المؤلفون: Buchignani, Bianca, Cicala, Gianpaolo, Cumbo, Francesca, Ricci, Martina, Capasso, Anna, Ticci, Chiara, Mazzanti, Sara, Brolatti, Noemi, Tosi, Michele, Dosi, Claudia, Antonaci, Laura, Coratti, Giorgia, Pera, Maria Carmela, Leone, Daniela, Palermo, Concetta, Berti, Beatrice, Frongia, Anna Lia, Sacchini, Michele, Bruno, Claudio, Masson, Riccardo, D’Amico, Adele, Battini, Roberta, Pane, Marika, Mercuri, Eugenio

مصطلحات موضوعية: Original research

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/109/5/395; http://dx.doi.org/10.1136/archdischild-2023-326613

الاتاحة: http://adc.bmj.com/cgi/content/short/109/5/395
https://doi.org/10.1136/archdischild-2023-326613

المؤلفون: Sartorelli, Jacopo, Travaglini, Lorena, Colona, Vito Luigi, Casali, Carlo, Cumbo, Francesca, D'Amico, Adele, Longo, Daniela, Novelli, Antonio, Vasco, Gessica, Bertini, Enrico, Nicita, Francesco

المصدر: Cerebellum; Dec2024, Vol. 23 Issue 6, p2408-2413, 6p

مصطلحات موضوعية: CEREBELLAR ataxia, MISSENSE mutation, ATAXIA, PROTEIN structure, ALPHA fetoproteins, SPINOCEREBELLAR ataxia, RECESSIVE genes

المؤلفون: Alfieri, Paolo, Macchiaiolo, Marina, Collotta, Martina, Montanaro, Federica Alice Maria, Caciolo, Cristina, Cumbo, Francesca, Galassi, Paolo, Panfili, Filippo Maria, Cortellessa, Fabiana, Zollino, Marcella, Accadia, Maria, Seri, Marco, Tartaglia, Marco, Bartuli, Andrea, Mammì, Corrado, Vicari, Stefano, Priolo, Manuela

المساهمون: Alfieri, Paolo, Macchiaiolo, Marina, Collotta, Martina, Montanaro, Federica Alice Maria, Caciolo, Cristina, Cumbo, Francesca, Galassi, Paolo, Panfili, Filippo Maria, Cortellessa, Fabiana, Zollino, Marcella, Accadia, Maria, Seri, Marco, Tartaglia, Marco, Bartuli, Andrea, Mammì, Corrado, Vicari, Stefano, Priolo, Manuela

مصطلحات موضوعية: Malan Syndrome, NFIX variant, adaptive behavior, cognition, intellectual disability, sensory processing

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35887841; info:eu-repo/semantics/altIdentifier/wos/WOS:000831514000001; volume:11; issue:14; firstpage:1; lastpage:13; numberofpages:13; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/11585/919430; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136358718; https://www.mdpi.com/2077-0383/11/14/4078

الاتاحة: https://hdl.handle.net/11585/919430
https://doi.org/10.3390/jcm11144078
https://www.mdpi.com/2077-0383/11/14/4078

المؤلفون: Montanaro, Federica Alice Maria, Alfieri, Paolo, Caciolo, Cristina, Cumbo, Francesca, Piga, Simone, Tartaglia, Marco, Licchelli, Serena, Digilio, Maria Cristina, Vicari, Stefano

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 190, issue 4, page 510-519 ; ISSN 1552-4868 1552-4876

الاتاحة: http://dx.doi.org/10.1002/ajmg.c.32025
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.32025
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.c.32025

المؤلفون: Cumbo, Francesca, Tosi, Michele, Mizzoni, Irene, Catteruccia, Michela, Carlesi, Adelina, Bertini, Enrico, D'Amico, Adele

المصدر: European Journal of Paediatric Neurology; Jul2024, Vol. 51, p58-61, 4p

مصطلحات موضوعية: NONVERBAL ability, WISCONSIN Card Sorting Test, COGNITIVE development, COMMUNICATIVE competence, LEARNING ability, NEMALINE myopathy, THERAPEUTICS

المؤلفون: Baranello, Giovanni, Roy, Susana Quijano, Servais, Laurent, Munell, Francina, Molinero, Mireia Alvarez, Natera de Benito, Daniel, Nascimento, Andres, Gomez-Andres, David, Comellas, Laura Costa, Exposito, Jessica, Tizzano, Eduardo F., Cuppen, Inge, Van der Pol, Ludo, Aleman, Alberto, Lochmuller, Hanns, McMillan, Hugh, Kirschner, Janbernd, Müller, Cornelia, Oskoui, Maryam, Masson, Riccardo, Bruno, Claudio, Gonorazky, Hernan D., Tesi-Rocha, Carolina, Yaworski, Amanda Marie, Zanoteli, Edmar, Mendonca, Rodrigo, D'Amico, Adele, Cumbo, Francesca, Tosi, Michele, Pane, Marika, Mercuri, Eugenio, Nardes, Flavia, Prufer, Alexandra, Arci, Brenda Klemm, Pascual, Samuel Ignacio, Fattal-Valevski, Aviva, De Waele, Liesbeth, Deconinck, Nicolas, Farrar, Michelle, Haberlova, Jana, Gomez-Garcia de la Banda, Marta, Childs, Anne-Marie, Martos, Cristina, Wraige, Elizabeth, Gowda, Vasantha, Illingworth, Marjorie, Ong, Min, Majundar, Anirban, Hughes, Imelda, Torne, Krupa

المصدر: European Journal of Paediatric Neurology ; volume 48, page 67-68 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/j.ejpn.2023.11.006
https://api.elsevier.com/content/article/PII:S109037982300168X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109037982300168X?httpAccept=text/plain

المؤلفون: Cumbo, Francesca, Tosi, Michele, Catteruccia, Michela, Diodato, Daria, Nicita, Francesco, Mizzoni, Irene, De Luca, Giacomo, Carlesi, Adelina, Alfieri, Paolo, Vicari, Stefano, Bertini, Enrico Silvio, D'Amico, Adele

المساهمون: OPBG, Ministero della Salute

المصدر: Neuromuscular Disorders ; volume 36, page 33-37 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2024.01.006
https://api.elsevier.com/content/article/PII:S096089662400035X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S096089662400035X?httpAccept=text/plain

المؤلفون: Maiorana, Arianna, Caviglia, Stefania, Greco, Benedetta, Alfieri, Paolo, Cumbo, Francesca, Campana, Carmen, Bernabei, Silvia Maria, Cusmai, Raffaella, Mosca, Antonella, Dionisi-Vici, Carlo

المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-021-02045-3
https://link.springer.com/content/pdf/10.1186/s13023-021-02045-3.pdf
https://link.springer.com/article/10.1186/s13023-021-02045-3/fulltext.html

المؤلفون: Paolo, Alfieri, Montanaro, Federica Alice Maria, Caciolo, Cristina, Cumbo, Francesca, Scibelli, Francesco, Vicari, Stefano

المصدر: Handbook of Clinical Child Psychology ; Autism and Child Psychopathology Series ; page 347-371 ; ISSN 2192-922X 2192-9238 ; ISBN 9783031249259 9783031249266

الاتاحة: http://dx.doi.org/10.1007/978-3-031-24926-6_17
https://link.springer.com/content/pdf/10.1007/978-3-031-24926-6_17

المؤلفون: Lazzaro, Giulia, Caciolo, Cristina, Menghini, Deny, Cumbo, Francesca, Digilio, Maria C., Capolino, Rossella, Zampino, Giuseppe, Tartaglia, Marco, Vicari, Stefano, Alfieri, Paolo

المصدر: Molecular Genetics & Genomic Medicine ; volume 8, issue 4 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.1069
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.1069
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1069
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1069

المؤلفون: Tosi, Michele, Cumbo, Francesca, Catteruccia, Michela, Carlesi, Adelina, Mizzoni, Irene, De Luca, Giacomo, Cherchi, Claudio, Cutrera, Renato, Bertini, Enrico, D'Amico, Adele

المصدر: European Journal of Paediatric Neurology ; volume 43, page 36-43 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/j.ejpn.2023.02.004
https://api.elsevier.com/content/article/PII:S1090379823000272?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1090379823000272?httpAccept=text/plain

المؤلفون: Nicita, Francesco, Stregapede, Fabrizia, Deodato, Federica, Pizzi, Simone, Martinelli, Simone, Pagliara, Daria, Aiello, Chiara, Cumbo, Francesca, Piemonte, Fiorella, D’Amico, Jessica, Pro, Stefano, Longo, Daniela, Genovese, Silvia, Tartaglia, Marco, Escolar, Maria L., Bertini, Enrico, Travaglini, Lorena

المصدر: European Journal of Human Genetics ; volume 30, issue 8, page 984-988 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-022-01111-z
https://www.nature.com/articles/s41431-022-01111-z.pdf
https://www.nature.com/articles/s41431-022-01111-z

المؤلفون: Cumbo, Francesca, Tosi, Michele, Catteruccia, Michela, Diodato, Daria, Nicita, Francesco, Capitello, Teresa Grimaldi, Alfieri, Paolo, Vicari, Stefano, Bertini, Enrico, D'Amico, Adele

المصدر: Neuromuscular Disorders ; volume 32, issue 9, page 736-742 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2022.07.402
https://api.elsevier.com/content/article/PII:S0960896622006149?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896622006149?httpAccept=text/plain

المؤلفون: Montanaro, Federica Alice Maria, Alfieri, Paolo, Caciolo, Cristina, Cumbo, Francesca, Tartaglia, Marco, Licchelli, Serena, Digilio, Maria Cristina, Vicari, Stefano

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6dcc5254049aec2e2aace24a11437586

المؤلفون: Alfieri, Paolo, Cumbo, Francesca, Serra, Giulia, Trasolini, Monia, Frattini, Camilla, Scibelli, Francesco, Licchelli, Serena, Cirillo, Flavia, Caciolo, Cristina, Casini, Maria Pia, D’Amico, Adele, Tartaglia, Marco, Digilio, Maria Cristina, Capolino, Rossella, Vicari, Stefano

المصدر: Brain Sci

مصطلحات موضوعية: Article, psy, socio

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918671/

الاتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918671/

المؤلفون: Alfieri, Paolo, Caciolo, Cristina, Lazzaro, Giulia, Menghini, Deny, Cumbo, Francesca, Dentici, Maria Lisa, Digilio, Maria Cristina, Gnazzo, Maria, Demaria, Francesco, Pironi, Virginia, Zampino, Giuseppe, Novelli, Antonio, Tartaglia, Marco, Vicari, Stefano

المصدر: J Clin Med

مصطلحات موضوعية: Article, psy

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8038739/

الاتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8038739/

المؤلفون: Buonuomo, Paola Sabrina, Mastrogiorgio, Gerarda, Alfieri, Paolo, Terracciano, Alessandra, Cesario, Claudia, Rana, Ippolita, Macchiaiolo, Marina, Veronika Gonfiantini, Michaela, Vecchio, Davide, Cristina Digilio, Maria, Lisa Dentici, Maria, Cumbo, Francesca, Novelli, Antonio, Bartuli, Andrea

المصدر: Clinical Dysmorphology ; volume 31, issue 2, page 74-78 ; ISSN 0962-8827

الاتاحة: http://dx.doi.org/10.1097/mcd.0000000000000408
https://journals.lww.com/10.1097/MCD.0000000000000408

المؤلفون: Maiorana, Arianna, Caviglia, Stefania, Greco, Benedetta, Alfieri, Paolo, Cumbo, Francesca, Campana, Carmen, Bernabei, Silvia Maria, Cusmai, Raffaella, Mosca, Antonella, Dionisi-Vici, Carlo

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b28020156bb7b5ede70be7014dccad76

المؤلفون: Maiorana, Arianna, Caviglia, Stefania, Greco, Benedetta, Alfieri, Paolo, Cumbo, Francesca, Campana, Carmen, Bernabei, Silvia Maria, Cusmai, Raffaella, Mosca, Antonella, Dionisi-Vici, Carlo

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::919a4e275390ce0ab91b1b9ec3d35cd8

المؤلفون: Dentici, Maria Lisa, Bergonzini, Paola, Scibelli, Francesco, Caciolo, Cristina, De Rose, Paola, Cumbo, Francesca, Alesi, Viola, Capolino, Rossella, Zanni, Ginevra, Sinibaldi, Lorenzo, Novelli, Antonio, Tartaglia, Marco, Digilio, Maria Cristina, Dallapiccola, Bruno, Vicari, Stefano, Alfieri, Paolo

المصدر: Brain Sci

مصطلحات موضوعية: Article, psy

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7697259/

الاتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7697259/