Browsing by Author "XX676613"

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    • Calpainopathy in Chile, first cases reported 
      Bevilacqua, Jorge; Mathieu, Y.; Krahn, M.; Bartoli, M.; Castiglioni, C.; Kleinsteuber Saa, Karin; Díaz Jeraldo, Juan; Puppo, F.; Cerino, M.; Courrier, S.; Gorokhova, S.; Miranda Moreno, Natalia; Trangulao, Alejandra; González Hormazábal, Patricio; Avaria Benapres, María de los Angeles; Urtizberea, J.; Caviedes Fernández, Pablo; Jara Sosa, Lilian; Levy, N. (Pergamon-Elsevier Science, 2016)
    • Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies 
      Dabaj, I.; Ben Yaou, R.; Bonnemann, C.; Nascimento, A.; Rutkowski, A.; Erazo Torricelli, R.; Muntoni, F.; Lagrue, E.; Dowling, J.; Bushby, K.; Casteglioni, C.; Kleinsteuber Saa, Karin; Lorenzo, M.; Ishiyama, A.; Sejersen, T.; Gurgel Giannetti, J.; Monges, S.; Bonne, G.; Quijano roy, S. (Elsevier, 2017)
    • Myotonic dystrophy in a female with myasthenia gravis 
      Avaria, María de los Angeles; Kleinsteuber Saa, Karin; Novoa, Fernando; Faúndez, Paola; Carvallo, Pilar (2007)
      The likelihood of coexistence in the same patient of myasthenia gravis and myotonic dystrophy has been estimated at I in 40 million. The case of a patient in whom both diagnoses were made is reported here. A 13-year-old ...
    • Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant 
      Ávila Smirnow, Daniela; Vargas Leal, Carmen; Beytía Reyes, María de los Ángeles; Cortés Zepeda, Rocío; Escobar, Raúl G.; Kleinsteuber Saa, Karin; Lagos Lucero, Marcela; Avaria Benapres, María de los Ángeles; Padilla Pérez, Oslando; Casar Leturia, Juan Carlos; Mellado Sagredo, Cecilia; Sternberg, Damien (Elsevier, 2020)
      Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1 . Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A , is a relatively less frequent but ...