Browsing by Author "Monges, Soledad"

Now showing items 1-2 of 2

    • Dynamin 2 Mutations Cause Sporadic Centronuclear Myopathy with Neonatal Onset 
      Bitoun, Marc; Bevilacqua, Jorge; Prudhon, Bernard; Maugenre, Svetlana; Taratuto, Ana Lia; Monges, Soledad; Lubieniecki, Fabiana; Cances, Claude; Uro-Coste, Emmanuelle; Mayer, Michèle; Fardeau, Michel; Romero, Norma Beatriz; Guicheney, Pascale (Wiley-Liss, 2007-12)
      We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia with weak suckling. Thereafter, their phenotype progressively ...
    • 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 ...