Spinal muscular atrophy with respiratory distress type 1 (SMARD1): Report of a Spanish case with extended clinicopathological follow-up

由 San Millan, Beatriz, Fernandez, Jose M., Navarro, Carmen, Reparaz, Alfredo, Teijeira, Susana
發表在 Clin Neuropathol (2016)

Fabry disease in the Spanish population: observational study with detection of 77 patients

由 Vieitez, Irene, Souto-Rodriguez, Olga, Fernandez-Mosquera, Lorena, San Millan, Beatriz, Teijeira, Susana, Fernandez-Martin, Julian, Martinez-Sanchez, Felisa, Aldamiz-Echevarria, Luis Jose, Lopez-Rodriguez, Monica, Navarro, Carmen, Ortolano, Saida
發表在 Orphanet J Rare Dis (2018)

Erratum to: Knecht E, Criado-García O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, et al. Malin knockout mice support a primary role of autophagy in the pathogenesis of...

由 Knecht, Erwin, Criado-García, Olga, Aguado, Carmen, Gayarre, Javier, Duran-Trio, Lara, Garcia-Cabrero, Ana M., Vernia, Santiago, San Millán, Beatriz, Heredia, Miguel, Romá-Mateo, Carlos, Mouron, Silvana, Juana-López, Lucía, Domínguez, Mercedes, Navarro, Carmen, Serratosa, Jose M., Sanchez, Marina, Sanz, Pascual, Bovolenta, Paola, Rodríguez de Córdoba, Santiago
出版 2012

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

由 Scalco, Renata S., Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Voermans, Nicol C., Kouwenberg, Carlyn V., Laforêt, Pascal, San-Millán, Beatriz, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebeca, Sacconi, Sabrina, Stemmerik, Mads G., Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L., Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John
發表在 Orphanet J Rare Dis (2020)