Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents
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
Published in Scientific reports (19.11.2018)
Published in Scientific reports (19.11.2018)
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Journal Article
Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family
Gasparini, Alessandra, Tosatto, Silvio C E, Murgia, Alessandra, Leonardi, Emanuela
Published in Scientific reports (28.07.2017)
Published in Scientific reports (28.07.2017)
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Journal Article
Feasibility and Reliability Assessment of Video-Based Motion Analysis and Surface Electromyography in Children with Fragile X during Gait
Sawacha, Zimi, Spolaor, Fabiola, Piątkowska, Weronika Joanna, Cibin, Federica, Ciniglio, Alfredo, Guiotto, Annamaria, Ricca, Marco, Polli, Roberta, Murgia, Alessandra
Published in Sensors (Basel, Switzerland) (12.07.2021)
Published in Sensors (Basel, Switzerland) (12.07.2021)
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Journal Article
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"
Leonardi, Emanuela, Bettella, Elisa, Pelizza, Maria Federica, Aspromonte, Maria Cristina, Polli, Roberta, Boniver, Clementina, Sartori, Stefano, Milani, Donatella, Murgia, Alessandra
Published in Frontiers in neurology (16.12.2020)
Published in Frontiers in neurology (16.12.2020)
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Journal Article
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
Aspromonte, Maria C., Bellini, Mariagrazia, Gasparini, Alessandra, Carraro, Marco, Bettella, Elisa, Polli, Roberta, Cesca, Federica, Bigoni, Stefania, Boni, Stefania, Carlet, Ombretta, Negrin, Susanna, Mammi, Isabella, Milani, Donatella, Peron, Angela, Sartori, Stefano, Toldo, Irene, Soli, Fiorenza, Turolla, Licia, Stanzial, Franco, Benedicenti, Francesco, Marino‐Buslje, Cristina, Tosatto, Silvio C. E., Murgia, Alessandra, Leonardi, Emanuela
Published in Human mutation (01.06.2020)
Published in Human mutation (01.06.2020)
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Journal Article
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype
Cesca, Federica, Bettella, Elisa, Polli, Roberta, Leonardi, Emanuela, Aspromonte, Maria Cristina, Sicilian, Barbara, Stanzial, Franco, Benedicenti, Francesco, Sensi, Alberto, Ciorba, Andrea, Bigoni, Stefania, Cama, Elona, Scimemi, Pietro, Santarelli, Rosamaria, Murgia, Alessandra
Published in Journal of human genetics (01.10.2020)
Published in Journal of human genetics (01.10.2020)
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Journal Article
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
Yrigollen, Carolyn M, Martorell, Loreto, Durbin-Johnson, Blythe, Naudo, Montserrat, Genoves, Jordi, Murgia, Alessandra, Polli, Roberta, Zhou, Lili, Barbouth, Deborah, Rupchock, Abigail, Finucane, Brenda, Latham, Gary J, Hadd, Andrew, Berry-Kravis, Elizabeth, Tassone, Flora
Published in Journal of neurodevelopmental disorders (30.07.2014)
Published in Journal of neurodevelopmental disorders (30.07.2014)
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Journal Article
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters
Piatkowska, Weronika Joanna, Spolaor, Fabiola, Romanato, Marco, Polli, Roberta, Huang, Alessandra, Murgia, Alessandra, Sawacha, Zimi
Published in Applied sciences (01.02.2022)
Published in Applied sciences (01.02.2022)
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Journal Article
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)
Leonardi, Emanuela, Bellini, Mariagrazia, Aspromonte, Maria C, Polli, Roberta, Mercante, Anna, Ciaccio, Claudia, Granocchio, Elisa, Bettella, Elisa, Donati, Ilaria, Cainelli, Elisa, Boni, Stefania, Sartori, Stefano, Pantaleoni, Chiara, Boniver, Clementina, Murgia, Alessandra
Published in Genes (24.03.2020)
Published in Genes (24.03.2020)
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Journal Article
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation
Protic, Dragana, Polli, Roberta, Hwang, Ye Hyun, Mendoza, Guadalupe, Hagerman, Randi, Durbin-Johnson, Blythe, Hayward, Bruce E, Usdin, Karen, Murgia, Alessandra, Tassone, Flora
Published in Cells (Basel, Switzerland) (24.06.2023)
Published in Cells (Basel, Switzerland) (24.06.2023)
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Journal Article
Vaccination Attitude and Communication in Early Settings: An Exploratory Study
Mereu, Noemi, Mereu, Alessandra, Murgia, Alessandra, Liori, Arianna, Piga, Michela, Argiolas, Federico, Salis, Graziella, Santus, Simonetta, Porcu, Carmela, Contu, Paolo, Sardu, Claudia
Published in Vaccines (Basel) (20.11.2020)
Published in Vaccines (Basel) (20.11.2020)
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Journal Article
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability
Moncini, Silvia, Castronovo, Paola, Murgia, Alessandra, Russo, Silvia, Bedeschi, Maria Francesca, Lunghi, Marta, Selicorni, Angelo, Bonati, Maria Teresa, Riva, Paola, Venturin, Marco
Published in Journal of human genetics (01.04.2016)
Published in Journal of human genetics (01.04.2016)
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Journal Article
14q12 duplication including FOXG1 : Is there a common age-dependent epileptic phenotype?
Bertossi, Chiara, Cassina, Matteo, De Palma, Luca, Vecchi, Marilena, Rossato, Sara, Toldo, Irene, Donà, Marta, Murgia, Alessandra, Boniver, Clementina, Sartori, Stefano
Published in Brain & development (Tokyo. 1979) (01.05.2014)
Published in Brain & development (Tokyo. 1979) (01.05.2014)
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Journal Article
Distribution of AGG interruption patterns within nine world populations
Yrigollen, Carolyn M., Sweha, Stefan, Durbin-Johnson, Blythe, Zhou, Lili, Berry-Kravis, Elizabeth, Fernandez-Carvajal, Isabel, Faradz, Sultana MH, Amiri, Khaled, Shaheen, Huda, Polli, Roberta, Murillo-Bonilla, Luis, Gabriel de Jesus Silva Arevalo, Cogram, Patricia, Murgia, Alessandra, Tassone, Flora
Published in Intractable & Rare Diseases Research (01.11.2014)
Published in Intractable & Rare Diseases Research (01.11.2014)
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Journal Article
Dosimetric effect of Elekta Beam modulator micromultileaf in three-dimensional conformal radiotherapy and intensity-modulated radiotherapy for prostate cancer
Carosi, Alessandra, Ingrosso, Gianluca, Ponti, Elisabetta, Tolu, Barbara, Murgia, Alessandra, di Cristino, Daniela, Santoni, Riccardo
Published in Medical dosimetry : official journal of the American Association of Medical Dosimetrists (2014)
Published in Medical dosimetry : official journal of the American Association of Medical Dosimetrists (2014)
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Technical solutions to reduce mediastinal irradiation in young patients undergoing treatment for lymphomas: Preliminary experience
Benassi, Michaela, Di Murro, Luana, Tolu, Barbara, Ponti, Elisabetta, Falco, Maria Daniela, Rossi, Carla, Bagalà, Paolo, di Cristino, Daniela, Murgia, Alessandra, Cicchetti, Sara, Bruni, Claudia, Morelli, Pasquale, Lancia, Andrea, Santoni, Riccardo
Published in Medical dosimetry : official journal of the American Association of Medical Dosimetrists (2016)
Published in Medical dosimetry : official journal of the American Association of Medical Dosimetrists (2016)
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Journal Article
Molecular analysis of two uncharacterized sequence variants of the VHL gene
Martella, Maddalena, Salviati, Leonardo, Casarin, Alberto, Trevisson, Eva, Opocher, Giuseppe, Polli, Roberta, Gross, David, Murgia, Alessandra
Published in Journal of human genetics (01.11.2006)
Published in Journal of human genetics (01.11.2006)
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Journal Article
Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant
Granocchio, Elisa, Andreoli, Luca, Magazù, Santina, Sarti, Daniela, Leonardi, Emanuela, Murgia, Alessandra, Ciaccio, Claudia
Published in European child & adolescent psychiatry (03.05.2024)
Published in European child & adolescent psychiatry (03.05.2024)
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Journal Article
Unsupervised cluster approach to identify possible associations between phenotypes and gait motor control in children with Fragile x syndrome
Spolaor, Fabiola, Beghetti, Federica, Guiotto, Annamaria, DiGiorgio, Elisa, Liani, Valentina, Polli, Roberta, Rigoni, Giulio, Murgia, Alessandra, Sawacha, Zimi
Published in Gait & posture (01.09.2024)
Published in Gait & posture (01.09.2024)
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Journal Article
Are gait kinematics and muscle activity influenced by mosaicism type in Fragile X Syndrome?
Spolaor, Fabiola, Guiotto, Annamaria, Weronika, Piatkowska, Di Giorgio, Elisa, Liani, Valentina, Polli, Roberta, Martinez, Garazi Casillas, Murgia, Alessandra, Sawacha, Zimi
Published in Gait & posture (01.09.2023)
Published in Gait & posture (01.09.2023)
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