PERON, ANGELA
PERON, ANGELA
Dipartimento di Scienze della Salute
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity
2025 G. Moresco, O. Rondinone, A. Mauri, R. Gorgoglione, D.M.G. Graziani, M. Dziuback, M.R. Miozzo, S.M. Sirchia, L. Pietrogrande, A. Peron, L. Fontana
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
2025 M.M.K. Wong, R.A. Kampen, R.O. Braden, G. Alagöz, M.S. Hildebrand, A.J.M. Dingemans, J. Corbally, J. Den Hoed, E. Mendoza, W.J.J. Claassen, C. Barnett, M. Barnett, A. Brusco, D. Carli, B.B.A. De Vries, F. Elmslie, G.B. Ferrero, N.A. Jansen, I.M.B.H. Van De Laar, A. Moroni, D. Mowat, L. Murray, F. Novara, A. Peron, I.E. Scheffer, F. Sirchia, S.J. Turner, A. Vignoli, A. Vino, S. Weber, W.K. Chung, M. Gerard, V. López-González, E. Palmer, A.T. Morgan, B.W. Van Bon, S.E. Fisher
Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature
2024 G. Ferrera, E. Ricci, A. Peron, E. Parrini, A. Vignoli, M.P. Canevini
Natural history of adults with KBG syndrome: a physician-reported experience
2024 A. Bayat, H. Grimes, E. de Boer, M.K. Herlin, R.S. Dahl, I.C.B. Lund, M. Bayat, A.C. Skjelmose Bolund, C.E. Gjerulfsen, P.A. Gregersen, M. Zilmer, S. Juhl, K. Cebula, E. Rahikkala, I. Maystadt, A. Peron, A. Vignoli, R.M. Alfano, F. Stanzial, F. Benedicenti, A. Currò, H. Luk, G. Jouret, E. Zurita, L. Heuft, F. Schnabel, A. Busche, H.E. Veenstra-Knol, T. Tkemaladze, P. Vrielynck, D. Lederer, K. Platzer, C.W. Ockeloen, H. Goel, K.J. Low
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
2024 B. Cavirani, C. Spagnoli, S.G. Caraffi, A. Cavalli, C.A. Cesaroni, G. Cutillo, V. De Giorgis, D. Frattini, G.B. Marchetti, S. Masnada, A. Peron, S. Rizzi, C. Varesio, L. Spaccini, A. Vignoli, M.P. Canevini, P. Veggiotti, L. Garavelli, C. Fusco
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants
2022 S. Perego, V. Alari, G. Pietra, A. Lamperti, A. Vimercati, N. Camporeale, M. Garzo, F. Cogliati, D. Milani, A. Vignoli, A. Peron, L. Larizza, T. Pizzorusso, S. Russo
Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition
2022 A. Peron, M.P. Canevini, F. Ghelma, R. Arancio, M.N. Savini, A. Vignoli
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2021 A. Peron, F. D'Arco, K.A. Aldinger, C. Smith-Hicks, C. Zweier, G.A. Gradek, K. Bradbury, A. Accogli, E.F. Andersen, P. Yee Billie Au, R. Battini, D. Beleford, L.M. Bird, A. Bouman, A. Bruel (O)yvind L(o)vold Busk, P.M. Campeau, V. Capra, C. Carlston, J. Carmichael, A. Chassevent, J. Clayton-Smith, M. J Bamshad, D.L. Earl, L. Faivre, C. Philippe, P. Ferrerira, L. Graul-Neumann, M.J. Green, D. Haffner, P. Haldipur, S. Hanna, G. Houge, J. Hurst, C. Kraus, B. Elisabeth Kristiansen, J. Lespinasse, K.J. Low, S. Ann Lynch, S. Maia, R. Mao, R. Marcinkute, C. Melver, K. Mcdonald, T. Montgomery, M. Morleo, C. Motter, A.S. Openshaw, J. Cox Palumbos, A. Shah Parikh, R. Person, M. Desai, J. Piard, R. Pfundt, M. Scala, M. Serey-Gaut, A. Slavotinek, M. Suri, C. Turner, T. Tvrdik, K. Weiss, I.M. Wentzensen, M. Zollino, B.B.A. de Vries, F. Guillemot, W.B. Dobyns, D. Viskochil, C. Dias
TUBEROUS SCLEROSIS COMPLEX: IDENTIFICATION OF THE GENETIC CAUSE IN PATIENTS WITH NO MUTATION DETECTED, AND ANALYSIS OF MOSAICISM
2021 A. Peron
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
2021 J.M. Bain, O. Thornburg, C. Pan, D. Rome-Martin, L. Boyle, X. Fan, O. Devinsky, R. Frye, S. Hamp, C.G. Keator, N.M. Lamarca, A.B.R. Maddocks, M. Madruga-Garrido, K.Y. Niederhoffer, F. Novara, A. Peron, E. Poole-Di Salvo, R. Salazar, S.A. Skinner, G. Soares, S. Goldman, W.K. Chung
Exploring the role of matrix metalloproteinases as biomarkers in sporadic lymphangioleiomyomatosis and tuberous sclerosis complex. A pilot study
2021 S. Terraneo, E.A. Lesma, S. Ancona, G. Imeri, G. Palumbo, O. Torre, L. Giuliani, S. Centanni, A. Peron, S. Tresoldi, P. Cetrangolo, F. Di Marco
Sleep and behavior in children and adolescents with tuberous sclerosis complex
2021 E. Zambrelli, K. Turner, A. Peron, A. Leidi, F. La Briola, A. Vignoli, M.P. Canevini
Epilepsy in adult patients with tuberous sclerosis complex
2021 A. Vignoli, F. La Briola, K. Turner, A. Peron, C. Vannicola, V. Chiesa, E. Zambrelli, F. Bruschi, I. Viganò, M.P. Canevini
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study
2021 C. Vannicola, L. Tassi, C. Barba, C. Boniver, M. Cossu, M. de Curtis, L.D.P.I. D'Errico, G. Didato, R. Guerrini, F. La Briola, C. Luisi, R. Mai, F. Mari, C. Marras, M. Mastrangelo, A. Peron, N. Specchio, I. Toldo, K. Turner, A. Vignoli, M.P. Canevini
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
2021 I. Catusi, M. Garzo, A. Paola Capra, S. Briuglia, C. Baldo, M.P. Canevini, R. Cantone, F. Elia, F. Forzano, O. Galesi, E. Grosso, M. Malacarne, A. Peron, C. Romano, M. Saccani, L. Larizza, M. Paola Recalcati
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies
2021 C. Parodi, E. Di Fede, A. Peron, I. Viganò, P. Grazioli, S. Castiglioni, R.H. Finnell, C. Gervasini, A. Vignoli, V. Massa
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World
2021 C. Stuart, C. Fladrowski, J. Flinn, B. Oberg, A. Peron, M. Rozenberg, C.A. Smith
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome
2021 E. Di Fede, A. Peron, E.A. Colombo, C. Gervasini, A. Vignoli
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature
2020 A. Peron, M. Iascone, E. Salvatici, B. Cavirani, D. Marchetti, S. Corno, A. Vignoli
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background
2020 M.N. Savini, A. Mingarelli, A. Peron, F. La Briola, F. Cervi, R.M. Alfano, M.P. Canevini, A. Vignoli