Padua Research Archive, l’archivio istituzionale della produzione scientifica dell’Università degli Studi di Padova, ha lo scopo di raccogliere, documentare, conservare e pubblicare, anche ad accesso aperto, i prodotti della ricerca dell’Ateneo. Padua Research Archive utilizza la piattaforma IRIS (Institutional Research Information System) sviluppata da Cineca.

MURGIA, ALESSANDRA

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Pubblicazioni (Tutti)

Risultati 1 - 20 di 117 (tempo di esecuzione: 0.001 secondi).

	Titolo	Data di pubblicazione	Autori	Rivista
1	Characterization of intellectual disability and autism comorbidity through gene panel sequencing	2019	ASPROMONTE, MARIA CRISTINA ; BELLINI, MARIAGRAZIA ; GASPARINI, ALESSANDRA ; CARRARO, MARCO ; BETTELLA, ELISA ; POLLI, ROBERTA ; CESCA, FEDERICA ; Bigoni S.; Boni S.; Carlet O.; Negrin S.; Mammi I.; MILANI, DUCCIO ; Peron A.; Sartori S.; TOLDO, IRENE ; Soli F.; Turolla L.; Stanzial F.; Benedicenti F.; MARINO BUSLJE, CRISTINA ESTER ; TOSATTO, SILVIO ; MURGIA, ALESSANDRA ; LEONARDI, EMANUELA	HUMAN MUTATION
2	Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge	2019	CARRARO, MARCO ; Monzon, Alexander Miguel ; CHIRICOSTA, LUIGI ; REGGIANI, FRANCESCO ; ASPROMONTE, MARIA CRISTINA ; BELLINI, MARIAGRAZIA ; Pagel K.; Jiang Y.; Radivojac P.; Kundu K.; Pal L. R.; Yin Y.; Limongelli I.; Andreoletti G.; Moult J.; Wilson S. J.; Katsonis P.; Lichtarge O.; Chen J.; Wang Y.; Hu Z.; Brenner S. E.; FERRARI, CARLO ; MURGIA, ALESSANDRA ; TOSATTO, SILVIO ; LEONARDI, EMANUELA	HUMAN MUTATION
3	Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders	2019	Guo H.; BETTELLA, ELISA ; Marcogliese P. C.; Zhao R.; Andrews J. C.; Nowakowski T. J.; Gillentine M. A.; Hoekzema K.; Wang T.; Wu H.; Jangam S.; LIU, CHANG ; Ni H.; Willemsen M. H.; van Bon B. W.; Rinne T.; Stevens S. J. C.; Kleefstra T.; Brunner H. G.; Yntema H. G.; BAO, LONG MARCO ; ZHAO, WEI ; HU, ZHEFENG ; Colson C.; Richard N.; Schwartz C. E.; Romano C.; CASTIGLIA, LEONORA ; Bottitta M.; Dhar S. U.; Erwin D. J.; Emrick L.; Keren B.; Afenjar A.; ZHU, BIN ; Bai B.; Stankiewicz P.; Herman K.; Nickerson D. A.; Bamshad M. J.; Mercimek-Andrews S.; Juusola J.; Wilfert A. B.; Abou Jamra R.; Buttner B.; Mefford H. C.; Muir A. M.; Scheffer I. E.; Regan B. M.; Malone S.; Gecz J.; Cobben J.; Weiss M. M.; Waisfisz Q.; Bijlsma E. K.; Hoffer M. J. V.; Ruivenkamp C. A. L.; Sartori S.; Xia F.; Rosenfeld J. A.; Bernier R. A.; Wangler M. F.; Yamamoto S.; Xia K.; Stegmann A. P. A.; Bellen H. J.; MURGIA, ALESSANDRA ; Eichler E. E.	NATURE COMMUNICATIONS
4	A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members	2018	CESCA, FEDERICA ; BETTELLA, ELISA ; POLLI, ROBERTA ; CAMA, ELONA ; SCIMEMI, PIETRO ; SANTARELLI, ROSAMARIA ; MURGIA, ALESSANDRA	INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
5	Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.	2018	Falsaperla R; Vari MS; TOLDO, IRENE ; MURGIA, ALESSANDRA ; SARTORI, STEFANO ; VECCHI, MARILENA ; SUPPIEJ, AGNESE ; BURLINA, ALBERTO ; MASTRANGELO, GIUSEPPE ; Leuzzi V; Marchiani V; De Liso P; Capovilla G; Striano P; Vitaliti G	METABOLIC BRAIN DISEASE
6	Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review	2018	TOLDO, IRENE ; BONARDI, CLAUDIA MARIA ; BETTELLA, ELISA ; POLLI, ROBERTA ; TALENTI, GIACOMO ; BURLINA, ALBERTO ; SARTORI, STEFANO ; MURGIA, ALESSANDRA	EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
7	Rhinencephalon changes in tuberous sclerosis complex.	2018	MANARA, RENZO ; BROTTO, DAVIDE ; BUGIN, SAMUELA ; PELIZZA, MARIA FEDERICA ; SARTORI, STEFANO ; NOSADINI, MARGHERITA ; AZZOLINI, SARA ; Iaconetta G; Parazzini C; MURGIA, ALESSANDRA ; PERON, ANITA ; Canevini P; Labriola F; Vignoli A; TOLDO, IRENE	NEURORADIOLOGY
8	CNTNAP2 mutations and autosomal dominant epilepsy with auditory features	2018	LEONARDI, EMANUELA ; DAZZO, EMANUELA ; ASPROMONTE, MARIA CRISTINA ; TABARO, FRANCESCO ; PASCARELLI, STEFANO ; TOSATTO, SILVIO ; Michelucci, Roberto; MURGIA, ALESSANDRA ; Nobile, Carlo	EPILEPSY RESEARCH
9	Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents	2018	Hagerman, Randi; Jacquemont, Sebastien; Berry-Kravis, Elizabeth; Des Portes, Vincent; Stanfield, Andrew; Koumaras, Barbara; Rosenkranz, Gerd; MURGIA, ALESSANDRA ; Wolf, Christian; Apostol, George; von Raison, Florian	SCIENTIFIC REPORTS
10	Gait analysis in children with fragile syndrome: a pilot study	2018	SAWACHA, ZIMI ; SPOLAOR, FABIOLA ; PAVAN, DAVIDE ; GUIOTTO, ANNAMARIA ; POLLI, ROBERTA ; MURGIA, ALESSANDRA	GAIT & POSTURE
11	Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family.	2017	GASPARINI, ALESSANDRA ; TOSATTO, SILVIO ; MURGIA, ALESSANDRA ; LEONARDI, EMANUELA	SCIENTIFIC REPORTS
12	Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability	2016	Moncini, Silvia; Castronovo, Paola; MURGIA, ALESSANDRA ; Russo, Silvia; Bedeschi, Maria Francesca; Lunghi, Marta; Selicorni, Angelo; Bonati, Maria Teresa; Riva, Paola; Venturin, Marco	JOURNAL OF HUMAN GENETICS
13	Von Hippel-Lindau disease: an evaluation of natural history and functional disability	2016	FELETTI, ALBERTO ; ANGLANI, MARIAGIULIA; SCARPA, BRUNO ; SCHIAVI, FRANCESCA ; BOARETTO, FRANCESCA ; Zovato, Stefania; Taschin, Elisa; GARDI, MARIO; Zanoletti, Elisabetta; PIERMAROCCHI, STEFANO ; MURGIA, ALESSANDRA ; Pavesi, Giacomo; OPOCHER, GIUSEPPE	NEURO-ONCOLOGY
14	Somatic Mosaicism as Modulator of the Global and Intellectual Phenotype in Epimutated Angelman Syndrome Patients	2015	Russo, Silvia; Mainini, Ester; Luoni, Chiara; Cogliati, Francesca; Giorgini, Valentina; Bonati, Maria Teresa; Forzano, Francesca; Termine, Cristiano; MURGIA, ALESSANDRA ; Patrini, Mara; Fabretto, Antonella; Aldo, Skabar; Freri, Elena; Pecile, Vanna; Larizza, Lidia	JOURNAL OF INTELLECTUAL DISABILITY DIAGNOSIS AND TREATMENT
15	Identification of Four Novel PCDH19 Mutations and Prediction of Their Functional Impact	2014	Leonardi, Emanuela; Sartori, Stefano; Vecchi, Marilena; BETTELLA, ELISA ; Polli, Roberta; De Palma, Luca; Boniver, Clementina; MURGIA, ALESSANDRA	ANNALS OF HUMAN GENETICS
16	14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype?	2014	C. Bertossi; CASSINA, MATTEO ; L. De Palma; M. Vecchi; S. Rossato; TOLDO, IRENE ; M. Donà; MURGIA, ALESSANDRA ; C. Boniver; S. Sartori	BRAIN & DEVELOPMENT
17	AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission	2014	Carolyn M. Yrigollen; Loreto Martorell; Blythe Durbin Johnson; Montserrat Naudo; Jordi Genoves; MURGIA, ALESSANDRA ; Roberta Polli; Lili Zhou; Deborah Barbouth; Abigail Rupchock; Brenda Finucane; Gary J. Latham; Andrew Hadd; Elizabeth Berry Kravis; Flora Tassone	JOURNAL OF NEURODEVELOPMENTAL DISORDERS
18	Distribution of AGG interruption patterns within nine world populations	2014	Yrigollen CM; Sweha S; Durbin Johnson B; Zhou L; Berry Kravis E; Fernandez Carvajal I; Faradz SM; Amiri K; Shaheen H; POLLI, ROBERTA ; Murillo Bonilla L; Silva Arevalo Gde J; Cogram P; MURGIA, ALESSANDRA ; Tassone F.	IRDR
19	Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact	2014	Emanuela Leonardi; Stefano Sartori; Marilena Vecchi; BETTELLA, ELISA ; Roberta Polli; Luca De Palma; Clementina Boniver; MURGIA, ALESSANDRA	ANNALS OF HUMAN GENETICS
20	Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females	2013	BETTELLA, ELISA ; G. Di Rosa; POLLI, ROBERTA ; LEONARDI, EMANUELA ; G. Tortorella; SARTORI, STEFANO ; MURGIA, ALESSANDRA	CLINICAL GENETICS

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MURGIA, ALESSANDRA