POLLI, ROBERTA
POLLI, ROBERTA
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 novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.
2009 Sartori, S; Di Rosa, G; Polli, R; Bettella, E; Tricomi, G; Tortorella, G; Murgia, Alessandra
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
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 PATHOGENIC ROLE OF THE X-LINKED CYCLIN-DEPENDENT KINASE-LIKE 5 AND ARISTALESS-RELATED HOMEOBOX GENES IN EPILEPTIC ENCEPHALOPATHY OF UNKNOWN ETIOLOGY WITH ONSET IN THE FIRST YEAR OF LIFE
2011 Sartori, S; Polli, R; Bettella, E; Rossato, S; Andreoli, W; Vecchi, M; Giordano, L; Accorsi, P; DI ROSA, G; Toldo, Irene; Zamponi, N; Darra, F; DALLA BERNARDINA, B; Perilongo, Giorgio; Boniver, C; Murgia, Alessandra
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
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation
2023 Protic, Dragana; Polli, Roberta; Hwang, Ye Hyun; Mendoza, Guadalupe; Hagerman, Randi; Durbin-Johnson, Blythe; Hayward, Bruce E; Usdin, Karen; Murgia, Alessandra; Tassone, Flora
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
2014 Yrigollen, Carolyn M.; Loreto, Martorell; Blythe Durbin Johnson, ; Montserrat, Naudo; Jordi, Genoves; Murgia, Alessandra; Polli, Roberta; Lili, Zhou; Deborah, Barbouth; Abigail, Rupchock; Brenda, Finucane; Latham, Gary J.; Andrew, Hadd; Elizabeth Berry Kravis, ; Flora, Tassone
Allele drop out and MECP2 genetic testing
2012 Bettella, Elisa; Polli, Roberta; Leonardi, Emanuela; Murgia, Alessandra
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.
Amplification of the Xq28 FRAXE repeats: extreme phenotype variability?
1996 Murgia, Alessandra; Polli, R.; Vinanzi, C.; Salis, M.; Drigo, Paola; Artifoni, L.; Zacchello, Franco
Angelman Syndrome due to a novel splicing mutation of the UBE3A gene.
2008 Sartori, Stefano; Anesi, L; Polli, R; Toldo, Irene; Casarin, Alberto; Drigo, Paola; Murgia, Alessandra
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
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.
Clinical advantages from the molecular analysis of the Cx26 gene in preverbal sensorineural deafness.
2000 Murgia, Alessandra; Polli, R; Martella, Maddalena; Vinanzi, C; Orzan, E; Turato, R; Zacchello, F.
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
Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected population.
2002 Orzan, E; Murgia, Alessandra; Polli, R; Martella, M; Mazza, A; Zacchello, F; Babighian, G.
Cx26 deafness: mutation analysis and clinical variability
1999 Murgia, Alessandra; Orzan, E.; Polli, R.; Martella, M.; Vinanzi, C.; Leonardi, E.; Arslan, Edoardo; Zacchello, Franco
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.