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	1.	Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia. [electronic resource] by Pinto, Miguel M Monges, Soledad Malfatti, Edoardo Lubieniecki, Fabiana Lornage, Xavière Alias, Laura Labasse, Clémence Madelaine, Angéline Fardeau, Michel Laporte, Jocelyn Tizzano, Eduardo F Romero, Norma B Producer: 20190528 In: Muscle & nerve vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD. [electronic resource] by 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 Producer: 20190606 In: Acta neuropathologica communications vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. [electronic resource] by 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 Producer: 20200402 In: Acta neuropathologica communications vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). [electronic resource] by 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 Producer: 20200420 In: Acta neuropathologica vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease. [electronic resource] 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 Producer: 20171120 In: eLife vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. [electronic resource] by Ávila-Polo, Rainiero Malfatti, Edoardo Lornage, Xavière Cheraud, Chrystel Nelson, Isabelle Nectoux, Juliette Böhm, Johann Schneider, Raphaël Hedberg-Oldfors, Carola Eymard, Bruno Monges, Soledad Lubieniecki, Fabiana Brochier, Guy Thao Bui, Mai Madelaine, Angeline Labasse, Clémence Beuvin, Maud Lacène, Emmanuelle Boland, Anne Deleuze, Jean-François Thompson, Julie Richard, Isabelle Taratuto, Ana Lía Udd, Bjarne Leturcq, France Bonne, Gisèle Oldfors, Anders Laporte, Jocelyn Romero, Norma Beatriz Producer: 20191003 In: Journal of neuropathology and experimental neurology vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. [electronic resource] by Schartner, Vanessa Romero, Norma B Donkervoort, Sandra Treves, Susan Munot, Pinki Pierson, Tyler Mark Dabaj, Ivana Malfatti, Edoardo Zaharieva, Irina T Zorzato, Francesco Abath Neto, Osorio Brochier, Guy Lornage, Xavière Eymard, Bruno Taratuto, Ana Lía Böhm, Johann Gonorazky, Hernan Ramos-Platt, Leigh Feng, Lucy Phadke, Rahul Bharucha-Goebel, Diana X Sumner, Charlotte Jane Bui, Mai Thao Lacene, Emmanuelle Beuvin, Maud Labasse, Clémence Dondaine, Nicolas Schneider, Raphael Thompson, Julie Boland, Anne Deleuze, Jean-François Matthews, Emma Pakleza, Aleksandra Nadaj Sewry, Caroline A Biancalana, Valérie Quijano-Roy, Susana Muntoni, Francesco Fardeau, Michel Bönnemann, Carsten G Laporte, Jocelyn Producer: 20170912 In: Acta neuropathologica vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)