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	101.	Mutations in dynamin 2 cause dominant centronuclear myopathy. [electronic resource] 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 Producer: 20060110 In: Nature genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1. [electronic resource] by Wahbi, Karim Algalarrondo, Vincent Bécane, Henri Marc Fressart, Véronique Beldjord, Chérif Azibi, Kamel Lazarus, Arnaud Berber, Nawal Radvanyi-Hoffman, Hélène Stojkovic, Tanya Béhin, Anthony Laforêt, Pascal Eymard, Bruno Hatem, Stéphane Duboc, Denis Producer: 20140725 In: Archives of cardiovascular diseases vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. [electronic resource] by Nilsson, Johanna Schoser, Benedikt Laforet, Pascal 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 Producer: 20140318 In: Annals of neurology vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa. [electronic resource] by Decostre, Valérie Laforêt, Pascal De Antonio, Marie Kachetel, Kahina Canal, Aurélie Ollivier, Gwenn Nadaj-Pakleza, Aleksandra Petit, François M Wahbi, Karim Fayssoil, Abdallah Eymard, Bruno Behin, Anthony Labrune, Philippe Hogrel, Jean-Yves Producer: 20180801 In: Molecular genetics and metabolism vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease. [electronic resource] 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 Yang, Ke Walsh, Liron Producer: 20180514 In: Orphanet journal of rare diseases vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders. [electronic resource] by Fayssoil, Abdallah Behin, Anthony Ogna, Adam Mompoint, Dominique Amthor, Helge Clair, Bernard Laforet, Pascal Mansart, Arnaud Prigent, Helene Orlikowski, David Stojkovic, Tanya Vinit, Stéphane Carlier, Robert Eymard, Bruno Lofaso, Frederic Annane, Djillali Producer: 20180605 In: Journal of neuromuscular diseases vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort. [electronic resource] by Carvalho, Alzira Alves de Siqueira Lacene, Emmanuele Brochier, Guy Labasse, Clémance Madelaine, Angeline Silva, Vinicius Gomes da Corazzini, Roseli Papadopoulos, Konstantinos Behin, Anthony Laforêt, Pascal Stojkovic, Tania Eymard, Bruno Fardeau, Michel Romero, Norma Producer: 20181011 In: Genetic testing and molecular biomarkers vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry. [electronic resource] by Chong-Nguyen, Caroline Wahbi, Karim Algalarrondo, Vincent Bécane, Henri Marc Radvanyi-Hoffman, Hélène Arnaud, Pauline Furling, Denis Lazarus, Arnaud Bassez, Guillaume Béhin, Anthony Fayssoil, Abdallah Laforêt, Pascal Stojkovic, Tanya Eymard, Bruno Duboc, Denis Producer: 20180115 In: Circulation. Cardiovascular genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	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. [electronic resource] by Fayssoil, Abdallah Ogna, Adam Chaffaut, Cendrine Chevret, Sylvie Guimarães-Costa, Raquel Leturcq, France Wahbi, Karim Prigent, Helene Lofaso, Frederic Nardi, Olivier Clair, Bernard Behin, Anthony Stojkovic, Tanya Laforet, Pascal Orlikowski, David Annane, Djillali Producer: 20170217 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity. [electronic resource] 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 Producer: 20190109 In: European radiology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders. [electronic resource] by Fayssoil, Abdallah Nguyen, Lee S Ogna, Adam Stojkovic, Tanya Meng, Paris Mompoint, Dominique Carlier, Robert Prigent, Helene Clair, Bernard Behin, Anthony Laforet, Pascal Bassez, Guillaume Crenn, Pascal Orlikowski, David Annane, Djillali Eymard, Bruno Lofaso, Frederic Producer: 20191218 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. [electronic resource] by Goudeau, Bertrand Rodrigues-Lima, Fernando Fischer, Dirk Casteras-Simon, Monique Sambuughin, Nyamkhishig de Visser, Marianne Laforet, Pascal Ferrer, Xavier Chapon, Françoise Sjöberg, Gunnar Kostareva, Anna Sejersen, Thomas Dalakas, Marinos C Goldfarb, Lev G Vicart, Patrick Producer: 20061024 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study. [electronic resource] 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 Producer: 20191105 In: Journal of inherited metabolic disease vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing. [electronic resource] 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 Producer: 20171019 In: Muscle & nerve vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	115.	Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. [electronic resource] by Harlaar, Laurike Hogrel, Jean-Yves Perniconi, Barbara Kruijshaar, Michelle E Rizopoulos, Dimitris Taouagh, Nadjib Canal, Aurélie Brusse, Esther van Doorn, Pieter A van der Ploeg, Ans T Laforêt, Pascal van der Beek, Nadine A M E Producer: 20200203 In: Neurology vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis. [electronic resource] by Fayssoil, Abdallah Ben Yaou, Rabah Ogna, Adam Chaffaut, Cendrine Leturcq, France Nardi, Olivier Wahbi, Karim Duboc, Denis Lofaso, Frederic Prigent, Helene Clair, Bernard Crenn, Pascal Nicolas, Guillaume Laforet, Pascal Behin, Anthony Chevret, Sylvie Orlikowski, David Annane, Djillali Producer: 20180215 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations. [electronic resource] by Auré, Karine Dubourg, Odile Jardel, Claude Clarysse, Lucie Sternberg, Damien Fournier, Emmanuel Laforêt, Pascal Streichenberger, Nathalie Petiot, Philippe Gervais-Bernard, Hélène Vial, Christophe Bedat-Millet, Anne-Laure Drouin-Garraud, Valérie Bouillaud, Frédéric Vandier, Christophe Fontaine, Bertrand Lombès, Anne Producer: 20140116 In: Neurology vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	118.	Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients. [electronic resource] 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 Producer: 20180430 In: Scientific reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. [electronic resource] by van der Ploeg, Ans T Barohn, Richard Carlson, Lisa Charrow, Joel Clemens, Paula R Hopkin, Robert J Kishnani, Priya S Laforêt, Pascal Morgan, Claire Nations, Sharon Pestronk, Alan Plotkin, Horacio Rosenbloom, Barry E Sims, Katherine B Tsao, Elisa Producer: 20130327 In: Molecular genetics and metabolism vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	120.	Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. [electronic resource] by Laforêt, Pascal Acquaviva-Bourdain, Cécile Rigal, Odile Brivet, Michèle Penisson-Besnier, Isabelle Chabrol, Brigitte Chaigne, Denys Boespflug-Tanguy, Odile Laroche, Cécile Bedat-Millet, Anne-Laure Behin, Anthony Delevaux, Isabelle Lombès, Anne Andresen, Brage S Eymard, Bruno Vianey-Saban, Christine Producer: 20090728 In: Neuromuscular disorders : NMD vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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