المؤلفون: Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura, Pierangelo Veggiotti, Luigina Spaccini, Cristina Cereda

المصدر: Frontiers in Genetics. 14

مصطلحات موضوعية: novel ATP7A variant, Genetics, case report, Molecular Medicine, ACY deficiency, Menkes disease, overlapping phenotype, delayed copper therapy, Settore MED/39 - Neuropsichiatria Infantile, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65fdc48056abb31530c0b4b309e19227Test

المؤلفون: Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Krishnakumar, Shyam S.

المساهمون: V. Salpietro, N.T. Malintan, I. Llano-Riva, C.G. Spaeth, S. Efthymiou, P. Striano, J. Vandrovcova, M.C. Cutrupi, R. Chimenz, E. David, G. Di Rosa, A. Marce-Grau, M. Raspall-Chaure, E. Martin-Hernandez, F. Zara, C. Minetti, Y. Kriouile, M. El Khorassani, M. Aguennouz, B. Karashova, D. Avdjieva, H. Kathom, R. Tincheva, L. Van Maldergem, W. Nachbauer, S. Boesch, L. Arning, D. Timmann, B. Cormand, B. Pérez-Dueña, E. Pironti, J.S. Goraya, T. Sultan, S. Kirmani, S. Ibrahim, F. Jan, J. Mine, S. Banu, P. Veggiotti, M.D. Ferrari, A. Verrotti, G.L. Marseglia, S. Savasta, B. Garavaglia, C. Scuderi, E. Borgione, V. Dipasquale, S. Portaro, B.M. Sanchez, M. Pineda-Marfa, F. Munell, A. Macaya, R. Bole, G. Heimer, S. Papacosta, A. Manole, N. Malintan, M.N. Zanetti, M.G. Hanna, J.E. Rothman, D.M. Kullmann, H. Houlden, O.D. Bello, R. De Zorzi, S. Fortuna, A. Dauber, M. Alkhawaja, K. Mankad, A. Vitobello, Q. Thoma, F.T. Mau-Them, L. Faivre, F. Martinez-Azorin, C.E. Prada, S.S. Krishnakumar

مصطلحات موضوعية: autism, epilepsy, movement disorder, neurodevelopmental disorder, neuronal exocytosi, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetic, Genetics (clinical), Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30929742; info:eu-repo/semantics/altIdentifier/wos/WOS:000463474700012; volume:104; issue:4; firstpage:721; lastpage:730; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/640796Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063684737

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.016Test
http://hdl.handle.net/2434/640796Test

المؤلفون: Maria Luigia Gambardella, Elisa Pede, Lorenzo Orazi, Simona Leone, Michela Quintiliani, Giulia Maria Amorelli, Maria Petrianni, Marta Galanti, Filippo Amore, Elisa Musto, Marco Perulli, Ilaria Contaldo, Chiara Veredice, Eugenio Maria Mercuri, Domenica Immacolata Battaglia, Daniela Ricci

المصدر: Genes
Volume 14
Issue 3
Pages: 544

مصطلحات موضوعية: GNAO1 mutation, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, neurovisual competences, Genetics, visual function, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c4cfe34d751b8208b6327fcf47316fcTest
https://hdl.handle.net/10807/236395Test

المؤلفون: Daniel L. Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont

المصدر: American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 190(4)

مصطلحات موضوعية: MAP2K1, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, MAP2K2, Genetics, KRAS, RASopathies, Genetics (clinical), BRAF, seizures

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aca54fb7bb57e91456390432335ed841Test
https://pubmed.ncbi.nlm.nih.gov/36448195Test

المؤلفون: Słowińska, Monika, Jóźwiak, Sergiusz, Peron, Angela, Borkowska, Julita, Chmielewski, Dariusz, Sadowski, Krzysztof, Jurkiewicz, Elzbieta, Vignoli, Aglaia, La Briola, Francesca, Canevini, Maria Paola, Kotulska-Jóźwiak, Katarzyna

المساهمون: M. Słowińska, S. Jóźwiak, A. Peron, J. Borkowska, D. Chmielewski, K. Sadowski, E. Jurkiewicz, A. Vignoli, F. La Briola, M.P. Canevini, K. Kotulska-Jóźwiak

مصطلحات موضوعية: Antiepileptogenic treatment, Cardiac rhabdomyoma, Epilepsy, Infancy - cardiac tumor, Preventative treatment, TSC - early diagnosi, Tuberous sclerosis complex, Genetics (clinical), Pharmacology (medical), Settore MED/39 - Neuropsichiatria Infantile, Settore MED/03 - Genetica Medica, Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29378663; info:eu-repo/semantics/altIdentifier/wos/WOS:000423690100001; volume:13; issue:1; firstpage:1; lastpage:10; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/2434/559321Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041196459

الإتاحة: https://doi.org/10.1186/s13023-018-0764-zTest
http://hdl.handle.net/2434/559321Test

المؤلفون: Mirella Vinci, Petri Kursula, Donatella Greco, Maurizio Elia, Luigi Vetri, Carmelo Schepis, Valeria Chiavetta, Serena Donadio, Michele Roccella, Marco Carotenuto, Valentino Romano, Francesco Calì

المساهمون: Vinci, Mirella, Kursula, Petri, Greco, Donatella, Elia, Maurizio, Vetri, Luigi, Schepis, Carmelo, Chiavetta, Valeria, Donadio, Serena, Roccella, Michele, Carotenuto, Marco, Romano, Valentino, Calì, Francesco

المصدر: e2012
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Heart Defects, Congenital, AHNAK2, borderline intellectual functioning, epilepsy, facio-cardio-cutaneous-like phenotype, NGS exome, facio-cardio-cutaneous-like phenotype, Facies, NGS exome, Settore MED/39 - Neuropsichiatria Infantile, Failure to Thrive, Nucleoproteins, Ectodermal Dysplasia, Neurodevelopmental Disorders, AHNAK2, borderline intellectual functioning, Genetics, Humans, epilepsy, Exome, Female, Molecular Biology, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c875f6b429205db43f800f0ec77b1730Test
https://doi.org/10.1002/mgg3.2012Test

المؤلفون: Alessia Leidi, Roberto Previtali, Cecilia Parazzini, Federico Raviglione, Stephana Carelli, Marisa I. Mendes, Gajja S. Salomons, Maria Iascone, Davide Tonduti

المساهمون: Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Laboratory Genetic Metabolic Diseases, ANS - Amsterdam Neuroscience

المصدر: Genetics in Medicine, 24(5), 1152-1153. Lippincott Williams and Wilkins
Leidi, A, Previtali, R, Parazzini, C, Raviglione, F, Carelli, S, Mendes, M I, Salomons, G S, Iascone, M & Tonduti, D 2022, ' Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al ', Genetics in Medicine, vol. 24, no. 5, pp. 1152-1153 . https://doi.org/10.1016/j.gim.2022.01.010Test
Genetics in medicine, 24(5), 1152-1153. Lippincott Williams and Wilkins

مصطلحات موضوعية: Phenotype, Leukoencephalopathies, Humans, Settore MED/39 - Neuropsichiatria Infantile, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158acc3bf8776b1eff313f434a21f7aaTest
https://doi.org/10.1016/j.gim.2022.01.010Test

المؤلفون: Giuseppe Donato Mangano, Antonina Fontana, Vincenzo Salpietro, Vincenzo Antona, Giuseppa Renata Mangano, Rosaria Nardello

المساهمون: Giuseppe Donato Mangano, Antonina Fontana, Vincenzo Salpietro, Vincenzo Antona, Giuseppa Renata Mangano, Rosaria Nardello

مصطلحات موضوعية: Male, Nuclear Export Signals, Settore M-PSI/02 - Psicobiologia E Psicologia Fisiologica, Autism Spectrum Disorder, Mutation, Missense, General Medicine, FMR1 point mutation, Settore MED/39 - Neuropsichiatria Infantile, Fragile X Mental Retardation Protein, Phenotype, Settore MED/38 - Pediatria Generale E Specialistica, Intellectual Disability, Autism spectrum disorders ASD, Settore M-PSI/08 - Psicologia Clinica, Genetics, Humans, Intellectual disability ID, Female, Nuclear export signal NES, Genetics (clinical), Fragile X syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::717b7bb63e80c4b23cc4a3ae7db65bf9Test
http://hdl.handle.net/10447/558830Test

المؤلفون: Valeria A. Sansone, Matthew Civitello, Mariacristina Scoto, Adele D'Amico, Emilio Albamonte, Irene Mizzoni, Anna Lia Frongia, Maria Carmela Pera, Basil T. Darras, John W. Day, Amy Pasternak, Francesca Bovis, Sally Dunaway Young, Giorgia Coratti, Laura Antonaci, Eugenio Mercuri, Maria Sframeli, Tina Duong, Claudio Bruno, Annemarie Rohwer, Jacqueline Montes, Richard S. Finkel, Marika Pane, Darryl C. De Vivo, Enrico Bertini, Giovanni Baranello, Evelin Milev, Roberto De Sanctis, Francesco Muntoni, Sonia Messina, Allan M. Glanzman, Elena S. Mazzone, Massimo Russo

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Spinal, Natural history, Spinal Muscular Atrophies of Childhood, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, Upper Extremity, Neuromuscular disorders, Revised upper limb module, Spinal muscular atrophy, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Humans, Child, Child, Preschool, Disease Progression, Female, Longitudinal Studies, Middle Aged, Preschool, Genetics (clinical), business.industry, SMA, medicine.disease, Relative stability, Large cohort, Settore MED/26 - NEUROLOGIA, Muscular Atrophy, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cardiology, Upper limb, Neurology (clinical), business, Real world data

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862b23e9e6b08e24fee4b1754d6d00fcTest
http://hdl.handle.net/10807/197786Test

المؤلفون: Giorgia Coratti, Maria Carmela Pera, Adele D'Amico, Claudio Bruno, Francesca Bovis, Consolato Gullì, Noemi Brolatti, Marina Pedemonte, Massimo Apicella, Laura Antonaci, Martina Ricci, Anna Capasso, Gianpaolo Cicala, Costanza Cutrona, Roberto de Sanctis, Sara Carnicella, Nicola Forcina, Michela Catteruccia, Maria Beatrice Damasio, Luca Labianca, Antonio Leone, Enrico Bertini, Marika Pane, Eugenio Mercuri

مصطلحات موضوعية: Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Natural history, Spinal muscular atrophy, Trajectories, Radiography, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Neurology, Scoliosis, Pediatrics, Perinatology and Child Health, Humans, Neurology (clinical), Genetics (clinical), Cobb's angle, Neuromuscular disorders, Follow-Up Studies, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562e969b780bc7e98a47769fe5b32b1fTest
https://hdl.handle.net/10807/226648Test