PERON, ANGELA
PERON, ANGELA
Dipartimento di Scienze della Salute
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
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
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
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
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
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
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome
2021 E. Di Fede, A. Peron, E.A. Colombo, C. Gervasini, A. Vignoli
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
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
TUBEROUS SCLEROSIS COMPLEX: IDENTIFICATION OF THE GENETIC CAUSE IN PATIENTS WITH NO MUTATION DETECTED, AND ANALYSIS OF MOSAICISM
2021 A. Peron
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
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
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
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes
2020 A. Peron, I. Catusi, M.P. Recalcati, L. Calzari, L. Larizza, A. Vignoli, M.P. Canevini
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype
2020 A. Peron, F. Novara, F. La Briola, E. Merati, E. Giannusa, E. Segalini, G. Anniballi, A. Vignoli, R. Ciccone, M.P. Canevini
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
2020 G. Cappuccio, C. Sayou, P.L. Tanno, E. Tisserant, A.-. Bruel, S.E. Kennani, J. Sa, K.J. Low, C. Dias, M. Havlovicova, M. Hancarova, E.E. Eichler, F. Devillard, S. Moutton, J. Van-Gils, C. Dubourg, S. Odent, B. Gerard, A. Piton, T. Yamamoto, N. Okamoto, H. Firth, K. Metcalfe, A. Moh, K.A. Chapman, E. Aref-Eshghi, J. Kerkhof, A. Torella, V. Nigro, L. Perrin, J. Piard, G. Le Guyader, T. Jouan, C. Thauvin-Robinet, Y. Duffourd, J.K. George-Abraham, C.A. Buchanan, D. Williams, U. Kini, K. Wilson, V. Nigro, N. Brunetti-Pierri, G. Casari, G. Cappuccio, A. Torella, M. Pinelli, F. Musacchia, M. Mutarelli, D. Carrella, G. Vitiello, V. Capra, G. Parenti, V. Leuzzi, A. Selicorni, S. Maitz, S. Banfi, M. Zollino, M. Montomoli, D. Milani, C. Romano, A. Tummolo, D. De Brasi, A. Coppola, C. Santoro, A. Peron, C. Pantaleoni, R. Castello, S. D'Arrigo, S.B. Sousa, R.C.M. Hennekam, B. Sadikovic, J. Thevenon, J. Govin, A. Vitobello, N. Brunetti-Pierri
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
Snyder-Robinson syndrome : Synonym: Spermine Synthase Deficiency
2020 C. E Schwartz, A. Peron, M. Jo Kutler
The TAND checklist: A useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1
2020 F. Cervi, V. Saletti, K. Turner, A. Peron, S. Bulgheroni, M. Taddei, F. La Briola, M.P. Canevini, A. Vignoli