Resultados da pesquisa - Pascal Laforêt

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  1. 1
    Progress and challenges of gene therapy for Pompe disease

    Progress and challenges of gene therapy for Pompe disease Por Giuseppe Ronzitti, Fanny Collaud, Pascal Laforêt, Federico Mingozzi

    Publicado em 2019
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  2. 2
    Bezafibrate in skeletal muscle fatty acid oxidation disorders

    Bezafibrate in skeletal muscle fatty acid oxidation disorders Por Mette Cathrine Ørngreen, Karen L. Madsen, Nicolai Preisler, Grete Andersen, John Vissing, Pascal Laforêt

    Publicado em 2014
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  3. 3
    Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?

    Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression? Por Karine Auré, Hélène Ogier de Baulny, Pascal Laforêt, Claude Jardel, B. Eymard, Anne Lombès

    Publicado em 2007
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  4. 4
    Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease

    Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease Por N. Pellegrini, Pascal Laforêt, D. Orlikowski, Mariangela Pellegrini, Catherine Caillaud, B. Eymard, J-C. Raphael, Frédéric Lofaso

    Publicado em 2005
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  5. 5
    Supine volume drop and diaphragmatic function in adults with Pompe disease: Table 1–

    Supine volume drop and diaphragmatic function in adults with Pompe disease: Table 1– Por Hélène Prigent, David Orlikowski, Pascal Laforêt, Nadège Letilly, Line Falaize, N. Pellegrini, Djillali Annane, Jean‐Claude Raphaël, Frédéric Lofaso

    Publicado em 2012
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  6. 6
    Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

    Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy? Por R. Scalco, M.M.J. Snoeck, Rosaline C. M. Quinlivan, Susan Treves, Pascal Laforêt, Heinz Jungbluth, Nicol C. Voermans

    Publicado em 2016
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  7. 7
    Permanent muscle weakness in M<scp>C</scp>Ardle disease

    Permanent muscle weakness in M<scp>C</scp>Ardle disease Por Aleksandra Nadaj‐Pakleza, C. Vincitorio, Pascal Laforêt, B. Eymard, Élisabeth Dion, Susana Teijeira, Irene Vietez, Marc Jeanpierre, Carmen Navarro, Tanya Stojkovic

    Publicado em 2009
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  8. 8
    Muscle Glycogenosis Due to Phosphoglucomutase 1 Deficiency

    Muscle Glycogenosis Due to Phosphoglucomutase 1 Deficiency Por Tanya Stojkovic, John Vissing, François Petit, Monique Piraud, Mette Cathrine Ørngreen, Grete Andersen, Kristl G. Claeys, Claire Wary, Jean‐Yves Hogrel, Pascal Laforêt

    Publicado em 2009
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  9. 9
    Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age

    Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age Por M. Bisciglia, Gianmarco Severa, Norma B. Romero, Michel Fardeau, John Rendu, Tanya Stojkovic, Pascal Laforêt, B. Eymard, Ana Ferreiro, Edoardo Malfatti, Anthony Béhin

    Publicado em 2025
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  10. 10
    High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study

    High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study Por Karim Wahbi, Anthony Béhin, Philippe Charron, Murielle Dunand, Pascale Richard, Christophe Meune, Patrick Vicart, Pascal Laforêt, Tanya Stojkovic, Henri Marc Bécane, Thierry Küntzer, Denis Duboc

    Publicado em 2011
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  11. 11
    Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

    Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping Por Nicolas Wein, Aurélie Avril, Marc Bartoli, Cyriaque Beley, Soraya Chaouch, Pascal Laforêt, Anthony Béhin, Gillian Butler‐Browne, Vincent Mouly, Martin Krahn, Luis Garcı́a, Nicolas Lévy

    Publicado em 2009
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  12. 12
    Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients

    Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients Por Pierre G. Carlier, Noura Azzabou, Paulo Loureiro de Sousa, Arnaud Hicks, Jean‐Marc Boisserie, Alexis Amadon, Robert‐Yves Carlier, Claire Wary, David Orlikowski, Pascal Laforêt

    Publicado em 2015
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  13. 13
    Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases

    Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases Por Karim Wahbi, Wulfran Bougouin, Anthony Béhin, Tanya Stojkovic, Henri Marc Bécane, Claude Jardel, Nawal Berber, Fanny Mochel, Anne Lombès, B. Eymard, Denis Duboc, Pascal Laforêt

    Publicado em 2015
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  14. 14
    Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network

    Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network Por Guilhem Solé, Emmanuelle Salort‐Campana, Yann Péréon, Tanya Stojkovic, Karim Wahbi, Pascal Cintas, David H. Adams, Pascal Laforêt, V. Tiffreau, Isabelle Desguerre, Lucie I. Pisella, Annamaria Molon, Shahram Attarian

    Publicado em 2020
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  15. 15
    Autologous Myoblast Transplantation for Oculopharyngeal Muscular Dystrophy: a Phase I/Iia Clinical Study

    Autologous Myoblast Transplantation for Oculopharyngeal Muscular Dystrophy: a Phase I/Iia Clinical Study Por Sophie Périé, Capucine Trollet, Vincent Mouly, Valérie Vanneaux, Kamel Mamchaoui, Belaïd Bouazza, Jean Pierre Marolleau, Pascal Laforêt, Françoise Chapon, B. Eymard, Gillian Butler‐Browne, Jérôme Larghero, Jean Lacau St Guily

    Publicado em 2013
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  16. 16
    Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

    Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome Por Bruno Donadille, Pascal D’anella, Martine Auclair, Nancy Uhrhammer, Marc Sorel, R Grigorescu, Sophie Ouzounian, Gilles Cambonie, Pierre Boulot, Pascal Laforêt, B. Carbonne, Sophie Christin‐Maître, Yves‐Jean Bignon, Corinne Vigouroux

    Publicado em 2013
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  17. 17
    Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

    Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E Por Claudio Semplicini, John Vissing, Julia R. Dahlqvist, Tanya Stojkovic, Luca Bello, Nanna Witting, Morten Dunø, France Leturcq, Cinzia Bertolin, Paola D’Ambrosio, B. Eymard, C. Angelini, Luisa Politano, Pascal Laforêt, Elena Pegoraro

    Publicado em 2015
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  18. 18
    Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

    Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders Por Abdallah Fayssoil, Anthony Béhin, Adam Ogna, D. Mompoint, Helge Amthor, Bernard Clair, Pascal Laforêt, Arnaud Mansart, Hélène Prigent, David Orlikowski, Tanya Stojkovic, Stéphane Vinit, Robert Carlier, B. Eymard, Frédéric Lofaso, Djillali Annane

    Publicado em 2017
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  19. 19
    Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1

    Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1 Por Karim Wahbi, Vincent Algalarrondo, Henri Marc Bécane, Véronique Fressart, Chérif Beldjord, Kamel Azibi, Arnaud Lazarus, Nawal Berber, Hélène Radvanyi-Hoffman, Tanya Stojkovic, Anthony Béhin, Pascal Laforêt, B. Eymard, Stéphane N. Hatem, Denis Duboc

    Publicado em 2013
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  20. 20
    Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D

    Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and... Por Abdallah Fayssoil, Adam Ogna, Cendrine Chaffaut, Sylvie Chevret, Raquel Guimarães‐Costa, France Leturcq, Karim Wahbi, Hélène Prigent, Frédéric Lofaso, Olivier Nardi, Bernard Clair, Anthony Béhin, Tanya Stojkovic, Pascal Laforêt, David Orlikowski, Djillali Annane

    Publicado em 2016
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