MURGIA, ALESSANDRA
MURGIA, ALESSANDRA
Dipartimento di Salute della Donna e del Bambino - SDB
14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype?
2014 Bertossi, C.; Cassina, Matteo; De Palma, L.; Vecchi, M.; Rossato, S.; Toldo, Irene; Donà, M.; Murgia, Alessandra; Boniver, C.; Sartori, S.
A genotype-phenotype correlartion for GJB2 (connexin 26) deafness
2004 Cryns, K; Orzan, E; Murgia, Alessandra; Huygen, Plm; Moreno, P; DEL CASTILLO, I; Chamberlain, Gp; Hazaies, H; Prasad, S; Cucci, R; Govaerts, Pj; VAN DEHEYNING, Ph; VAN DEHEYNING, Cm; Smith, Rjh; VAN CAMP, G.; Leonardi, Emanuela
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 new disease-causing mutation in the GAP-related domain of the NF1 gene
1993 Anglani, Franca; Murgia, Alessandra; Bedin, Silvia; Bresin, E; Bernardi, Fabiola; Clementi, Maurizio; R., Tenconi
A NEW MUTATION IN THE GRD OF THE NF1 GENE
1993 Murgia, Alessandra; Anglani, Franca; C., Vinanzi; R., Tenconi; Clementi, Maurizio; F., Bernardi; F., Zacchello
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 deletion involving the Connexin-30 gene, del(GJB6-D13S1854) found in trans with mutations in the GJB2 gene (Connexin 26) in subjects with DFNB1 non syndromic hearing impairment
2005 DEL CASTILLO, Fj; RODRIGUES BALLESTEROS, M; Alvarez, A; Hutchin, T; Leonardi, E; Araiez, H; Brownstein, Z; Avenarius, Mr; Marlin, S; Panda, A; Shahin, H; Siemering, Kr; Wuyts, W; Aguirre, L; Martin, Y; MORENO PELAYO, M; Villamar, M; Avraham, Kb; Dahl, Hhm; Kanaan, M; Nance, We; Petit, C; Smith, Rjh; VAN CAMP, G; Murgia, Alessandra; Moreno, F; DEL CASTILLO, I.
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
2010 Wilch, E; Azaiez, H; Fisher, R; Elfenbein, J; Murgia, Alessandra; BIRKENHÄGER, R; Bolz, H; DA SILVA COSTA, Sm; DEL CASTILLO, I; Haaf, T; Hoefsloot, L; Kremer, H; Kubisch, C; LE MARECHAL, C; Pandya, A; Sartorato, E; Schneider, E; VAN CAMP, G; Wuyts, W; Smith, Rjh; Friderici, K.
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
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.
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
Adding structural information to the von Hippel-Lindau (VHL) tumor suppressor interaction network
2009 Leonardi, Emanuela; Murgia, Alessandra; Tosatto, Silvio
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
Analisi del linkage con 5 marcatori del DNA del cromosoma 17 in famiglie con neurofibromatosi del Nord Est Italia.
1990 Anglani, Franca; R., Tenconi; Murgia, Alessandra; N. A., Greggio; C., Camporese; Clementi, Maurizio; L., Turolla; M., Abdol Mohammady; F., Zacchello