المؤلفون: D'Amore, Angelica, Tessa, Alessandra, Naef, Valentina, Bassi, Maria Teresa, Citterio, Andrea, Romaniello, Romina, Fichi, Gianluca, Galatolo, Daniele, Mero, Serena, Battini, Roberta, Bertocci, Giulia, Baldacci, Jacopo, Sicca, Federico, Gemignani, Federica, Ricca, Ivana, Rubegni, Anna, Hirst, Jennifer, Marchese, Maria, Sahin, Mustafa, Ebrahimi-Fakhari, Darius, Santorelli, Filippo M

مصطلحات موضوعية: Adaptor Protein Complex 4, Adolescent, Animals, Genetically Modified, Behavior, Animal, Cerebral Palsy, Child, Preschool, Cohort Studies, Disease Models, Epilepsy, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Neurodevelopmental Disorders, Spastic Paraplegia, Hereditary, Zebrafish

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/305530Test

الإتاحة: https://doi.org/10.17863/CAM.52610Test
https://www.repository.cam.ac.uk/handle/1810/305530Test

المؤلفون: Paliotti, Karina, Dassi, Christelle, Berrahmoune, Saoussen, Bejaran, Marlin Liz, Davila, Carlos Eduardo Valera, Martinez, Ariadna Borràs, Estupiñà, Maria Carme Fons, Mancardi, Maria Margherita, Riva, Antonella, Giacomini, Thea, Severino, Mariasevina, Romaniello, Romina, Dubeau, François, Srour, Myriam, Myers, Kenneth A.

المصدر: Journal of Neurology; Aug2023, Vol. 270 Issue 8, p3934-3945, 12p

مصطلحات موضوعية: EPILEPSY, DNA copy number variations, PHENOTYPES, GENETIC testing, HUMAN abnormalities

المؤلفون: Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Mélanie, Capri, Yline, Heron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C., Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe

المساهمون: Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC), Oxford University Hospitals NHS Trust, University of Oxford, Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone CHU - APHM (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), IRCCS Eugenio Medea, IRCCS, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Hôpital Robert Debré Paris, Hôpital Robert Debré, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau APHP, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Medicine and Pharmacy “Carol Davila” Bucharest (UMPCD), Oxford NIHR Biomedical Research Centre, Children's Hospital of Pittsburgh of UPMC Etats-Unis, Department of Clinical Genetics, Sheffield Children's NHS Foundation Trust, University Hospitals Leicester, CHU de Grenoble-Alpes, Département de génétique médicale Hôpital de la Timone - APHM, 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), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Erasmus University Medical Center Rotterdam (Erasmus MC), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Plateau technique de Biologie CHU de Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Health Innovation Challenge Fund

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: WWOX, encephalopathy, epilepsy, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30356099; hal-01932796; https://amu.hal.science/hal-01932796Test; https://amu.hal.science/hal-01932796/documentTest; https://amu.hal.science/hal-01932796/file/s41436-018-0339-3.pdfTest; PUBMED: 30356099; PUBMEDCENTRAL: PMC6752669

الإتاحة: https://doi.org/10.1038/s41436-018-0339-3Test
https://amu.hal.science/hal-01932796Test
https://amu.hal.science/hal-01932796/documentTest
https://amu.hal.science/hal-01932796/file/s41436-018-0339-3.pdfTest

المؤلفون: Masnada, Silvia, Alfei, Enrico, Formica, Manuela, Previtali, Roberto, Accorsi, Patrizia, Arrigoni, Filippo, Bonanni, Paolo, Borgatti, Renato, Darra, Francesca, Fusco, Carlo, De Giorgis, Valentina, Giordano, Lucio, La Briola, Francesca, Orcesi, Simona, Osanni, Elisa, Parazzini, Cecilia, Pinelli, Lorenzo, Rebessi, Erika, Romaniello, Romina, Romeo, Antonino, Spagnoli, Carlotta, Uebler, Christian, Varesio, Costanza, Viri, Maurizio, Zucca, Claudio, Pichiecchio, Anna, Veggiotti, Pierangelo

المساهمون: Masnada, Silvia, Alfei, Enrico, Formica, Manuela, Previtali, Roberto, Accorsi, Patrizia, Arrigoni, Filippo, Bonanni, Paolo, Borgatti, Renato, Darra, Francesca, Fusco, Carlo, De Giorgis, Valentina, Giordano, Lucio, La Briola, Francesca, Orcesi, Simona, Osanni, Elisa, Parazzini, Cecilia, Pinelli, Lorenzo, Rebessi, Erika, Romaniello, Romina, Romeo, Antonino, Spagnoli, Carlotta, Uebler, Christian, Varesio, Costanza, Viri, Maurizio, Zucca, Claudio, Pichiecchio, Anna, Veggiotti, Pierangelo

مصطلحات موضوعية: Aicardi syndrome phenotypes, Clinical outcome, Long term electroencephalographic follow-up, Electroencephalography, Humans, Magnetic Resonance Imaging, Retrospective Studies, Aicardi Syndrome, Epilepsy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36030575; info:eu-repo/semantics/altIdentifier/wos/WOS:000890148500003; volume:142; firstpage:112; lastpage:124; numberofpages:13; journal:CLINICAL NEUROPHYSIOLOGY; https://hdl.handle.net/11562/1079689Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136591887; https://www.clinicalkey.com/#!/content/playContent/1-s2.0-S1388245722008239?returnurl=https://linkinghub.elsevier.com/retrieve/pii/S1388245722008239?showall=true&referrer=https://pubmed.ncbi.nlm.nih.govTest/

الإتاحة: https://doi.org/10.1016/j.clinph.2022.07.496Test
https://hdl.handle.net/11562/1079689Test
https://www.clinicalkey.com/#!/content/playContent/1-s2.0-S1388245722008239?returnurl=https://linkinghub.elsevier.com/retrieve/pii/S1388245722008239?showall=true&referrer=https://pubmed.ncbi.nlm.nih.govTest/

المؤلفون: Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Dalla Bernardina, Bernardo, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, GiovannaStefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, D'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexis, Veggiotti, Pierangelo, Grp, Aicardi Syndrome Int Study

المصدر: Neurology
Masnada, S, Pichiecchio, A, Formica, M, Arrigoni, F, Borrelli, P, Accorsi, P, Bonanni, P, Borgatti, R, Dalla Bernardina, B, Danieli, A, Darra, F, Deconinck, N, De Giorgis, V, Dulac, O, Gataullina, S, Giordano, L, Guerrini, R, La Briola, F, Mastrangelo, M, Montomoli, M, Mortilla, M, Osanni, E, Parisi, P, Perucca, E, Pinelli, L, Romaniello, R, Severino, M, Vigevano, F, Vignoli, A, Bahi-Buisson, N, Cavallin, M, Accogli, A, Burgeois, M, Capra, V, Chaves-Vischer, V, Chiapparini, L, Colafati, G, D'Arrigo, S, Desguerre, I, Doco-Fenzy, M, D'Orsi, G, Epitashvili, N, Fazzi, E, Ferretti, A, Fiorini, E, Fradin, M, Fusco, C, Granata, T, Johannesen, K M, Lebon, S, Loget, P, Moller, R S, Montanaro, D, Orcesi, S, Quelin, C, Rebessi, E, Romeo, A, Solazzi, R, Spagnoli, C, Uebler, C, Zara, F, Arzimanoglou, A, Veggiotti, P & Grp, A S I S 2021, ' Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome ', Neurology, vol. 96, no. 9, pp. e1319-e1333 . https://doi.org/10.1212/WNL.0000000000011237Test

مصطلحات موضوعية: 0301 basic medicine, Drug Resistant Epilepsy, Basal Ganglia, Dysmorphism, Aicardi Syndrome, brain malformation, Aicardi Syndrome/diagnostic imaging, Electroencephalography, Corpus callosum, Epilepsy, Eating, 0302 clinical medicine, Basal ganglia, Child, medicine.diagnostic_test, Brain, Magnetic Resonance Imaging, Treatment Outcome, Motor Skills, Brain/abnormalities, Child, Preschool, Female, Radiology, Adult, medicine.medical_specialty, Adolescent, Seizures/diagnostic imaging, Drinking, Basal ganglia dysmorphism, Retina, Article, Aicardi syndrome, 03 medical and health sciences, Young Adult, Basal Ganglia/abnormalities, Neuroimaging, Seizures, medicine, Humans, Preschool, Drug Resistant Epilepsy/diagnostic imaging, Retrospective Studies, Infant, business.industry, Magnetic resonance imaging, Cortical dysplasia, medicine.disease, 030104 developmental biology, Retina/diagnostic imaging, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c93a062109ebf7072dcc9a86203a9ab3Test
https://pubmed.ncbi.nlm.nih.gov/33277420Test

المؤلفون: Giacomini, Thea, Nuovo, Sara, Zanni, Ginevra, Mancardi, Maria Margherita, Cusmai, Raffaella, Pepi, Chiara, Bertini, Enrico, Valente, Enza Maria, Battini, Roberta, Ferrari, Annarita, Romaniello, Romina, Zucca, Claudio, Borgatti, Renato, Uccella, Sara, Severino, Mariasavina, Striano, Pasquale, Pistorio, Angela, Prato, Giulia, De Grandis, Elisa, Nobili, Lino

المصدر: European Journal of Paediatric Neurology; Mar2021, Vol. 31, p61-69, 9p

مصطلحات موضوعية: SEIZURES (Medicine), CHILDHOOD epilepsy, PEOPLE with epilepsy, DEVELOPMENTAL delay, DEVELOPMENTAL disabilities, EPILEPSY, LENNOX-Gastaut syndrome

المؤلفون: Romaniello, Romina, Arrigoni, Filippo, Bassi, Maria Teresa, Borgatti, Renato

المساهمون: Romaniello, Romina, Arrigoni, Filippo, Bassi, Maria Teresa, Borgatti, Renato

مصطلحات موضوعية: Brain malformation, Epilepsy, Genotype–phenotype correlation, Malformations of cortical development, Mental retardation, Tubulin gene, Brain, Human, Nervous System Malformation, Tubulin

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25008804; volume:37; issue:3; firstpage:273; lastpage:280; numberofpages:8; journal:BRAIN & DEVELOPMENT; http://hdl.handle.net/11571/1372005Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930902538; https://www.sciencedirect.com/science/article/pii/S0387760414001375?via=ihubTest

الإتاحة: https://doi.org/10.1016/j.braindev.2014.06.002Test
http://hdl.handle.net/11571/1372005Test
https://www.sciencedirect.com/science/article/pii/S0387760414001375?via=ihubTest

المؤلفون: Romaniello, Romina, Saettini, Francesco, Panzeri, Elena, Arrigoni, Filippo, Bassi, Maria T, Borgatti, Renato

المساهمون: Romaniello, Romina, Saettini, Francesco, Panzeri, Elena, Arrigoni, Filippo, Bassi, Maria T, Borgatti, Renato

مصطلحات موضوعية: Brain, Child, Epilepsy, Female, Human, Munc18 Protein, Phenotype, Rett Syndrome, Mutation, Missense

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25714420; volume:26; issue:5; firstpage:254; lastpage:257; numberofpages:4; journal:NEUROREPORT; http://hdl.handle.net/11571/1372007Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84924973227; https://journals.lww.com/neuroreport/Fulltext/2015/03020/A_de_novo_STXBP1_gene_mutation_in_a_patient.5.aspxTest

الإتاحة: https://doi.org/10.1097/WNR.0000000000000337Test
http://hdl.handle.net/11571/1372007Test
https://journals.lww.com/neuroreport/Fulltext/2015/03020/A_de_novo_STXBP1_gene_mutation_in_a_patient.5.aspxTest

المؤلفون: Romaniello, Romina¹, Marelli, Susan¹, Borgatti, Renato¹, Giorda, Roberto², Bassi, Maria T.², Bedeschi, Maria F.³, Bonaglia, Maria C.⁴, Arrigoni, Filippo⁵, Triulzi, Fabio⁵

المصدر: Journal of Child Neurology. Jan2017, Vol. 32 Issue 1, p60-71. 12p.

مصطلحات موضوعية: *AGENESIS of corpus callosum, *BRAIN abnormalities, *INTELLECTUAL disabilities, *COMPARATIVE genomic hybridization, *EPILEPSY

المؤلفون: de Polo, Gianni, Romaniello, Romina, Otim, Annamary, Benjamin, Karlina, Bonanni, Paolo, Borgatti, Renato

المصدر: Seizure; Sep2015, Vol. 31, p64-71, 8p