Bibliotecas PUC-SP - Busca Integrada

Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a quali...

av Mencía de Lemus, Maria G. Cattinari, Samuel I. Pascual, Julita Medina, Mar García, Ana Magallón, María Dumont, Pablo Rebollo
I publikationen Journal of Patient-Reported Outcomes (2024-07-01)

Molecular diagnosis of limb-girdle muscular dystrophy type 2A by next-generation sequencing

av Clara Gómez-González, Maria Isabel Esteban-Rodríguez, Yolanda Ruano, Elena Vallespín, Pablo Lapunzina, Paloma Martínez, Samuel I Pascual, Jesús Molano, Carmen Prior
I publikationen Annals of Indian Academy of Neurology (2017-01-01)

Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.

av Beatriz Soldevilla, Carmen Cuevas-Martín, Clara Ibáñez, Fulvio Santacatterina, María A Alberti, Carolina Simó, Carlos Casasnovas, Celedonio Márquez-Infante, Teresa Sevilla, Samuel I Pascual, María Sánchez-Aragó, Carmen Espinos, Francesc Palau, José M Cuezva
I publikationen PLoS ONE (2017-01-01)