1. A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy. (October 2019) Authors: Fernández-Marmiesse, Ana; Sánchez-Iglesias, Sofía; Darling, Alejandra; O'Callaghan, María M.; Tonda, Raúl; Jou, Cristina; Araújo-Vilar, David Journal: Seizure Issue: Volume 71(2019) Page Start: 161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Exome-wide rare variant analysis in familial essential tremor. (January 2021) Authors: Diez-Fairen, Monica; Houle, Gabrielle; Ortega-Cubero, Sara; Bandres-Ciga, Sara; Alvarez, Ignacio; Carcel, Maria; Ibañez, Laura; Fernandez, Maria Victoria; Budde, John P.; Trotta, Jean-Rémi; Tonda, Raúl; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Aguilar, Miquel; Tartari, Juan ... Journal: Parkinsonism & related disorders Issue: Volume 82(2021) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). (20th November 2018) Authors: Genis, David; Ortega-Cubero, Sara; San Nicolás, Hector; Corral, Jordi; Gardenyes, Josep; de Jorge, Laura; López, Eva; Campos, Berta; Lorenzo, Elena; Tonda, Raúl; Beltran, Sergi; Negre, Montserrat; Obón, María; Beltran, Brigitte; Fàbregas, Laura; Alemany, Berta; Márquez, Fabián; Ramió-Torrentà, Ll... Journal: Neurology Issue: Volume 91:Number 21(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗