1. De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy. Issue 2 (5th December 2022) Authors: Salpietro, Vincenzo; Galassi Deforie, Valentina; Efthymiou, Stephanie; O'Connor, Emer; Marcé‐Grau, Anna; Maroofian, Reza; Striano, Pasquale; Zara, Federico; Morrow, Michelle M.; Reich, Adi; Blevins, Amy; Sala‐Coromina, Júlia; Accogli, Andrea; Fortuna, Sara; Alesandrini, Marie; Au, P. Y. Billie; S... Journal: Epilepsia Issue: Volume 64:Issue 2(2023) Page Start: 443 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. Issue 2 (16th August 2020) Authors: Marti‐Sanchez, Laura; Baide‐Mairena, Heidy; Marcé‐Grau, Anna; Pons, Roser; Skouma, Anastasia; López‐Laso, Eduardo; Sigatullina, Maria; Rizzo, Cristiano; Semeraro, Michela; Martinelli, Diego; Carrozzo, Rosalba; Dionisi‐Vici, Carlo; González‐Gutiérrez‐Solana, Luis; Correa‐Vela, Marta; Ortigoza‐Esco... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 2(2021) Page Start: 401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Early recognition of SGCE‐myoclonus–dystonia in children. (20th June 2022) Authors: Correa‐Vela, Marta; Carvalho, Joao; Ferrero‐Turrion, Julia; Cazurro‐Gutiérrez, Ana; Vanegas, Maria; Gonzalez, Victoria; Alvárez, Ramiro; Marcé‐Grau, Anna; Moreno, Antonio; Macaya‐Ruiz, Alfons; Pérez‐Dueñas, Belén Journal: Developmental medicine & child neurology Issue: Volume 65:Number 2(2023) Page Start: 207 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies. Issue 4 (24th June 2019) Authors: Marcé‐Grau, Anna; Martí‐Sánchez, Laura; Baide‐Mairena, Heidy; Ortigoza‐Escobar, Juan D.; Pérez‐Dueñas, Belén Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 4(2019) Page Start: 581 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic diagnosis of basal ganglia disease in childhood. (5th January 2022) Authors: Baide‐Mairena, Heidy; Marti‐Sánchez, Laura; Marcé‐Grau, Anna; Cazurro‐Gutiérrez, Ana; Sanchez‐Montanez, Angel; Delgado, Ignacio; Moreno‐Galdó, Antonio; Macaya‐Ruiz, Alfons; García‐Arumí, Elena; Pérez‐Dueñas, Belén Journal: Developmental medicine & child neurology Issue: Volume 64:Number 6(2022) Page Start: 743 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy. (26th November 2018) Authors: Gomis‐Pérez, Carolina; Urrutia, Janire; Marcé‐Grau, Anna; Malo, Covadonga; López‐Laso, Eduardo; Felipe‐Rucián, Ana; Raspall‐Chaure, Miquel; Macaya, Alfons; Villarroel, Alvaro Journal: Epilepsia Issue: Volume 60:issue 1(2019) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect. Issue 8 (6th August 2020) Authors: Correa‐Vela, Marta; Lupo, Vincenzo; Montpeyó, Marta; Sancho, Paula; Marcé‐Grau, Anna; Hernández‐Vara, Jorge; Darling, Alejandra; Jenkins, Alison; Fernández‐Rodríguez, Sandra; Tello, Cristina; Ramírez‐Jiménez, Laura; Pérez, Belén; Sánchez‐Montáñez, Ángel; Macaya, Alfons; Sobrido, María J.; Martine... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 8(2020) Page Start: 1436 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy. Issue 10 (10th July 2021) Authors: Marcé‐Grau, Anna; Elorza‐Vidal, Xabier; Pérez‐Rius, Carla; Ruiz‐Nel·lo, Anna; Sala‐Coromina, Júlia; Gabau, Elisabet; Estévez, Raúl; Macaya, Alfons Journal: Human mutation Issue: Volume 42:Issue 10(2021) Page Start: 1215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. PRKRA‐Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum. Issue 4 (19th February 2021) Authors: Masnada, Silvia; Martinelli, Diego; Correa‐Vela, Marta; Agolini, Emanuele; Baide‐Mairena, Heidy; Marcé‐Grau, Anna; Parazzini, Cecilia; Veggiotti, Pierangelo; Perez‐Duenas, Belen; Tonduti, Davide Journal: Movement disorders Issue: Volume 36:Issue 4(2021) Page Start: 1038 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders. Issue 11 (25th August 2022) Authors: Pérez‐Dueñas, Belén; Gorman, Kathleen; Marcé‐Grau, Anna; Ortigoza‐Escobar, Juan D.; Macaya, Alfons; Danti, Federica R.; Barwick, Katy; Papandreou, Apostolos; Ng, Joanne; Meyer, Esther; Mohammad, Shekeeb S.; Smith, Martin; Muntoni, Francesco; Munot, Pinki; Uusimaa, Johanna; Vieira, Päivi; Sheridan... Journal: Movement disorders Issue: Volume 37:Issue 11(2022) Page Start: 2197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗