Browsing by Author "Macaya Ruíz, Alfons"
Now showing items 1-15 of 15
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Salpietro, Vincenzo; Dixon, Christine L; Guo, Hui; Bello, Oscar D; Vandrovcova, Jana; Efthymiou, Stephanie; Raspall Chaure, Miquel; Macaya Ruíz, Alfons (Nature Research, 2019-07-12) -
Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex
Jansen, Anna C.; Belousova, Elena; Perkovic Benedik, Mirjana; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Macaya Ruíz, Alfons (Frontiers Media, 2019-07-03) -
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
Nabbout, Rima; Belousova, Elena; Perkovic Benedik, Mirjana; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Macaya Ruíz, Alfons (Frontiers Media, 2021-09) -
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence
Verdura, Edgard; Senger, Bruno; Raspall Chaure, Miquel; Schluter, Agatha; Launay, Nathalie; Ruiz, Montserrat; Macaya Ruíz, Alfons (BMJ, 2022-12) -
Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy
Marcé Grau, Anna; Elorza‐Vidal, Xabier; Pérez‐Rius, Carla; Ruiz‐Nel·lo, Anna; Sala Coromina, Julia; Gabau, Elisabeth; Macaya Ruíz, Alfons (Wiley, 2021-10) -
Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: results from the international TOSCA study
Jansen, Anna C.; Belousova, Elena; Perkovic Benedik, Mirjana; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Macaya Ruíz, Alfons (Frontiers Media, 2019-08-02) -
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1
Urbizu, Aintzane; Garrett, Melanie E.; Soldano, Karen; Drechsel, Oliver; Loth, Dorothy; Marcé Grau, Anna; Poca Pastor, Ma Antonia; Macaya Ruíz, Alfons; Mestres Soler, Olga (Public Library Science, 2021-05-11) -
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
Sauter, Matthias; Belousova, Elena; Perkovic Benedik, Mirjana; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Macaya Ruíz, Alfons (BMC, 2021-07-06) -
Real-World Evidence Study on the Long-Term Safety of Everolimus in Patients With Tuberous Sclerosis Complex: Final Analysis Results
Ruiz-Falcó Rojas, María Luz; Feucht, Martha; Macaya Ruíz, Alfons; Wilken, Bernd; Hahn, Andreas; Maamari, Ricardo (Frontiers Media, 2022-04-08) -
Reduced hippocampal subfield volumes and memory performance in preterm children with and without germinal matrix-intraventricular hemorrhage
Fernández de Gamarra‑Oca, Lexuri; Zubiaurre‑Elorza, Leire; Junqué, Carme; Solana, Elisabeth; Soria‑Pastor, Sara; Vázquez Méndez, Josefa Élida; Macaya Ruíz, Alfons; Poca Pastor, Ma Antonia; Delgado Alvarez, Ignacio (Nature Research, 2021-01-28) -
The European Reference Network for Rare Neurological Diseases
Reinhard, Carola; Bachoud-Lévi, Anne-Catherine; Bäumer, Tobias; Bertini, Enrico; Brunelle, Alicia; Buizer, Annemieke; Macaya Ruíz, Alfons; Perez Dueñas, Belen (Frontiers Media, 2021-01) -
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders
Gorman, Kathleen; Marcé Grau, Anna; Ortigoza Escobar, Juan Dario; Macaya Ruíz, Alfons; Danti, Federica Rachele; Perez Dueñas, Belen (Wiley, 2022-11) -
Treatment patterns and use of resources in patients with tuberous sclerosis complex: insights from the TOSCA registry
Marques, Ruben; Belousova, Elena; Perkovic Benedik, Mirjana; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Macaya Ruíz, Alfons (Frontiers Media, 2019-10-25) -
TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex
Kingswood, John Christopher; Belousova, Elena; Perkovic Benedik, Mirjana; Carter, Tom; Cottin, Vincent; Macaya Ruíz, Alfons; Budde, Klemens (Frontiers Media, 2021-03-23) -
TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
Kingswood, John Christopher; d’Augères, Guillaume B.; Belousova, Elena; Ferreira, José C.; Carter, Tom; Castellana, Ramon; Macaya Ruíz, Alfons (BMC, 2017-01-05)