תוצאות חיפוש - Labasse, Clémence

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD מאת Garibaldi, Matteo, Fattori, Fabiana, Bortolotti, Carlo Augusto, Brochier, Guy, Labasse, Clemence, Verardo, Margherita, Servian-Morilla, Emilia, Gibellini, Lara, Pinti, Marcello, Di Rocco, Giulia, Raffa, Salvatore, Pennisi, Elena Maria, Bertini, Enrico Silvio, Paradas, Carmen, Romero, Norma Beatriz, Antonini, Giovanni

קבל טקסט מלא קבל טקסט מלא קבל טקסט מלא

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies מאת Garibaldi, Matteo, Rendu, John, Brocard, Julie, Lacene, Emmanuelle, Fauré, Julien, Brochier, Guy, Beuvin, Maud, Labasse, Clemence, Madelaine, Angeline, Malfatti, Edoardo, Bevilacqua, Jorge Alfredo, Lubieniecki, Fabiana, Monges, Soledad, Taratuto, Ana Lia, Laporte, Jocelyn, Marty, Isabelle, Antonini, Giovanni, Romero, Norma Beatriz

קבל טקסט מלא קבל טקסט מלא קבל טקסט מלא

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

קבל טקסט מלא קבל טקסט מלא קבל טקסט מלא

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD) מאת Lornage, Xavière, Romero, Norma B., Grosgogeat, Claire A., Malfatti, Edoardo, Donkervoort, Sandra, Marchetti, Michael M., Neuhaus, Sarah B., Foley, A. Reghan, Labasse, Clémence, Schneider, Raphaël, Carlier, Robert Y., Chao, Katherine R., Medne, Livija, Deleuze, Jean-François, Orlikowski, David, Bönnemann, Carsten G., Gupta, Vandana A., Fardeau, Michel, Böhm, Johann, Laporte, Jocelyn

קבל טקסט מלא קבל טקסט מלא קבל טקסט מלא

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment מאת 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, Petit, François, Schoser, Benedikt, Oldfors, Anders, Vissing, John, Romero, Norma B., Nishino, Ichizo, Malfatti, Edoardo

קבל טקסט מלא קבל טקסט מלא קבל טקסט מלא

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies מאת Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John, Monges, Soledad, Biancalana, Valérie, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud, Amthor, Helge, Servais, Laurent, de Feraudy, Yvan, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Bello, Ana Buj, Laing, Nigel, Evangelista, Teresinha, Laporte, Jocelyn, Böhm, Johann, Romero, Norma B.

קבל טקסט מלא קבל טקסט מלא קבל טקסט מלא