Expression of myogenic regulatory factors and myo-endothelial remodeling in sporadic inclusion body myositis

by Wanschitz, Julia V., Dubourg, Odile, Lacene, Emmanuelle, Fischer, Michael B., Höftberger, Romana, Budka, Herbert, Romero, Norma B., Eymard, Bruno, Herson, Serge, Butler-Browne, Gillian S., Voit, Thomas, Benveniste, Olivier
Published 2013

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

by Romero, Norma B, Xie, Ting, Malfatti, Edoardo, Schaeffer, Ursula, Böhm, Johann, Wu, Bin, Xu, Fengping, Boucebci, Samy, Mathis, Stéphane, Neau, Jean-Philippe, Monnier, Nicole, Fardeau, Michel, Laporte, Jocelyn
Published 2014

An Integrated Diagnosis Strategy for Congenital Myopathies

by Böhm, Johann, Vasli, Nasim, Malfatti, Edoardo, Le Gras, Stéphanie, Feger, Claire, Jost, Bernard, Monnier, Nicole, Brocard, Julie, Karasoy, Hatice, Gérard, Marion, Walter, Maggie C., Reilich, Peter, Biancalana, Valérie, Kretz, Christine, Messaddeq, Nadia, Marty, Isabelle, Lunardi, Joël, Romero, Norma B., Laporte, Jocelyn
Published 2013

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

by Guarani, Virginia, Jardel, Claude, Chrétien, Dominique, Lombès, Anne, Bénit, Paule, Labasse, Clémence, Lacène, Emmanuelle, Bourillon, Agnès, Imbard, Apolline, Benoist, Jean-François, Dorboz, Imen, Gilleron, Mylène, Goetzman, Eric S, Gaignard, Pauline, Slama, Abdelhamid, Elmaleh-Bergès, Monique, Romero, Norma B, Rustin, Pierre, Ogier de Baulny, Hélène, Paulo, Joao A, Harper, J Wade, Schiff, Manuel
Published 2016

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

by Malfatti, Edoardo, Lehtokari, Vilma-Lotta, Böhm, Johann, De Winter, Josine M, Schäffer, Ursula, Estournet, Brigitte, Quijano-Roy, Susana, Monges, Soledad, Lubieniecki, Fabiana, Bellance, Remi, Viou, Mai Thao, Madelaine, Angéline, Wu, Bin, Taratuto, Ana Lía, Eymard, Bruno, Pelin, Katarina, Fardeau, Michel, Ottenheijm, Coen AC, Wallgren-Pettersson, Carina, Laporte, Jocelyn, Romero, Norma B
Published 2014

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

by Todd, Emily J., Yau, Kyle S., Ong, Royston, Slee, Jennie, McGillivray, George, Barnett, Christopher P., Haliloglu, Goknur, Talim, Beril, Akcoren, Zuhal, Kariminejad, Ariana, Cairns, Anita, Clarke, Nigel F., Freckmann, Mary-Louise, Romero, Norma B., Williams, Denise, Sewry, Caroline A, Colley, Alison, Ryan, Monique M., Kiraly-Borri, Cathy, Sivadorai, Padma, Allcock, Richard J.N., Beeson, David, Maxwell, Susan, Davis, Mark R., Laing, Nigel G., Ravenscroft, Gianina
Published 2015

Anti-HMGCR Autoantibodies in European Patients With Autoimmune Necrotizing Myopathies: Inconstant Exposure to Statin

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
Published 2014