المؤلفون: Valentina De Giorgis, Ludovica Pasca, Gemma Aznar‐Lain, Irena Bibic, Vedrana Bibic, Francesca Darra, Alice Dianin, Anastasia Dressler, Henna Jonsson, Jonna Komulainen‐Ebrahim, Magnhild Kverneland, Ellen Molteberg, Francesca Ragona, Anne deSaint‐Martin, Costanza Varesio, J. Helen Cross

المصدر: Epilepsia Open, Vol 9, Iss 4, Pp 1582-1588 (2024)

مصطلحات موضوعية: epilepsy, ERN‐EpiCARE, ketogenic dietary therapies, patient centered outcomes, unmet needs, Neurology. Diseases of the nervous system, RC346-429

Relation: https://doi.org/10.1002/epi4.12968; https://doaj.org/toc/2470-9239; https://doaj.org/article/302b64d8b1da4710a028f1d9a7abb813

الاتاحة: https://doi.org/10.1002/epi4.12968
https://doaj.org/article/302b64d8b1da4710a028f1d9a7abb813

المؤلفون: Gemma Aznar-Laín, Daniel M. Fernández-Mayoralas, Anne G. Caicoya, Rodrigo Rocamora, Luis A. Pérez-Jurado

المصدر: Pediatric Neurology. 144:84-89

مصطلحات موضوعية: Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::009fffc00aa09ca9d5865c17ed0b473a
https://doi.org/10.1016/j.pediatrneurol.2023.04.015

المؤلفون: Dong Li, Qin Wang, Allan Bayat, Mark Battig, Yijing Zhou, Daniëlle G. M. Bosch, Gijs van Haaften, Leslie Granger, Andrea K. Petersen, Luis Perez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlíková Pourová, Zdenek Sedlacek, Beth A. Keena, Michael E. March, Cuiping Hou, Nora O'Connor, Elizabeth J. Bhoj, Margaret H. Harr, Gabrielle Lemire, Kym M. Boycott, Meghan C. Towne, Megan Li, mark tarnopolsky, Lauren Brady, Michael J. Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S. Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tugce B. Balci, Raymond J. Louie, Michael J. Lyons, Jessica Douglas, Catherine B. Nowak

المساهمون: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark, Zhou, Yijing, Bosch, Daniëlle G. M., van Haaften, Gij, Granger, Leslie, Petersen, Andrea K., Perez-Jurado, Lui, Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlíková Pourová, Radka, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O'Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan C., Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Kristin Parsley, Lea, Agolini, Emanuele, Lisa Dentici, Maria, Novelli, Antonio, Wright, Meredith S., Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Roger Lebel, Robert, Balci, Tugce B., Louie, Raymond J., Lyons, Michael J., Douglas, Jessica, Nowak, Catherine B.

مصطلحات موضوعية: Development, Genetic disease, Genetic, Neurodevelopment, iPS cells

وصف الملف: ELETTRONICO

Relation: firstpage:N/A; lastpage:N/A; journal:THE JOURNAL OF CLINICAL INVESTIGATION; https://hdl.handle.net/11567/1158036

الاتاحة: https://hdl.handle.net/11567/1158036
https://doi.org/10.1172/jci171235

المؤلفون: Alvaro Sanchez-Larsen, Gemma Aznar-Lain, Begoña Benito, Alessandro Principe, Miguel Ley, Adrià Tauste Campo, Rodrigo Rocamora

المصدر: Epilepsy and Behavior Case Reports, Vol 8, Iss C, Pp 40-43 (2017)

مصطلحات موضوعية: Atrial fibrillation, Cardiac arrhythmia, SUDEP, Epilepsy, SHANK3 gene, Phelan–McDermid syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

Relation: http://www.sciencedirect.com/science/article/pii/S2213323217300567; https://doaj.org/toc/2213-3232; https://doaj.org/article/308febee9ed8470294ccc3839a9e15b4

الاتاحة: https://doi.org/10.1016/j.ebcr.2017.06.005
https://doaj.org/article/308febee9ed8470294ccc3839a9e15b4

المؤلفون: Hilario Gómez-Martín, Rocío Calvo, Cesar Ruiz, Cristina Auger, Maria D M Mendibe, Berta Pujol-Soler, Josep Dalmau, Alberto Alcantud, Albert Saiz, Gabriela Orellana, Xavier Montalban, Teresa Bermejo, Ana Camacho Salas, Lourdes Aquino Fariña, Desire Gonzalez-Barrios, Lorena Monge-Galindo, Raquel Ruiz-García, Ana Felipe-Rucián, Miguel Tomás-Vila, Maria Vázquez-López, Gema Arriola-Pereda, Diana Alvarez Demanuel, Natalia Juliá-Palacios, Elena Miravet, Ainhoa García-Ribes, Marta Muñoz-Batista, Gemma Aznar-Laín, Elena Maqueda-Castellote, Maria Jesús Martínez-González, Ignacio Málaga, Mar Tintoré, Eva Caballero, Eulàlia Turon-Viñas, Maite Benavides-Medina, Eduardo López-Laso, Verónica Delgadillo-Chilavert, Sara Jimena-Garcia, María Jiménez-Legido, Adeline Vanderver, Maria Concepción Miranda-Herrero, Cristina Villar-Vera, Maria Sepúlveda, Amagoia Elosegi-Castellanos, Verónica Cantarín-Extremera, Montserrat Garcia-Puig, Helena Ariño, Vanesa Esteban Canto, Maria D Mora-Ramírez, Maria I Rodriguez-Lucenilla, Sergio Aguilera-Albesa, Luis Querol, Tania Nunes-Cabrera, Joaquín A. Fernández-Ramos, Beatriz Muñoz-Cabello, Verónica González-Álvarez, Francesc Graus, Alfredo Ramírez, Simone Mattozi, Marta Martínez González, Eugenia Martinez-Hernandez, Laura Toledo Bravo de Laguna, Lucía Martín-Viota, Mireia Alvarez Molinero, Georgina Arrambide, Víctor Soto-Insuga, Gemma Olivé-Cirera, Raquel Blanco-Lago, Itxaso Martí-Carrera, David Conejo-Moreno, Luisa Arrabal, Thaís Armangue, Luis González-Gutiérrez-Solana, Juan Navarro-Morón

المصدر: LANCET NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: Male, 0301 basic medicine, REVISIONS, CHILDREN, Pediatrics, DISEASE, Cohort Studies, 0302 clinical medicine, immune system diseases, Medicine, CRITERIA, Prospective Studies, Child, Prospective cohort study, DISSEMINATED ENCEPHALOMYELITIS, First episode, NEUROMYELITIS-OPTICA, biology, Neuromyelitis Optica, Immunoglobulins, Intravenous, hemic and immune systems, Syndrome, MULTIPLE-SCLEROSIS, Magnetic Resonance Imaging, Child, Preschool, Acute disseminated encephalomyelitis, Encephalitis, Female, Rituximab, medicine.drug, medicine.medical_specialty, DIAGNOSIS, Myelin oligodendrocyte glycoprotein, 03 medical and health sciences, Internal medicine, Humans, MOG, Optic neuritis, Autoantibodies, Autoimmune encephalitis, RECEPTOR, business.industry, medicine.disease, nervous system diseases, 030104 developmental biology, nervous system, Spain, Immunoglobulin G, biology.protein, Myelin-Oligodendrocyte Glycoprotein, Neurology (clinical), business, 030217 neurology & neurosurgery, Demyelinating Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9970f92ffa17885a66458bff77f007c1
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=12048

المؤلفون: Simone Mattozzi, Pere Soler-Palacín, Manuel Toledo, Laia Alsina, Gemma Aznar-Laín, Cristóbal Carnero, Teresa Bermejo, Virginia Pomar, Eloy Rodríguez-Rodríguez, Lucía Martín-Viota, Carmen Torres-Torres, David Dacruz-Álvarez, Laura Toledo-Bravo, Juan C Portillo-Cuenca, Verónica González-Álvarez, Elisa Fernández-Cooke, Eloy Martinez-Heras, Maria Concepción Miranda-Herrero, Maria Angeles Marcos, Dulce Campos, Olaf Neth, Verónica Delgadillo-Chilavert, Ana Zabalza, Alexandru Vlagea, Silvana Sarria-Estrada, Myrna R. Rosenfeld, Robert Guerri, María Lorenzo-Ruiz, Laura Abraira, Alfonso Amado-Puentes, Carmen Montejo, Beatriz Muñoz-Cabello, Marcos Madruga, Maria Elena Erro, Anna Felipe, Germán Morís, Luis Monros-Giménez, Claudia Fortuny, Luisa Arrabal, Noemí Nuñez-Enamorado, Albert Saiz, Andrea Campo, Jordi Muchart, Antonio Hedrera-Fernández, Josep Dalmau, Juan C García-Monco, Itxaso Martí-Carrera, David Conejo-Moreno, Eduardo López-Laso, María Poyato, Gabriela Secondi, Thaís Armangue, Eulàlia Turón, Sergio Aguilera-Albesa, Antia Moreira, Miguel Tomás, Ignacio Málaga-Diéguez, Sabas Boyero-Durán, Teresa Gili, Xavier Martínez-Lacasa, Sara Llufriu, Luis Querol, Luis Bataller, Luis Prieto, Íñigo Corral-Corral, Antoni Noguera-Julian, Marianna Spatola, Marc Carceles-Cordon, Àngela Deyà, Leticia Martín Gil, Lorena Monge, Eugenia Martinez-Hernandez, Antonio Arjona-Padillo, Joaquín A. Fernández-Ramos, Marta Dapena, Juan Navarro-Morón, Ana Camacho, Francesc Graus, Concepción Sierra, María J. López, María-Jesús Martínez-González, Jordi Estela-Herrero, Verónica Cantarín-Extremera, S Guillén, Paula Bellas-Lamas, Izascun Arratibel, Helena Ariño, Víctor Soto-Insuga, Manel Juan

المساهمون: Universitat de Barcelona

المصدر: LANCET NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Autoimmunity, medicine.disease_cause, Herpesvirus diseases, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Young adult, Prospective cohort study, Autoimmune encephalitis, business.industry, Autoimmunitat, Encefalitis, Odds ratio, Herpes, medicine.disease, 030104 developmental biology, Herpes simplex virus, Cohort, Encephalitis, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fabf730fd9775265ff1029b31bd1c2f
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8151

المؤلفون: Marta Gonzalez-Sepulveda, Jordi Segura, Oscar J. Pozo, Rosa Ventura, Luis A. Pérez-Jurado, Josep Marcos, Irene Gracia-Rubio, Nuria Renau, Gemma Aznar-Laín, Olga Valverde

المصدر: Journal of chromatography. A. 1434

مصطلحات موضوعية: Adult, Male, Serotonin, Prefrontal Cortex, Mass spectrometry, Tandem mass spectrometry, Kynurenic Acid, 01 natural sciences, Biochemistry, Analytical Chemistry, 03 medical and health sciences, chemistry.chemical_compound, Mice, Young Adult, 0302 clinical medicine, Kynurenic acid, Metabolomics, Liquid chromatography–mass spectrometry, Tandem Mass Spectrometry, Intellectual Disability, Animals, Humans, Tyrosine, Monoamine Oxidase, Kynurenine, Aged, Chromatography, 010401 analytical chemistry, Organic Chemistry, Tryptophan, Genetic Diseases, X-Linked, General Medicine, Middle Aged, Healthy Volunteers, 0104 chemical sciences, Aggression, Disruptive, Impulse Control, and Conduct Disorders, chemistry, Female, 030217 neurology & neurosurgery, Chromatography, Liquid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2348101c60b2d0427f8ded498baaf793
https://pubmed.ncbi.nlm.nih.gov/26818237

المؤلفون: Rima Nabbout, Gemma Aznar Laín, Christine Soufflet, Pascale Delonlay, Svetlana Gataullina, Christine Bulteau, Catherine Chiron, Nathalie Boddaert, Olivier Dulac, Eric Lemaire

المصدر: Developmental medicine and child neurology. 57(2)

مصطلحات موضوعية: Blood Glucose, Male, Pediatrics, medicine.medical_specialty, Time Factors, Adolescent, Status epilepticus, Brain damage, Grey matter, Glycogen Storage Disease Type I, White matter, Epilepsy, Status Epilepticus, Developmental Neuroscience, Seizures, Hyperinsulinism, medicine, Humans, Child, Retrospective Studies, Glycogen storage disease type I, business.industry, Incidence, Infant, Newborn, Infant, medicine.disease, Hyperintensity, Hypoglycemia, medicine.anatomical_structure, Anesthesia, Child, Preschool, Pediatrics, Perinatology and Child Health, Disease Progression, Female, Neurology (clinical), medicine.symptom, business, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a85d23c3e55686dbf6cb9c59b31ab75
https://pubmed.ncbi.nlm.nih.gov/25271671

المؤلفون: Rima Nabbout, Claude Cances, Christine Bulteau, Georges Dellatolas, Sylvianne Peudenier, Gemma Aznar Laín, Georges Dorfmüller, Bénédicte Héron, Marie-Anne Barthez, Nathalie Boddaert, Isabelle An, Jean-Michel Pedespan, Catherine Chiron, José P. Monteiro, Mathieu Milh, David Grevent, Monika Eisermann, Olivier Dulac

المصدر: Epilepsia. 54(9)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hippocampus, Electroencephalography, Epilepsy types, Epilepsy, medicine, Humans, Child, Neuroradiology, Retrospective Studies, Cerebral Cortex, medicine.diagnostic_test, business.industry, Age Factors, Infant, Newborn, Infant, medicine.disease, Epileptic spasms, Neurology, Anesthesia, Child, Preschool, Herpetic Encephalitis, Neurology (clinical), Encephalitis, Herpes Simplex, Age of onset, business, Spasms, Infantile

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c8c08ff977e834022e4076e4bab002b
https://pubmed.ncbi.nlm.nih.gov/23815601

المؤلفون: Gemma Aznar Laín, Núria López Segura, Antonio Mur Sierra, Juan Nolla Salas

المصدر: Medicina Clínica. 141:557-558

مصطلحات موضوعية: Injury control, business.industry, MEDLINE, Poison control, Human factors and ergonomics, General Medicine, medicine.disease, Suicide prevention, Thallium poisoning, Occupational safety and health, Injury prevention, Medicine, Medical emergency, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b3c8497c7729563ebc87943f0bd84c68
https://doi.org/10.1016/j.medcli.2013.04.002

المؤلفون: Miguel Del Campo, Ivon Cuscó, Gemma Aznar-Laín, Guillermo Antiñolo, Maria Rigau, Marta Codina-Solà, Elisabeth Gabau, Blanca Gener, Maria P. Botella, Luis A. Pérez-Jurado, Aïda Homs, Armand Gutiérrez-Arumí, Javier Santoyo, Benjamín Rodríguez-Santiago

المصدر: Molecular Autism
Codina-Solà, M, Rodríguez-Santiago, B, Homs, A, Santoyo, J, Rigau, M, Aznar-Laín, G, del Campo, M, Gener, B, Gabau, E, Botella, M P, Gutiérrez-Arumí, A, Antiñolo, G, Pérez-Jurado, L A & Cuscó, I 2015, ' Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders ', Molecular Autism, vol. 6, no. 1, 21 . https://doi.org/10.1186/s13229-015-0017-0
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات موضوعية: medicine.medical_specialty, Neurology, CNV, ASD, Developmental Neuroscience, Genetic etiology, SNV, mental disorders, Transcriptome profiling, Medicine, Heritability of autism, Autisme -- Aspectes genètics, Molecular Biology, Exome sequencing, Genetics, business.industry, Research, Heritability, medicine.disease, Human genetics, Psychiatry and Mental health, Whole-exome sequencing, Autism, business, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::210b9379abd668746938067529735b8f