Sfoglia per Autore
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow
2022 Godler, David E; Ling, Ling; Gamage, Dinusha; Baker, Emma K; Bui, Minh; Field, Michael J; Rogers, Carolyn; Butler, Merlin G; Murgia, Alessandra; Leonardi, Emanuela; Polli, Roberta; Schwartz, Charles E; Skinner, Cindy D; Alliende, Angelica M; Santa Maria, Lorena; Pitt, James; Greaves, Ronda; Francis, David; Oertel, Ralph; Wang, Min; Simons, Cas; Amor, David J
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters
2022 Piatkowska, WERONIKA JOANNA; Spolaor, Fabiola; Romanato, Marco; Polli, Roberta; Huang, Alessandra; Murgia, Alessandra; Sawacha, Zimi
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia
2021 Ciaccio, C.; Leonardi, E.; Polli, R.; Murgia, A.; D'Arrigo, S.; Granocchio, E.; Chiapparini, L.; Pantaleoni, C.; Esposito, S.
A supervised classification of children with fragile X syndrome and controls driven by gait analysis data
2021 Piatkowska, W.; Romanato, M.; Spolaor, F.; Huang, A.; Murgia, A.; Sawacha, Z.
Feasibility and reliability assessment of video-based motion analysis and surface electromyography in children with fragile x during gait
2021 Sawacha, Z.; Spolaor, F.; Piatkowska, W. J.; Cibin, F.; Ciniglio, A.; Guiotto, A.; Ricca, M.; Polli, R.; Murgia, A.
Von Hippel-Lindau disease and multispecialist team
2021 Pavesi, G.; Feletti, A.; Ferrara, A. M.; Anglani, M.; Scarpa, B.; Schiavi, F.; Boaretto, F.; Zovato, S.; Taschin, E.; Gardi, M.; Zanoletti, E.; Piermarocchi, S.; Murgia, A.; Opocher, G.
Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families
2021 Di Giorgio, Elisa; Polli, Roberta; Lunghi, Marco; Murgia, Alessandra
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype
2020 Cesca, F.; Bettella, E.; Polli, R.; Leonardi, E.; Aspromonte, M. C.; Sicilian, B.; Stanzial, F.; Benedicenti, F.; Sensi, A.; Ciorba, A.; Bigoni, S.; Cama, E.; Scimemi, P.; Santarelli, R.; Murgia, A.
PPP2R5D variants in patients with variable neurodevelopmental phenotype
2020 Aspromonte, MARIA CRISTINA; Leonardi, Emanuela; Polli, Roberta; Bettella, Elisa; Cameran, Marilena; Guerrini, Renzo; Murgia, Alessandra
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”
2020 Leonardi, Emanuela; Bettella, Elisa; Pelizza, MARIA FEDERICA; Aspromonte, MARIA CRISTINA; Polli, Roberta; Boniver, Clementina; Sartori, Stefano; Milani, Donatella; Murgia, Alessandra
A novel WAC loss of function mutation in an individual presenting with encephalopathy related to status epilepticus during sleep (ESES)
2020 Leonardi, E.; Bellini, M.; Aspromonte, M. C.; Polli, R.; Mercante, A.; Ciaccio, C.; Granocchio, E.; Bettella, E.; Donati, I.; Cainelli, E.; Boni, S.; Sartori, S.; Pantaleoni, C.; Boniver, C.; Murgia, A.
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)
2020 Leonardi, E.; Bellini, M.; Aspromonte, M. C.; Polli, R.; Mercante, A.; Ciaccio, C.; Granocchio, E.; Bettella, E.; Donati, I.; Cainelli, E.; Boni, S.; Sartori, S.; Pantaleoni, C.; Boniver, C.; Murgia, A.
Alterations in surface EMG during gait in children with Fragile X Syndrome
2020 Sawacha, Z.; Spolaor, F.; Piatkowska, W.; Cibin, F.; Pavan, D.; Guiotto, A.; Polli, R.; Ricca, M.; Murgia, A.
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”
2020 Leonardi, E.; Bettella, E.; Pelizza, M. F.; Aspromonte, M. C.; Polli, R.; Boniver, C.; Sartori, S.; Milani, D.; Murgia, A.
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)
2020 Kaur, S.; Van Bergen, N. J.; Ben-Zeev, B.; Leonardi, E.; Tan, T. Y.; Coman, D.; Kamien, B.; White, S. M.; St John, M.; Phelan, D.; Rigbye, K.; Lim, S. C.; Torres, M. C.; Marty, M.; Savva, E.; Zhao, T.; Massey, S.; Murgia, A.; Gold, W. A.; Christodoulou, J.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
2020 1, Gabriella Vera; 2, Arthur Sorlin; 2, Geoffroy Delplancq; 1, François Lecoquierre; 3, Marie Brasseur-Daudruy; 4, Florence Petit; 5, Thomas Smol; 6, Alban Ziegler; 6, Dominique Bonneau; 6, Estelle Colin; 7, Sandra Mercier; 7, Benjamin Cogné; 7, Stéphane Bézieau; 8, Patrick Edery; 8, Gaetan Lesca; 8, Nicolas Chatron; 9, Isabelle Sabatier; Duban-Bedu 10, Bénédicte; Colson 11, Cindy; Piton 12, Amélie; Durand 12, Benjamin; Capri 13, Yline; Perrin 13, Laurence; Wiesener 14, Antje; Zweier 14, Christiane; Maroofian 15, Reza; J Carroll 16, Christopher; Galehdari 17, Hamid; Mazaheri 18, Neda; Callewaert 19, Bert; Giulianno 20, Fabienne; Zaafrane-Khachnaoui 21, Khaoula; Buchert-Lo 22, Rebecca; Haack 22, Tobias; Magg 23, Janine; Rieß 22, Angelika; Blandfort 24, Maria; Waldmüller 22, Stephan; Horber 23, Veronka; Leonardi, Emanuela; Polli, Roberta; Turolla 26, Licia; Murgia, Alessandra; 1, Thierry Frebourg; Sophie Lebre 28, Anne; 1, Gaël Nicolas; 1, Pascale Saugier-Veber; Guerrot 29, Anne-Marie
Cluster analysis of electromyographic data in children with Fragile X Syndrome and controls
2020 Piatkowska, W; Sawacha, Z; Spolaor, F; Romanato, M; Voltan, S; Cibin, F; Pavan, D; Guiotto, A; Polli, R; Murgia, A
Surface EMG during gait in children with fragile X syndrome: could this become a measurable outcome?
2019 Sawacha, Z.; Spolaor, F.; Cibin, F.; Piatkowska, W.; Pavan, D.; Guiotto, A.; Polli, R.; Ricca, M.; Murgia, A.
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
2019 Guo, H.; Bettella, E.; Marcogliese, P. C.; Zhao, R.; Andrews, J. C.; Nowakowski, T. J.; Gillentine, M. A.; Hoekzema, K.; Wang, T.; Wu, H.; Jangam, S.; Liu, C.; Ni, H.; Willemsen, M. H.; van Bon, B. W.; Rinne, T.; Stevens, S. J. C.; Kleefstra, T.; Brunner, H. G.; Yntema, H. G.; Long, M.; Zhao, W.; Hu, Z.; Colson, C.; Richard, N.; Schwartz, C. E.; Romano, C.; Castiglia, L.; Bottitta, M.; Dhar, S. U.; Erwin, D. J.; Emrick, L.; Keren, B.; Afenjar, A.; Zhu, B.; 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, A.; Eichler, E. E.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
2019 Aspromonte, M. C.; Bellini, Mariagrazia; Gasparini, A.; Carraro, M.; Bettella, E.; Polli, R.; Cesca, F.; Bigoni, S.; Boni, S.; Carlet, O.; Negrin, S.; Mammi, I.; Milani, Duccio; Peron, A.; Sartori, S.; Toldo, I.; Soli, F.; Turolla, L.; Stanzial, F.; Benedicenti, F.; MARINO BUSLJE, CRISTINA ESTER; Tosatto, S. C. E.; Murgia, A.; Leonardi, E.
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