Search Results - "Urtizberea, Jon A."

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) by Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, Stramare, Roberto, Scheidegger, Olivier, Haberlova, Jana, Straub, Volker, Marini-Bettolo, Chiara, Løkken, Nicoline, Diaz-Manera, Jordi, Urtizberea, Jon A., Mercuri, Eugenio, Kynčl, Martin, Walter, Maggie C., Carlier, Robert Y.

“…Background Limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) is a progressive myopathy caused by deficiency of calpain 3, a calcium-dependent cysteine…”
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C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy by Carmignac, Virginie, Salih, Mustafa A. M., Quijano-Roy, Susana, Marchand, Sylvie, Al Rayess, Molham M., Mukhtar, Maowia M., Urtizberea, Jon A., Labeit, Siegfried, Guicheney, Pascale, Leturcq, France, Gautel, Mathias, Fardeau, Michel, Campbell, Kevin P., Richard, Isabelle, Estournet, Brigitte, Ferreiro, Ana

“…Objective The giant protein titin is essential for striated muscle development, structure, and elasticity. All titin mutations reported to date cause…”
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Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13 by Viollet, Louis, Barois, Annie, Rebeiz, Jean G., Rifai, Ziad, Burlet, Philippe, Zarhrate, Mohammed, Vial, Elodie, Dessainte, Michel, Estournet, Brigitte, Kleinknecht, Bernard, Pearn, John, Adams, Raymond D., Urtizberea, Jon A., Cros, Didier P., Bushby, Kate, Munnich, Arnold, Lefebvre, Suzie

“…Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior horn cell degeneration and characterized by…”
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