Browsing by Author "Castiglioni, Claudia"

Now showing items 1-2 of 2

    • International retrospective natural history study of LMNA-related congenital muscular dystrophy 
      Yaou, Rabah Ben; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andrés; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michele; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini Bettolo, Chiara; D’Amico, Adele; Deconinck, Nicolás; Desguerre, Isabelle; Erazo Torricelli, Ricardo Pablo Javier; Gurgel Giannetti, Juliana; Ishiyama, Akihiko; Kleinsteuber, Karin S.; Lagrue, Emmanuelle; Laugel, Vincent; Mercier, Sandra; Messina, Sonia; Politano, Luisa; Ryan, Monique M.; Sabouraud, Pascal; Schara, Ulrike; Siciliano, Gabriele; Vercelli, Liliana; Voit, Thomas; Yoon, Grace; Álvarez, Rachel; Muntoni, Francesco; Pierson, Tyler M.; Gómez Andrés, David; Foley, A. Reghan; Quijano Roy, Susana; Bönnemann, Carsten G.; Bonne, Gisèle (Oxford University Press, 2021)
      Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history ...
    • Toward an objective measure of functional disability in dysferlinopathy 
      Woudt, Lisanne; Di Capua, Gabriella A.; Krahn, Martin; Castiglioni, Claudia; Hughes García, Ricardo; Campero Soffia, Mario; Trangulao, Alejandra; González Hormazabal, Patricio; Godoy Herrera, Raúl; Levy, Nicolas; Urtizberea, Jon Andoni; Jara, Lilian; Bevilacqua, Jorge (WILEY-BLACKWELL, 2016)
      Introduction: Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients ...