المؤلفون: Micheal Anka Tugbiyele, Santiago Candela-Cantó, Mariana Alamar Abril, Diego Culebras Palao, Victoria Becerra Castro, Alia Ramírez, Jordi Muchart, Javier Aparicio, Jordi Rumià Arboix, José Hinojosa Mena-Bernal

المصدر: Brain and Spine, Vol 3, Iss , Pp 102271- (2023)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

العلاقة: http://www.sciencedirect.com/science/article/pii/S2772529423005593Test; https://doaj.org/toc/2772-5294Test; https://doaj.org/article/cf9d21cd96b14d16ace770df3abe5ae2Test

الإتاحة: https://doi.org/10.1016/j.bas.2023.102271Test
https://doaj.org/article/cf9d21cd96b14d16ace770df3abe5ae2Test

المؤلفون: Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), SYNGAP1, rare disease, interictal epileptiform discharges, diffuse fast activity, autism spectrum disorder, EEG, disorganized background activity, developmental and epileptic encephalopathy

العلاقة: https://figshare.com/articles/dataset/Table1_Developmental_outcome_of_electroencephalographic_findings_in_SYNGAP1_encephalopathy_xlsx/25340104Test

الإتاحة: https://doi.org/10.3389/fcell.2024.1321282.s002Test
https://figshare.com/articles/dataset/Table1_Developmental_outcome_of_electroencephalographic_findings_in_SYNGAP1_encephalopathy_xlsx/25340104Test

المؤلفون: Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), SYNGAP1, rare disease, interictal epileptiform discharges, diffuse fast activity, autism spectrum disorder, EEG, disorganized background activity, developmental and epileptic encephalopathy

العلاقة: https://figshare.com/articles/dataset/DataSheet1_Developmental_outcome_of_electroencephalographic_findings_in_SYNGAP1_encephalopathy_pdf/25340101Test

الإتاحة: https://doi.org/10.3389/fcell.2024.1321282.s001Test
https://figshare.com/articles/dataset/DataSheet1_Developmental_outcome_of_electroencephalographic_findings_in_SYNGAP1_encephalopathy_pdf/25340101Test

المؤلفون: Francesc Palau, Daniel Natera-de Benito, Alexis Arzimanoglou, Javier Aparicio, Lidia Gonzalez-Quereda, J. Domínguez-Carral, Cecilia Jimenez-Mallebrera, Cristina Jou, Pia Gallano, Jaume Colomer, A. Codina, Nathalia Pardo Cardozo, Andrés Nascimento, Carlos Ortez, D. Itzep, Jessica Expósito-Escudero, Daniel Cuadras, Victoria San Antonio-Arce, Jordi Muchart, Laura Carrera-García, Alia Ramirez

المصدر: Epilepsia
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
EPILEPSIA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, MDC1A, Electroencephalography, Muscular Dystrophies, Epilepsy, 0302 clinical medicine, Polymicrogyria, merosin, EEG, Age of Onset, Muscular dystrophy, Child, seizures, medicine.diagnostic_test, Brain, LAMA2, epilepsy, Magnetic Resonance Imaging, Phenotype, Neurology, Child, Preschool, Vomiting, Anticonvulsants, Female, medicine.symptom, medicine.medical_specialty, Adolescent, Neuroimaging, Young Adult, 03 medical and health sciences, medicine, Humans, Muscle biopsy, Electromyography, business.industry, Infant, medicine.disease, 030104 developmental biology, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c1ebcf6342c2db7adcde2efd670043Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17575Test

المؤلفون: Alia Ramirez-Camacho, Judith Armstrong, Alexis Arzimanoglou, Carmen Fons, Victoria San Antonio-Arce, Javier Aparicio, Anastasia Melnikova, Jaume Campistol, Francesc Palau

المصدر: Neuropediatrics. 49:S1-S12

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Epilepsy, business.industry, Pediatrics, Perinatology and Child Health, medicine, In patient, Neurology (clinical), General Medicine, medicine.disease, business, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ce047bc6a35803c1c4c103a337912392Test
https://doi.org/10.1055/s-0038-1651846Test

المؤلفون: Jaume Campistol, Natalia Catalán, Silvia María Meavilla, Alejandra Gutiérrez, Alia Ramirez-Camacho

المساهمون: Universitat de Barcelona

المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona

مصطلحات موضوعية: Epilèpsia, Epilepsy, business.industry, Medicine, Dieta, Neurology (clinical), General Medicine, business, Humanities, Diet

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ab2850721aa9b223bb1cb3154d4364cTest
http://hdl.handle.net/2445/33386Test