1. Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy. (7th April 2017) Authors: Sirisi, Sònia; Elorza-Vidal, Xabier; Arnedo, Tanit; Armand-Ugón, Mercedes; Callejo, Gerard; Capdevila-Nortes, Xavier; López-Hernández, Tania; Schulte, Uwe; Barrallo-Gimeno, Alejandro; Nunes, Virginia; Gasull, Xavier; Estévez, Raúl Journal: Human molecular genetics Issue: Volume 26:Number 13(2017:Jul. 01) Page Start: 2436 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins. Issue 17 (7th June 2021) Authors: Alonso-Gardón, Marta; Elorza-Vidal, Xabier; Castellanos, Aida; La Sala, Gina; Armand-Ugon, Mercedes; Gilbert, Alice; Di Pietro, Chiara; Pla-Casillanis, Adrià; Ciruela, Francisco; Gasull, Xavier; Nunes, Virginia; Martínez, Albert; Schulte, Uwe; Cohen-Salmon, Martine; Marazziti, Daniela; Estévez, Raúl Journal: Human molecular genetics Issue: Volume 30:Issue 17(2021) Page Start: 1649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia. Issue 7 (1st June 2017) Authors: Astuti, Dewi; Sabir, Ataf; Fulton, Piers; Zatyka, Malgorzata; Williams, Denise; Hardy, Carol; Milan, Gabriella; Favaretto, Francesca; Yu‐Wai‐Man, Patrick; Rohayem, Julia; López de Heredia, Miguel; Hershey, Tamara; Tranebjaerg, Lisbeth; Chen, Jian‐Hua; Chaussenot, Annabel; Nunes, Virginia; Marshal... Journal: Human mutation Issue: Volume 38:Issue 7(2017) Page Start: 764 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients. Issue 4 (5th March 2014) Authors: García‐Cazorla, Angels; Oyarzabal, Alfonso; Fort, Joana; Robles, Concepción; Castejón, Esperanza; Ruiz‐Sala, Pedro; Bodoy, Susanna; Merinero, Begoña; Lopez‐Sala, Anna; Dopazo, Joaquín; Nunes, Virginia; Ugarte, Magdalena; Artuch, Rafael; Palacín, Manuel; Rodríguez‐Pombo, Pilar; Alcaide, Patricia; ... Journal: Human mutation Issue: Volume 35:Issue 4(2014:Apr.) Page Start: 470 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗