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	141.	Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study. [electronic resource] by Pena, Loren D M Barohn, Richard J Byrne, Barry J Desnuelle, Claude Goker-Alpan, Ozlem Ladha, Shafeeq Laforêt, Pascal Mengel, Karl Eugen Pestronk, Alan Pouget, Jean Schoser, Benedikt Straub, Volker Trivedi, Jaya Van Damme, Philip Vissing, John Young, Peter Kacena, Katherine Shafi, Raheel Thurberg, Beth L Culm-Merdek, Kerry van der Ploeg, Ans T Producer: 20200601 In: Neuromuscular disorders : NMD vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	142.	Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. [electronic resource] 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 Fauré, Julien Weis, Joachim Mandel, Jean-Louis Romero, Norma B Laporte, Jocelyn Producer: 20150318 In: Brain : a journal of neurology vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	143.	High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations. [electronic resource] by Thevenon, Julien Laurent, Gabriel Ader, Flavie Laforêt, Pascal Klug, Didier Duva Pentiah, Anju 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 Thauvin-Robinet, Christel Faivre, Laurence Bouvagnet, Patrice Charron, Philippe Richard, Pascale Producer: 20180110 In: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	144.	Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity. [electronic resource] by Claeys, Kristl G Pellissier, Jean-François Garcia-Bragado, Federico Weis, Joachim Urtizberea, Andoni Poza, Juan-Jose Cobo, Ana-Maria Stoltenburg, Gisela Figarella-Branger, Dominique Willems, Patrick J Depuydt, Christophe E Kleiner, Wolfgang Pouget, Jean Piraud, Monique Brochier, Guy Romero, Norma B Fardeau, Michel Goebel, Hans H Bönnemann, Carsten G Voit, Thomas Eymard, Bruno Laforêt, Pascal Producer: 20110121 In: Neuromuscular disorders : NMD vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	145.	High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody. [electronic resource] 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 Fain, Olivier Meyer, Alain Schleinitz, Nicolas Mariampillai, Kuberaka Grados, Aurelie Benveniste, Olivier Producer: 20170605 In: Brain : a journal of neurology vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	146.	The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study. [electronic resource] by Querin, Giorgia El Mendili, Mohamed-Mounir Lenglet, Timothée Behin, Anthony Stojkovic, Tanya Salachas, François Devos, David Le Forestier, Nadine Del Mar Amador, Maria Debs, Rabab Lacomblez, Lucette Meininger, Vincent Bruneteau, Gaëlle Cohen-Adad, Julien Lehéricy, Stéphane Laforêt, Pascal Blancho, Sophie Benali, Habib Catala, Martin Li, Menghan Marchand-Pauvert, Véronique Hogrel, Jean-Yves Bede, Peter Pradat, Pierre-François Producer: 20191211 In: NeuroImage. Clinical vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	147.	Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. [electronic resource] 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 Kakhlon, Or Gomori, J Moshe van der Knaap, Marjo S Lossos, Alexander Producer: 20121214 In: Annals of neurology vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	148.	Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase. [electronic resource] by Puzzo, Francesco Colella, Pasqualina Biferi, Maria G Bali, Deeksha Paulk, Nicole K Vidal, Patrice Collaud, Fanny Simon-Sola, Marcelo Charles, Severine Hardet, Romain Leborgne, Christian Meliani, Amine Cohen-Tannoudji, Mathilde Astord, Stephanie Gjata, Bernard Sellier, Pauline van Wittenberghe, Laetitia Vignaud, Alban Boisgerault, Florence Barkats, Martine Laforet, Pascal Kay, Mark A Koeberl, Dwight D Ronzitti, Giuseppe Mingozzi, Federico Producer: 20180717 In: Science translational medicine vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	149.	Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. [electronic resource] by Michot, Caroline Hubert, Laurence Romero, Norma B Gouda, Amr Mamoune, Asmaa Mathew, Suja Kirk, Edwin Viollet, Louis Rahman, Shamima Bekri, Soumeya Peters, Heidi McGill, James Glamuzina, Emma Farrar, Michelle von der Hagen, Maya Alexander, Ian E Kirmse, Brian Barth, Magalie Laforet, Pascal Benlian, Pascale Munnich, Arnold JeanPierre, Marc Elpeleg, Orly Pines, Ophry Delahodde, Agnès de Keyzer, Yves de Lonlay, Pascale Producer: 20130405 In: Journal of inherited metabolic disease vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	150.	Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. [electronic resource] by Bauché, Stéphanie Vellieux, Geoffroy Sternberg, Damien Fontenille, Marie-Joséphine De Bruyckere, Elodie Davoine, Claire-Sophie Brochier, Guy Messéant, Julien Wolf, Lucie Fardeau, Michel Lacène, Emmanuelle Romero, Norma Koenig, Jeanine Fournier, Emmanuel Hantaï, Daniel Streichenberger, Nathalie Manel, Veronique Lacour, Arnaud Nadaj-Pakleza, Aleksandra Sukno, Sylvie Bouhour, Françoise Laforêt, Pascal Fontaine, Bertrand Strochlic, Laure Eymard, Bruno Chevessier, Frédéric Stojkovic, Tanya Nicole, Sophie Producer: 20180418 In: Journal of neurology vol. 264 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	151.	A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. [electronic resource] 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 Lemoine, François M Klatzmann, David Sweeney, H Lee Mulligan, Richard C Eymard, Bruno Caizergues, Didier Voït, Thomas Benveniste, Olivier Producer: 20120427 In: Brain : a journal of neurology vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	152.	FSHD1 and FSHD2 form a disease continuum. [electronic resource] by Sacconi, Sabrina Briand-Suleau, Audrey Gros, Marilyn Baudoin, Christian Lemmers, Richard J L F Rondeau, Sophie Lagha, Nadira Nigumann, Pilvi Cambieri, Chiara Puma, Angela Chapon, Françoise Stojkovic, Tanya Vial, Christophe Bouhour, Françoise Cao, Michelangelo Pegoraro, Elena Petiot, Philippe Behin, Anthony Marc, Bras Eymard, Bruno Echaniz-Laguna, Andoni Laforet, Pascal Salviati, Leonardo Jeanpierre, Marc Cristofari, Gaël van der Maarel, Silvère M Producer: 20191218 In: Neurology vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	153.	Hereditary myopathy with early respiratory failure: occurrence in various populations. [electronic resource] by Palmio, Johanna Evilä, Anni Chapon, Françoise Tasca, Giorgio Xiang, Fengqing Brådvik, Björn Eymard, Bruno Echaniz-Laguna, Andoni Laporte, Jocelyn Kärppä, Mikko Mahjneh, Ibrahim Quinlivan, Rosaline Laforêt, Pascal Damian, Maxwell Berardo, Andres Taratuto, Ana Lia Bueri, Jose Antonio Tommiska, Johanna Raivio, Taneli Tuerk, Matthias Gölitz, Philipp Chevessier, Frederic Sewry, Caroline Norwood, Fiona Hedberg, Carola Schröder, Rolf Edström, Lars Oldfors, Anders Hackman, Peter Udd, Bjarne Producer: 20140403 In: Journal of neurology, neurosurgery, and psychiatry vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	154.	Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α. [electronic resource] by Kishnani, Priya Tarnopolsky, Mark Roberts, Mark Sivakumar, Kumarswamy Dasouki, Majed Dimachkie, Mazen M Finanger, Erika Goker-Alpan, Ozlem Guter, Karl A Mozaffar, Tahseen Pervaiz, Muhammad Ali Laforet, Pascal Levine, Todd Adera, Matthews Lazauskas, Richard Sitaraman, Sheela Khanna, Richie Benjamin, Elfrida Feng, Jessie Flanagan, John J Barth, Jay Barlow, Carrolee Lockhart, David J Valenzano, Kenneth J Boudes, Pol Johnson, Franklin K Byrne, Barry Producer: 20180219 In: Molecular therapy : the journal of the American Society of Gene Therapy vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	155.	A randomized study of alglucosidase alfa in late-onset Pompe's disease. [electronic resource] by van der Ploeg, Ans T Clemens, Paula R Corzo, Deyanira Escolar, Diana M Florence, Julaine Groeneveld, Geert Jan Herson, Serge Kishnani, Priya S Laforet, Pascal Lake, Stephen L Lange, Dale J Leshner, Robert T Mayhew, Jill E Morgan, Claire Nozaki, Kenkichi Park, Dorothy J Pestronk, Alan Rosenbloom, Barry Skrinar, Alison van Capelle, Carine I van der Beek, Nadine A Wasserstein, Melissa Zivkovic, Sasa A Producer: 20100422 In: The New England journal of medicine vol. 362 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	156.	Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin. [electronic resource] by Allenbach, Yves Drouot, Laurent Rigolet, Aude Charuel, Jean Luc Jouen, Fabienne Romero, Norma B Maisonobe, Thierry Dubourg, Odile Behin, Anthony Laforet, Pascal Stojkovic, Tania Eymard, Bruno Costedoat-Chalumeau, Nathalie Campana-Salort, Emmanuelle Tournadre, Anne Musset, Lucile Bader-Meunier, Brigitte Kone-Paut, Isabelle Sibilia, Jean Servais, Laurent Fain, Olivier Larroche, Claire Diot, Elisabeth Terrier, Benjamin De Paz, Raphael Dossier, Antoine Menard, Dominique Morati, Chafika Roux, Marielle Ferrer, Xavier Martinet, Jeremie Besnard, Sophie Bellance, Remi Cacoub, Patrice Arnaud, Laurent Grosbois, Bernard Herson, Serge Boyer, Olivier Benveniste, Olivier Producer: 20140617 In: Medicine vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	157.	Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. [electronic resource] by Biancalana, Valérie Scheidecker, Sophie Miguet, Marguerite Laquerrière, Annie Romero, Norma B Stojkovic, Tanya Abath Neto, Osorio Mercier, Sandra Voermans, Nicol Tanner, Laura Rogers, Curtis Ollagnon-Roman, Elisabeth Roper, Helen Boutte, Célia Ben-Shachar, Shay Lornage, Xavière Vasli, Nasim Schaefer, Elise Laforet, Pascal Pouget, Jean Moerman, Alexandre Pasquier, Laurent Marcorelle, Pascale Magot, Armelle Küsters, Benno Streichenberger, Nathalie Tranchant, Christine Dondaine, Nicolas Schneider, Raphael Gasnier, Claire Calmels, Nadège Kremer, Valérie Nguyen, Karine Perrier, Julie Kamsteeg, Erik Jan Carlier, Pierre Carlier, Robert-Yves Thompson, Julie Boland, Anne Deleuze, Jean-François Fardeau, Michel Zanoteli, Edmar Eymard, Bruno Laporte, Jocelyn Producer: 20180613 In: Acta neuropathologica vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	158.	Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study. [electronic resource] by Dogan, Celine De Antonio, Marie Hamroun, Dalil Varet, Hugo Fabbro, Marianne Rougier, Felix Amarof, Khadija Arne Bes, Marie-Christine Bedat-Millet, Anne-Laure Behin, Anthony Bellance, Remi Bouhour, Françoise Boutte, Celia Boyer, François Campana-Salort, Emmanuelle Chapon, Françoise Cintas, Pascal Desnuelle, Claude Deschamps, Romain Drouin-Garraud, Valerie Ferrer, Xavier Gervais-Bernard, Helene Ghorab, Karima Laforet, Pascal Magot, Armelle Magy, Laurent Menard, Dominique Minot, Marie-Christine Nadaj-Pakleza, Aleksandra Pellieux, Sybille Pereon, Yann Preudhomme, Marguerite Pouget, Jean Sacconi, Sabrina Sole, Guilhem Stojkovich, Tanya Tiffreau, Vincent Urtizberea, Andoni Vial, Christophe Zagnoli, Fabien Caranhac, Gilbert Bourlier, Claude Riviere, Gerard Geille, Alain Gherardi, Romain K Eymard, Bruno Puymirat, Jack Katsahian, Sandrine Bassez, Guillaume Producer: 20160711 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	159.	Multiple phenotypes in phosphoglucomutase 1 deficiency. [electronic resource] by Tegtmeyer, Laura C Rust, Stephan van Scherpenzeel, Monique Ng, Bobby G Losfeld, Marie-Estelle Timal, Sharita Raymond, Kimiyo He, Ping Ichikawa, Mie Veltman, Joris Huijben, Karin Shin, Yoon S Sharma, Vandana Adamowicz, Maciej Lammens, Martin Reunert, Janine Witten, Anika Schrapers, Esther Matthijs, Gert Jaeken, Jaak Rymen, Daisy Stojkovic, Tanya Laforêt, Pascal Petit, François Aumaître, Olivier Czarnowska, Elzbieta Piraud, Monique Podskarbi, Teodor Stanley, Charles A Matalon, Reuben Burda, Patricie Seyyedi, Soraya Debus, Volker Socha, Piotr Sykut-Cegielska, Jolanta van Spronsen, Francjan de Meirleir, Linda Vajro, Pietro DeClue, Terry Ficicioglu, Can Wada, Yoshinao Wevers, Ron A Vanderschaeghe, Dieter Callewaert, Nico Fingerhut, Ralph van Schaftingen, Emile Freeze, Hudson H Morava, Eva Lefeber, Dirk J Marquardt, Thorsten Producer: 20140211 In: The New England journal of medicine vol. 370 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	160.	Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy. [electronic resource] by Alonso-Jimenez, Alicia Kroon, Rosemarie H M J M Alejaldre-Monforte, Aida Nuñez-Peralta, Claudia Horlings, Corinne G C van Engelen, Baziel G M Olivé, Montse González, Laura Verges-Gil, Enric Paradas, Carmen Márquez, Celedonio Garibaldi, Matteo Gallano, Pía Rodriguez, Maria José Gonzalez-Quereda, Lidia Dominguez Gonzalez, Cristina Vissing, John Fornander, Freja Eisum, Anne-Sofie Vibæk García-Sobrino, Tania Pardo, Julio García-Figueiras, Roberto Muelas, Nuria Vilchez, Juan Jesús Kapetanovic, Solange Tasca, Giorgio Monforte, Mauro Ricci, Enzo Gomez, María Teresa Bevilacqua, Jorge Alfredo Diaz-Jara, Jorge Zamorano, Ivonne Ingrid Carlier, Robert Yves Laforet, Pascal Pelayo-Negro, Ana Ramos-Fransi, Alba Martínez, Amaia Marini-Bettolo, Chiara Straub, Volker Gutiérrez, Gerardo Stojkovic, Tanya Martín, María Asunción Morís, Germán Fernández-Torrón, Roberto Lopez De Munaín, Adolfo Cortes-Vicente, Elena Querol, Luis Rojas-García, Ricardo Illa, Isabel Diaz-Manera, Jordi Producer: 20200319 In: Journal of neurology, neurosurgery, and psychiatry vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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