Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Pilar Rubio Sánchez"'
Autor:
Ana Victoria Marco-Hernández, Alfonso Caro-Llopis, Pilar Rubio Sánchez, Juan Carlos Martínez Martínez, Miguel Tomás Vila, Sandra Monfort, Francisco Martínez
Publikováno v:
Journal of Child Neurology. 37:340-350
Background Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in the SCN1A gene. Methods The study was carried out in 15 patients with SCN1A variants. The complete phenotype of the patients was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80bfdd1e0b121c947deba31afb05a3e0
https://doi.org/10.1177/08830738211072694
https://doi.org/10.1177/08830738211072694
Autor:
Esperanza González-Bono, Vicente Villanueva, Alejandro Lozano-García, Mercedes Garcés-Sánchez, Fernando Aparici-Robles, Pilar Rubio-Sánchez, Irene Cano-López, Kevin G. Hampel
Publikováno v:
Acta Neurologica Scandinavica. 144:585-591
Background Anti-seizure medications (ASMs) have been related to poor cognitive function, but their relationship with intracarotid amobarbital procedure (IAP) results remains unclear. Aims of the study To elucidate whether the number and drug load of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0612209653e37706cdee14c0129ea530
https://doi.org/10.1111/ane.13491
https://doi.org/10.1111/ane.13491
Autor:
Ana Victoria, Marco-Hernández, Alfonso, Caro-Llopis, Pilar, Rubio Sánchez, Juan Carlos, Martínez Martínez, Miguel, Tomás Vila, Sandra, Monfort, Francisco, Martínez
Publikováno v:
Journal of child neurology. 37(5)
Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in theThe study was carried out in 15 patients withTen patients showed a missense variant, whereas the remaining showed different loss-of-func
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c42d69e66b5e760fa42ca2a9101745e8
https://pubmed.ncbi.nlm.nih.gov/35072530
https://pubmed.ncbi.nlm.nih.gov/35072530