Browsing Artículos by Author "Casasnovas, Carlos"

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      A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases 

      Verdura, Edgard; Schlüter, Agatha; Fernández Eulate, Gorka; Ramos Martín, Raquel; Zulaica, Miren; Planas Serra, Laura; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas, Carlos; López de Munain Arregui, Adolfo José (Wiley, 2020-01)
      Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were performed using patient's DNA sample. RT-PCR and ...
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      Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome 

      Cortés Vicente, Elena; Álvarez Velasco, Rodrigo; Pla Junca, Francesc; Rojas García, Ricard; Paradas, Carmen; Sevilla, Teresa; Casasnovas, Carlos; Gómez Caravaca, María Teresa; Pardo Fernández, Julio; Ramos Fransi, Alba; Pelayo Negro, Ana Lara; Gutiérrez Gutiérrez, G.; Turón Sans, Janina; López de Munain Arregui, Adolfo José; Guerrero Sola, Antonio; Jericó, Ivonne; Martín, María Asunción; Mendoza, María Dolores; Morís de la Tassa, G.; Vélez Gómez, Beatriz; García Sobrino, Tania; Pascual Goñi, Elba; Reyes Leiva, David; Illa, Isabel; Gallardo, Eduard (Wiley, 2022-02)
      [EN] Objective: To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side effects of the drugs used for their treatment. Methods: ...