Epilepsy in adult patients with Down syndrome: a clinical-video EEG study
Vignoli, Aglaia, Zambrelli, Elena, Chiesa, Valentina, Savini, Miriam, La Briola, Francesca, Gardella, Elena, Canevini, Maria Paola
Published in Epileptic disorders (01.06.2011)
Published in Epileptic disorders (01.06.2011)
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Sleep and behavior in children and adolescents with tuberous sclerosis complex
Zambrelli, Elena, Turner, Katherine, Peron, Angela, Leidi, Alessia, La Briola, Francesca, Vignoli, Aglaia, Canevini, Maria Paola
Published in American journal of medical genetics. Part A (01.05.2021)
Published in American journal of medical genetics. Part A (01.05.2021)
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Journal Article
Epilepsy in adult patients with tuberous sclerosis complex
Vignoli, Aglaia, La Briola, Francesca, Turner, Katherine, Peron, Angela, Vannicola, Chiara, Chiesa, Valentina, Zambrelli, Elena, Bruschi, Fabio, Viganò, Ilaria, Canevini, Maria Paola
Published in Acta neurologica Scandinavica (01.07.2021)
Published in Acta neurologica Scandinavica (01.07.2021)
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Journal Article
Epilepsy in TSC: Certain etiology does not mean certain prognosis
Vignoli, Aglaia, Briola, Francesca La, Turner, Katherine, Scornavacca, Giulia, Chiesa, Valentina, Zambrelli, Elena, Piazzini, Ada, Savini, Miriam Nella, Alfano, Rosa Maria, Canevini, Maria Paola
Published in Epilepsia (Copenhagen) (01.12.2013)
Published in Epilepsia (Copenhagen) (01.12.2013)
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Journal Article
Current concepts on epilepsy management in tuberous sclerosis complex
Canevini, Maria Paola, Kotulska‐Jozwiak, Katarzyna, Curatolo, Paolo, La Briola, Francesca, Peron, Angela, Słowińska, Monika, Strzelecka, Jolanta, Vignoli, Aglaia, Jóźwiak, Sergiusz
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2018)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2018)
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Journal Article
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID‐19: The experience of a TSC clinic in Italy
Peron, Angela, La Briola, Francesca, Bruschi, Fabio, Terraneo, Silvia, Vannicola, Chiara, Previtali, Roberto, Perazzoli, Sabrina, Morenghi, Emanuela, Bulfamante, Gaetano, Vignoli, Aglaia, Canevini, Maria Paola
Published in American Journal of Medical Genetics Part A (01.11.2020)
Published in American Journal of Medical Genetics Part A (01.11.2020)
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Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype
Peron, Angela, Novara, Francesca, La Briola, Francesca, Merati, Elisabetta, Giannusa, Emanuela, Segalini, Elena, Anniballi, Gloria, Vignoli, Aglaia, Ciccone, Roberto, Canevini, Maria Paola
Published in American journal of medical genetics. Part A (01.04.2020)
Published in American journal of medical genetics. Part A (01.04.2020)
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Journal Article
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?
Słowińska, Monika, Jóźwiak, Sergiusz, Peron, Angela, Borkowska, Julita, Chmielewski, Dariusz, Sadowski, Krzysztof, Jurkiewicz, Elżbieta, Vignoli, Aglaia, La Briola, Francesca, Canevini, Maria Paola, Kotulska-Jóźwiak, Katarzyna
Published in Orphanet journal of rare diseases (29.01.2018)
Published in Orphanet journal of rare diseases (29.01.2018)
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Journal Article
The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1
Cervi, Francesca, Saletti, Veronica, Turner, Katherine, Peron, Angela, Bulgheroni, Sara, Taddei, Matilde, La Briola, Francesca, Canevini, Maria Paola, Vignoli, Aglaia
Published in Orphanet journal of rare diseases (07.09.2020)
Published in Orphanet journal of rare diseases (07.09.2020)
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Journal Article
Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers
Vignoli, Aglaia, La Briola, Francesca, Peron, Angela, Turner, Katherine, Vannicola, Chiara, Saccani, Monica, Magnaghi, Elisabetta, Scornavacca, Giulia Federica, Canevini, Maria Paola
Published in Orphanet journal of rare diseases (02.12.2015)
Published in Orphanet journal of rare diseases (02.12.2015)
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Journal Article
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
Peron, Angela, Vignoli, Aglaia, Briola, Francesca La, Morenghi, Emanuela, Tansini, Lucia, Alfano, Rosa Maria, Bulfamante, Gaetano, Terraneo, Silvia, Ghelma, Filippo, Banderali, Giuseppe, Viskochil, David H., Carey, John C., Canevini, Maria Paola
Published in European journal of medical genetics (01.07.2018)
Published in European journal of medical genetics (01.07.2018)
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Journal Article
Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis
Di Marco, Fabiano, Terraneo, Silvia, Imeri, Gianluca, Palumbo, Giuseppina, La Briola, Francesca, Tresoldi, Silvia, Volpi, Angela, Gualandri, Lorenzo, Ghelma, Filippo, Alfano, Rosa Maria, Montanari, Emanuele, Gorio, Alfredo, Lesma, Elena, Peron, Angela, Canevini, Maria Paola, Centanni, Stefano
Published in PloS one (12.05.2016)
Published in PloS one (12.05.2016)
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Focal epilepsies in adult patients attending two epilepsy centers: Classification of drug-resistance, assessment of risk factors, and usefulness of "new" antiepileptic drugs
Gilioli, Isabella, Vignoli, Aglaia, Visani, Elisa, Casazza, Marina, Canafoglia, Laura, Chiesa, Valentina, Gardella, Elena, La Briola, Francesca, Panzica, Ferruccio, Avanzini, Giuliano, Canevini, Maria Paola, Franceschetti, Silvana, Binelli, Simona
Published in Epilepsia (Copenhagen) (01.04.2012)
Published in Epilepsia (Copenhagen) (01.04.2012)
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Journal Article
Living with Epilepsy in Adolescence in Italy: Psychological and Behavioral Impact
Turner, Katherine, La Briola, Francesca, Vignoli, Aglaia, Zambrelli, Elena, Chiesa, Valentina, Fongoni, Laura, Baldi, Olivia, Canevini, Maria Paola
Published in Healthcare (Basel) (25.02.2023)
Published in Healthcare (Basel) (25.02.2023)
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Journal Article
Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature
Vignoli, Aglaia, Scornavacca, Giulia Federica, Peron, Angela, La Briola, Francesca, Canevini, Maria Paola
Published in American journal of medical genetics. Part A (01.08.2013)
Published in American journal of medical genetics. Part A (01.08.2013)
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Journal Article
P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity
Peron, Angela, Alfano, Rosa Maria, Moore, Barry, Nellist, Mark, Pedersen, Brent, La Briola, Francesca, Spaccini, Luigina, Natacci, Federica, Recalcati, Maria Paola, Chiesa, Valentina, Arancio, Rosangela, Cavallari, Ugo, Vannicola, Chiara, Cefalo, Graziella, Maitz, Silvia, Bigoni, Stefania, Gualandri, Lorenzo, Gervasini, Cristina, Veggiotti, Pierangelo, van Ijcken, Wilfred, Vignoli, Aglaia, Bulfamante, Gaetano Pietro, Carey, John, Canevini, Maria Paola
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
Giardino, Daniela, Vignoli, Aglaia, Ballarati, Lucia, Recalcati, Maria Paola, Russo, Silvia, Camporeale, Nicole, Marchi, Margherita, Finelli, Palma, Accorsi, Patrizia, Giordano, Lucio, La Briola, Francesca, Chiesa, Valentina, Canevini, Maria Paola, Larizza, Lidia
Published in BMC genetics (12.10.2010)
Published in BMC genetics (12.10.2010)
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Journal Article
Sleep disturbances in Italian children and adolescents with epilepsy: A questionnaire study
Zambrelli, Elena, Turner, Katherine, Vignoli, Aglaia, La Briola, Francesca, Dionisio, Silvia, Malanchini, Sara, Galli, Federica, Canevini, Maria Paola
Published in Epilepsy & behavior (01.05.2020)
Published in Epilepsy & behavior (01.05.2020)
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Journal Article
Sleep disorders and neuropsychiatric disorders in a pediatric sample of tuberous sclerosis complex: a questionnaire-based study
Moavero, Romina, Voci, Alessandra, La Briola, Francesca, Matricardi, Sara, Toldo, Irene, Mancardi, Maria Margherita, Negrin, Susanna, Messana, Tullio, Mazzone, Luigi, Valeriani, Massimiliano, Curatolo, Paolo, Bruni, Oliviero
Published in Sleep medicine (01.01.2022)
Published in Sleep medicine (01.01.2022)
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Journal Article
Questionnaire-based assessment of sleep disorders in an adult population of Tuberous Sclerosis Complex
Moavero, Romina, Voci, Alessandra, Romigi, Andrea, Bisulli, Francesca, Luisi, Concetta, Matricardi, Sara, La Briola, Francesca, Mazzone, Luigi, Valeriani, Massimiliano, Curatolo, Paolo, Bruni, Oliviero
Published in Sleep medicine (01.04.2022)
Published in Sleep medicine (01.04.2022)
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