المؤلفون: Neuray C, Maroofian R, Scala M, Sultan T, Pai GS, Mojarrad M, Khashab HE, deHoll L, Yue W, Alsaif HS, Zanetti MN, Bello O, Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S, SYNaPS Study Group, El-Bassyouni HT, Soliman DR, Tekes S, Ozer L, Baltaci V, Khan S, Beetz C, Amr KS, Salpietro V, Jamshidi Y, Alkuraya FS, Houlden H. Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Di Rosa G, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D Ferrari, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves A Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa

المساهمون: Neuray, C, Maroofian, R, Scala, M, Sultan, T, Pai, G, Mojarrad, M, Khashab, He, Deholl, L, Yue, W, Alsaif, H, Zanetti, Mn, Bello, O, Person, R, Eslahi, A, Khazaei, Z, Feizabadi, Mh, Efthymiou, S, SYNaPS Study, Group, El-Bassyouni, Ht, Soliman, Dr, Tekes, S, Ozer, L, Baltaci, V, Khan, S, Beetz, C, Amr, K, Salpietro, V, Jamshidi, Y, Alkuraya, F, Houlden H., Stanislav Groppa, Blagovesta Marinova, Karashova, Wolfgang, Nachbauer, Sylvia, Boesch, Larissa, Arning, Dagmar, Timmann, Bru, Cormand, Belen, Pérez-Dueña, Di Rosa, G, Jatinder, S Goraya, Tipu, Sultan, Jun, Mine, Daniela, Avdjieva, Hadil, Kathom, Radka, Tincheva, Selina, Banu, Mercedes, Pineda-Marfa, Pierangelo, Veggiotti, Michel, D Ferrari, Alberto, Verrotti, Giangluigi, Marseglia, Salvatore, Savasta, Mayte, García-Silva, Alfons Macaya, Ruiz, Barbara, Garavaglia, Eugenia, Borgione, Simona, Portaro, Benigno Monteagudo, Sanchez, Richard, Bole, Savvas, Papacosta, Michail, Vikeli, Eleni Zamba, Papanicolaou, Efthymios, Dardioti, Shazia, Maqbool, Shahnaz, Ibrahim, Salman, Kirmani, Nuzhat Noureen, Rana, Osama, Atawneh, George, Koutsi, Marianthi, Breza, Salvatore, Mangano, Carmela, Scuderi, Giovanna, Morello, Tanya, Stojkovic, Massimi, Zollo, Gali, Heimer, Yves, A Dauvillier, Pasquale, Striano, Issam, Al-Khawaja, Fuad, Al-Mutairi, Hamed, Sherifa

مصطلحات موضوعية: GAD1, cleft palate, epilepsy, muscle weakness, neurodevelopmental delay

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32705143; info:eu-repo/semantics/altIdentifier/wos/WOS:000825023900016; volume:143; issue:8; firstpage:2388; lastpage:2397; numberofpages:10; journal:BRAIN; https://hdl.handle.net/11570/3185113Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097368013; https://academic.oup.com/brain/article/143/8/2388/5875729?login=trueTest

الإتاحة: https://doi.org/10.1093/brain/awaa178Test
https://hdl.handle.net/11570/3185113Test
https://academic.oup.com/brain/article/143/8/2388/5875729?login=trueTest

المؤلفون: Laurent Villard, Ori Bondi, Nadia Bahi-Buisson, Bosnjak Vlatka Mejaski, Rachel S. Levy-Drummer, Joussef Hayek, Alessandra Renieri, Béla Melegh, Judith Armstrong, Silvia Russo, Mercedes Pineda, Andreea Nissenkorn, Milena Djuric, Dana Craiu, Cristina Anghelescu, Alexsandra Djukic, Aglaia Vignoli, Angus John Clarke, Giorgio Pini, Anne Marie Bisgaard, Edvige Veneselli, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Bruria Ben-Zeev, Ilaria Meloni, Francesca Mari

المساهمون: Department of Biotechnology, Università degli Studi di Siena = University of Siena (UNISI)-Medical Genetics, Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Medical Genetics, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Medicine and Pharmacy 'Carol Davila' Bucharest (UMPCD), Department of Medical Genetics and Child Development, University of Pecs, IRCCS Istituto Auxologico Italiano, Child Neuropsychiatry Unit, Azienda Ospedaliera Universitaria Senese, Villard, Laurent, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Epilepsia
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Epilepsia, Wiley, 2015, 56 (4), pp.569-576. ⟨10.1111/epi.12941⟩
Epilepsia, 2015, 56 (4), pp.569-576. ⟨10.1111/epi.12941⟩
ResearcherID
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: Male, Neurology, Databases, Factual, Methyl-CpG-Binding Protein 2, [SDV]Life Sciences [q-bio], [SDV.GEN] Life Sciences [q-bio]/Genetics, computer.software_genre, Epileptogenesis, Epilepsy, 0302 clinical medicine, Neurodevelopmental disorder, Preserved speech variant, Child, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Database, Medicine (all), Seizure, 3. Good health, MECP2, [SDV] Life Sciences [q-bio], Child, Preschool, Female, medicine.medical_specialty, Adolescent, Rett syndrome, 03 medical and health sciences, Databases, Young Adult, medicine, Rett Syndrome, Genetic Association Studies, Humans, Infant, Preschool, Factual, 030304 developmental biology, Neurology (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Odds ratio, medicine.disease, Age of onset, business, computer, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c0d56b002f0fa61a2ea553e1c6b697aTest
https://onlinelibrary.wiley.com/doi/full/10.1111/epi.12941Test

المؤلفون: M. A. Vilaseca, Mercedes Pineda, Rafael Artuch, A. Aracil, Aida Ormazabal

المصدر: Neuropediatrics. 36:380-385

مصطلحات موضوعية: Biogenic Amines, medicine.medical_specialty, Adolescent, Methyl-CpG-Binding Protein 2, DNA Mutational Analysis, Leucovorin, Rett syndrome, High-performance liquid chromatography, Statistics, Nonparametric, Central nervous system disease, Folinic acid, Epilepsy, Folic Acid, Cerebrospinal fluid, Internal medicine, Biogenic amine, Rett Syndrome, Humans, Medicine, Child, chemistry.chemical_classification, Dose-Response Relationship, Drug, business.industry, General Medicine, medicine.disease, Pteroylpolyglutamic Acids, Endocrinology, Biochemistry, chemistry, Child, Preschool, Reference values, Vitamin B Complex, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11e94e64af86562412f0cc4d2f76ba4fTest
https://doi.org/10.1055/s-2005-873078Test

المؤلفون: Francesc Sanmartí, Ana G. Pérez, Antonina Pereira, Angels García-Cazorla, Rafael Artuch, Aida Ormazabal, Maria del Mar O’Callaghan, Sofia T. Duarte, Mercedes Pineda, Judith Armstrong, Ana Roche, Carlos Ortez

المصدر: PLoS ONE, Vol 8, Iss 7, p e68851 (2013)
PLoS ONE

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, lcsh:Medicine, Rett syndrome, Developmental and Pediatric Neurology, Biology, Pediatrics, MECP2, Pathogenesis, Young Adult, Epilepsy, Cerebrospinal fluid, Neurodevelopmental disorder, Neurotrophic factors, Internal medicine, Genetics, Rett Syndrome, medicine, Humans, Solute Carrier Family 12, Member 2, Child, lcsh:Science, Clinical Genetics, Multidisciplinary, Symporters, lcsh:R, Infant, Newborn, Infant, Human Genetics, X-Linked, medicine.disease, Endocrinology, Neurology, Gene Expression Regulation, Case-Control Studies, Child, Preschool, RC0321, Medicine, GABAergic, Female, lcsh:Q, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76b5174d7aaeda873d2bab7d66ae9175Test

المؤلفون: Jaume Campistol Plana, Rosa Pino Ramírez, Wael Fasheh Youssef, Mercedes Pineda Marfa

المصدر: Pediatric emergency care. 27(11)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Salmonella enteritidis, Comorbidity, Unnecessary Procedures, medicine.disease_cause, Rotavirus Infections, Epilepsy, Seizures, Rotavirus, Convulsion, Medicine, Humans, Retrospective Studies, Dehydration, business.industry, Incidence (epidemiology), Incidence, Infant, Retrospective cohort study, General Medicine, Acute gastroenteritis, Length of Stay, medicine.disease, Prognosis, Gastroenteritis, Spain, Child, Preschool, Pediatrics, Perinatology and Child Health, Acute Disease, Salmonella Infections, Emergency Medicine, Female, Epilepsies, Partial, Epilepsy, Tonic-Clonic, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87735af31c35fbadcd92bcac694d430dTest
https://pubmed.ncbi.nlm.nih.gov/22863831Test

المؤلفون: Juliette Nectoux, R De Filippis, Judith Armstrong, Z Krumina, E Gak, A Spanhol-Rosseto, Alessandra Renieri, Francesca Mari, T Bienvenu, Rosangela Artuso, D Rondinella, R Rubinsztajn, Francesca Ariani, Anne Moncla, Brigitte Chabrol, M.A. Mencarelli, Laurent Villard, Mercedes Pineda, Ana Roche, Nadia Bahi-Buisson

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Microcephaly, business.industry, Methyl-CpG-Binding Protein 2, CDKL5, Rett syndrome, Forkhead Transcription Factors, Nerve Tissue Proteins, medicine.disease, Hypotonia, MECP2, FOXG1, Epilepsy, Neurodevelopmental disorder, Child, Preschool, Mutation, Genetics, medicine, Rett Syndrome, Humans, Female, medicine.symptom, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21171ddc90ba564dbf722a4f1ae3d693Test
http://hdl.handle.net/11391/1231747Test

المؤلفون: P Póo, U. Moog, Georg F. Hoffmann, Angels García-Cazorla, Mercedes Pineda, Mercedes Serrano, Nicole I. Wolf, Jaime Campistol, Belén Pérez-Dueñas

المساهمون: Pediatric surgery, NCA - Childhood White Matter Diseases

المصدر: Garcia-Cazorla, A, Wolf, N I, Serrano, M, Moog, U, Perez-Duenas, B, Poo, P, Pineda, M, Campistol, J & Hoffmann, G F 2009, ' Mental retardation and inborn errors of metabolism ', Journal of Inherited Metabolic Disease, vol. 32, no. 5, pp. 597-608 . https://doi.org/10.1007/s10545-009-0922-5Test
Journal of Inherited Metabolic Disease, 32(5), 597-608. Springer Netherlands

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Newborn screening, business.industry, Infant, Newborn, Ethnic populations, Cerebellar dysfunction, medicine.disease, Human genetics, Recurrence risk, Developmental disorder, Epilepsy, Neonatal Screening, Intellectual Disability, Practice Guidelines as Topic, Genetics, Humans, Medicine, In patient, business, Psychiatry, Algorithms, Metabolism, Inborn Errors, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2714a4a2f2144ec66c207b7365c2efefTest
https://research.vumc.nl/en/publications/4f27ea37-e712-4f4f-9db6-e8540f4aab2aTest

المؤلفون: Mercedes Serrano, Verónica González, Mercedes Pineda, Belén Pérez-Dueñas, E. Fernández-Álvarez, Rafael Artuch, Jaime Campistol, Angeles Garcia-Cazorla, Aida Ormazabal

المصدر: Developmental medicine and child neurology. 49(10)

مصطلحات موضوعية: Male, Physiology, Neonatal onset, Severity of Illness Index, 5-Hydroxytryptophan, chemistry.chemical_compound, Epilepsy, Cerebrospinal fluid, Developmental Neuroscience, Neuroimaging, Severity of illness, Medicine, Humans, Neurotransmitter, business.industry, Homovanillic acid, Infant, Newborn, Brain, Infant, Electroencephalography, Homovanillic Acid, Hydroxyindoleacetic Acid, medicine.disease, Pterins, Motor Skills Disorders, Phenotype, chemistry, Pediatrics, Perinatology and Child Health, Etiology, Female, Neurology (clinical), Atrophy, Nervous System Diseases, business, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e09209c416c7fa1d84591d90a705289dTest
https://pubmed.ncbi.nlm.nih.gov/17880642Test

المؤلفون: Jacques Jaeken, Lambertus Dorland, Mercedes Pineda, L. Van Maldergem, T. J. de Koning, B. T. Poll-The, R. Gooskens, M. Duran

المساهمون: Laboratory Genetic Metabolic Diseases, Paediatric Metabolic Diseases, Paediatric Neurology, Neurology

المصدر: Journal of inherited metabolic disease, 25(2), 119-125. Springer Netherlands

مصطلحات موضوعية: Male, medicine.medical_specialty, Microcephaly, Glycine, Central nervous system disease, Serine, Epilepsy, Seizures, Internal medicine, Genetics, medicine, Humans, Phosphoglycerate dehydrogenase, Child, Genetics (clinical), Phosphoglycerate Dehydrogenase, chemistry.chemical_classification, business.industry, Infant, medicine.disease, Amino acid, Endocrinology, Treatment Outcome, chemistry, Child, Preschool, Carbohydrate Dehydrogenases, Female, Psychomotor Disorders, Psychomotor disorder, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4685abf41017a599f040fe7ca68a848Test
https://pubmed.ncbi.nlm.nih.gov/12118526Test

المؤلفون: Jaime Campistol, Judith Armstrong, Mercedes Pineda, Ana Roche, Carmen Fons, E. Gerotina

المصدر: European Journal of Paediatric Neurology. 13:S71

مصطلحات موضوعية: Genetics, Epilepsy, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), CDKL5, Medicine, Rett syndrome, Neurology (clinical), General Medicine, business, medicine.disease, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cf9ea38db04f306134d7029603d1876aTest
https://doi.org/10.1016/s1090-3798Test(09)70223-5