Laforêt, Pascal;
- Pouplin, Samuel
Publication type:
Article
Les sarcoglycanopathies: État des lieux et perspectives thérapeutiques.
Published in:
Médecine Sciences, 2020, v. 36, p. 22, doi. 10.1051/medsci/2020243
By:
- Fernández-Eulate, Gorka;
- Leturcq, France;
- Laforêt, Pascal;
- Richard, Isabelle;
- Stojkovic, Tanya
Publication type:
Article
Forme adulte de la maladie de Pompe : les leçons du Myozyme<sup>®</sup>: Utilisation clinique des traitements innovants, repositionnés ou hors AMM : le vécu du terrain (1).
Published in:
Médecine Sciences, 2019, v. 35, p. 18, doi. 10.1051/medsci/2019021
By:
- Laforêt, Pascal
Publication type:
Article
Diagnostic workup of rhabdomyolysis: Genetic testing should precede neurophysiological testing.
Published in:
Muscle & Nerve, 2024, v. 70, n. 4, p. 727, doi. 10.1002/mus.28205
By:
- Voermans, Nicol C.;
- Bhai, Salman;
- Laforet, Pascal;
- Vissing, John
Publication type:
Article
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
Published in:
Nature Genetics, 2007, v. 39, n. 1, p. 28, doi. 10.1038/ng1951
By:
- Fischer, Judith;
- Lefèvre, Caroline;
- Morava, Eva;
- Mussini, Jean-Marie;
- Laforêt, Pascal;
- Negre-Salvayre, Anne;
- Lathrop, Mark;
- Salvayre, Robert
Publication type:
Article
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
Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency.
Published in:
2013
By:
- Preisler, Nicolai;
- Laforêt, Pascal;
- Echaniz-Laguna, Andoni;
- Orngreen, Mette C;
- Lonsdorfer-Wolf, Evelyne;
- Doutreleau, Stephane;
- Geny, Bernard;
- Stojkovic, Tanya;
- Piraud, Monique;
- Petit, François M;
- Vissing, John
Publication type:
Journal Article
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
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
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
Published in:
2017
By:
- Byrne, Barry J.;
- Geberhiwot, Tarekegn;
- Barshop, Bruce A.;
- Barohn, Richard;
- Hughes, Derralynn;
- Bratkovic, Drago;
- Desnuelle, Claude;
- Laforet, Pascal;
- Mengel, Eugen;
- Roberts, Mark;
- Haroldsen, Peter;
- Reilley, Kristin;
- Jayaram, Kala;
- Ke Yang;
- Walsh, Liron;
- Yang, Ke;
- POM-001/002 Investigators
Publication type:
journal article
Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy.
Published in:
Muscle & Nerve, 2022, v. 65, n. 1, p. 89, doi. 10.1002/mus.27432
By:
- Fayssoil, Abdallah;
- Nguyen, Lee S.;
- Stojkovic, Tanya;
- Prigent, Helene;
- Carlier, Robert;
- Amthor, Helge;
- Bergounioux, Jean;
- Zini, Justine;
- Damez‐Fontaine, Sebastien;
- Wahbi, Karim;
- Laforet, Pascal;
- Nicolas, Guillaume;
- Behin, Anthony;
- Bassez, Guillaume;
- Leturcq, France;
- Ben Yaou, Rabah;
- Mansencal, Nicolas;
- Annane, Djillali;
- Lofaso, Frédéric;
- Orlikowski, David
Publication type:
Article
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.
Published in:
2019
By:
- Tobaly, David;
- Laforêt, Pascal;
- Perry, Ariane;
- Habes, Dalila;
- Labrune, Philippe;
- Decostre, Valerie;
- Masingue, Marion;
- Petit, Francois;
- Barp, Andrea;
- Bello, Luca;
- Carlier, Pierre;
- Carlier, Robert‐Yves;
- Carlier, Robert-Yves
Publication type:
journal article
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
Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.
Published in:
2018
By:
- Stojkovic, Tanya;
- Chanut, Anaïs;
- Laforêt, Pascal;
- Madelaine, Angeline;
- Petit, François;
- Romero, Norma B.;
- Malfatti, Edoardo
Publication type:
journal article
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.
Published in:
2017
By:
- Papadopoulos, Constantinos;
- LaforÊt, Pascal;
- Nectoux, Juliette;
- Stojkovic, Tanya;
- Wahbi, Karim;
- Carlier, Robert‐Yves;
- Carlier, Pierre G;
- Leonard‐Louis, Sarah;
- Leturcq, France;
- Romero, Norma;
- Eymard, Bruno;
- Behin, Anthony
Publication type:
journal article
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Published in:
2017
By:
- Cerino, Mathieu;
- Gorokhova, Svetlana;
- Laforet, Pascal;
- Ben Yaou, Rabah;
- Salort‐Campana, Emmanuelle;
- Pouget, Jean;
- Attarian, Shahram;
- Eymard, Bruno;
- Deleuze, Jean‐François;
- Boland, Anne;
- Behin, Anthony;
- Stojkovic, Tanya;
- Bonne, Gisele;
- Levy, Nicolas;
- Bartoli, Marc;
- Krahn, Martin
Publication type:
journal article
Peripheral neuropathy in glycogen storage disease type III: Fact or myth?
Published in:
2016
By:
- Herlin, Bastien;
- Laforět, Pascal;
- Labrune, Philippe;
- Fournier, Emmanuel;
- Stojkovic, Tanya
Publication type:
journal article
SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france.
Published in:
Muscle & Nerve, 2015, v. 51, n. 6, p. 884, doi. 10.1002/mus.24653
By:
- Echaniz‐Laguna, Andoni;
- Carlier, Robert‐Yves;
- Laloui, Kenza;
- Carlier, Pierre;
- Salort‐Campana, Emmanuelle;
- Pouget, Jean;
- Laforet, Pascal
Publication type:
Article
Exertional hyperckemia might be the first manifestation of a genetic disorder.
Published in:
Muscle & Nerve, 2013, v. 48, n. 3, p. 461, doi. 10.1002/mus.23826
By:
- Voermans, Nicol C.;
- Jungbluth, Heinz;
- Brusse, Esther;
- Engelen, Baziel G.;
- Lafôret, Pascal
Publication type:
Article
Permanent muscle weakness in M CArdle disease.
Published in:
Muscle & Nerve, 2009, v. 40, n. 3, p. 350, doi. 10.1002/mus.21351
By:
- Nadaj-Pakleza, Aleksandra A.;
- Vincitorio, Carlo M.;
- Laforêt, Pascal;
- Eymard, Bruno;
- Dion, Elisabeth;
- Teijeira, Susana;
- Vietez, Irene;
- Jeanpierre, Marc;
- Navarro, Carmen;
- Stojkovic, Tanya
Publication type:
Article
Clinical features of late-onset Pompe disease: A prospective cohort study.
Published in:
Muscle & Nerve, 2008, v. 38, n. 4, p. 1236, doi. 10.1002/mus.21025
By:
- Wokke, John H.J.;
- Escolar, Diana M.;
- Pestronk, Alan;
- Jaffe, Kenneth M.;
- Carter, Gregory T.;
- van den Berg, Leonard H.;
- Florence, Julaine M.;
- Mayhew, Jill;
- Skrinar, Alison;
- Corzo, Deyanira;
- Laforet, Pascal
Publication type:
Article
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
Published in:
Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0815-2
By:
- Laforêt, Pascal;
- Inoue, Michio;
- Goillot, Evelyne;
- Lefeuvre, Claire;
- Cagin, Umut;
- Streichenberger, Nathalie;
- Leonard-Louis, Sarah;
- Brochier, Guy;
- Madelaine, Angeline;
- Labasse, Clemence;
- Hedberg-Oldfors, Carola;
- Krag, Thomas;
- Jauze, Louisa;
- Fabregue, Julien;
- Labrune, Philippe;
- Milisenda, Jose;
- Nadaj-Pakleza, Aleksandra;
- Sacconi, Sabrina;
- Mingozzi, Federico;
- Ronzitti, Giuseppe
Publication type:
Article
Functional characterization of novel mutations in the human cytochrome b gene.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 7, p. 510, doi. 10.1038/sj.ejhg.5200678
By:
- Legros, Frédéric;
- Chatzoglou, Evi;
- Frachon, Paule;
- Ogier de Baulny, Hélène;
- Laforêt, Pascal;
- Jardel, Claude;
- Godinot, Catherine;
- Lombès, Anne
Publication type:
Article
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
Impaired fat oxidation during exercise in multiple acyl‐CoA dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 79, doi. 10.1002/jmd2.12024
By:
- Madsen, Karen L.;
- Preisler, Nicolai;
- Buch, Astrid E.;
- Stemmerik, Mads G.;
- Laforêt, Pascal;
- Vissing, John
Publication type:
Article
Autologous Myoblast Transplantation for Oculopharyngeal Muscular Dystrophy: a Phase I/Iia Clinical Study.
Published in:
Molecular Therapy, 2014, v. 22, n. 1, p. 219, doi. 10.1038/mt.2013.155
By:
- Périé, Sophie;
- Trollet, Capucine;
- Mouly, Vincent;
- Vanneaux, Valérie;
- Mamchaoui, Kamel;
- Bouazza, Belaïd;
- Marolleau, Jean Pierre;
- Laforêt, Pascal;
- Chapon, Françoise;
- Eymard, Bruno;
- Butler-Browne, Gillian;
- Larghero, Jérome;
- St Guily, Jean Lacau
Publication type:
Article
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
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
Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 6, p. 1516, doi. 10.1093/brain/awm067
By:
- Karine Auré;
- Hélène Ogier de Baulny;
- Pascal Laforêt;
- Claude Jardel;
- Bruno Eymard;
- Anne Lombès
Publication type:
Article
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.
Published in:
Brain: A Journal of Neurology, 2006, v. 129, n. 6, p. 1463, doi. 10.1093/brain/awl071
By:
- Dirk Fischer;
- Muriel Herasse;
- Marc Bitoun;
- Héctor M. Barragán-Campos;
- Jacques Chiras;
- Pascal Laforêt;
- Michel Fardeau;
- Bruno Eymard;
- Pascale Guicheney;
- Norma B. Romero
Publication type:
Article
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Published in:
Acta Neuropathologica, 2009, v. 117, n. 3, p. 283, doi. 10.1007/s00401-008-0472-1
By:
- Bevilacqua, Jorge A.;
- Bitoun, Marc;
- Biancalana, Val&x00E9;rie;
- Oldfors, Anders;
- Stoltenburg, Gisela;
- Claeys, Kristl G.;
- Lacène, Emmanuelle;
- Brochier, Guy;
- Manéré, Linda;
- Laforêt, Pascal;
- Eymard, Bruno;
- Guicheney, Pascale;
- Fardeau, Michel;
- Romero, Norma Beatriz
Publication type:
Article
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
Determinants and Characterization of Locomotion in Adults with Late-Onset Pompe Disease: New Clinical Biomarkers.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 963, doi. 10.3233/JND-230060
By:
- Maulet, Théo;
- Cattagni, Thomas;
- Dubois, Fabien;
- Roche, Nicolas;
- Laforet, Pascal;
- Bonnyaud, Céline
Publication type:
Article
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
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
Minutes of the European POmpe Consortium (EPOC) Meeting.
Published in:
Acta Myologica, 2015, v. 34, n. 2/3, p. 141
By:
- SCHOSER, BENEDIKT;
- LAFORÊT, PASCAL;
- KRUIJSHAAR, MICHELLE E.;
- TOSCANO, ANTONIO;
- VAN DOORN, PIETER A.;
- VAN DER PLOEG, ANS T.
Publication type:
Article
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
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
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
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
Published in:
Annals of Neurology, 2013, v. 74, n. 6, p. 914, doi. 10.1002/ana.23963
By:
- Nilsson, Johanna;
- Schoser, Benedikt;
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- Kalev, Ognian;
- Lindberg, Christopher;
- Romero, Norma B.;
- Dávila López, Marcela;
- Akman, Hasan O.;
- Wahbi, Karim;
- Iglseder, Stephan;
- Eggers, Christian;
- Engel, Andrew G.;
- DiMauro, Salvatore;
- Oldfors, Anders
Publication type:
Article
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
Electromyography guides toward subgroups of mutations in muscle channelopathies.
Published in:
Annals of Neurology, 2004, v. 56, n. 5, p. 650
By:
- Emmanuel Fournier;
- Marianne Arzel;
- Damien Sternberg;
- Savine Vicart;
- Pascal Laforet;
- Bruno Eymard;
- Jean‐Claude Willer;
- Nacira Tabti;
- Bertrand Fontaine
Publication type:
Article

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