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Navegación por Autor Schiava, Marianela

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openAccessGenotype_phenotype_Schiava_postprint.pdf.jpg27-jul-2022Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre studySchiava, Marianela; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta; Topf, Ana; Nishino, Ichizo; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt; Zanoteli, Edmar; Souza, Paulo Victor Sgobbi; Tasca, Giorgio; Lloyd, Thomas; López de Munain, Adolfo; Paradas, Carmen CSIC ORCID; Pegoraro, Elena; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso, Alicia CSIC ORCID; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong; Bevilacqua, Jorge Alfredo; Olivé, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Domínguez-Gonzalez, Cristina; Papadimas, George K.; Warman-Chardon, Jodi; Claeys, Kristl G.; Visser, Marianne de; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N.; Nair, Sruthi S.; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan; García-García, Jorge; Pál, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova, Velina; Peric, Stojan; Luo, Sushan; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad; Díaz-Manera, Jordi; VCP International Study Groupartículo
openAccessfeb-2023Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathyMoore, Ursula; Fernández-Simón, Esther; Schiava, Marianela; Cox, Dan; Gordish-Dressman, Heather; James, Meredith K.; Mayhew, Anna; Wilson, Ian; Guglieri, Michela; Rufibach, Laura; Blamire, Andrew; Carlier, Pierre G.; Mori-Yoshimura, Madoka; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen CSIC ORCID; Stojkovic, Tanya; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Diaz-Manera, Jordi; Straub, Volker; The Jain COS Consortiumartículo