Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Serena Pellegrin"'
Autor:
Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi, Elisa Giarola, Isabella Brambilla, Federica Pieroni, Marco Perulli, Domenica Battaglia, Nicola Specchio, Francesca Ragona, Tiziana Granata, Simona Pellacani, Annarita Ferrari, Carla Marini, Sara Matricardi, Elisabetta Cesaroni, Lucio Giordano, Patrizia Accorsi, Vittorio Sciruicchio, Paolo Tinuper, Tullio Messana, Angelo Russo, Dario Pruna, Margherita Nosadini, Valentina De Giorgis, Davide Caputo, Residras Collaboration Group, Serena Pellegrin, Tommaso Lo Barco, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 517-534 (2023)
Abstract Objectives We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools an
Externí odkaz:
https://doaj.org/article/b4967b84c41b483295572c1cca76ccff
Autor:
Alessandro Failo, Paola Venuti, Patrizia Villotti, Stefan Schmalholz, Nicola Chistè, Bernd Raffeiner, Michela Salandin, Serena Pellegrin, Lydia Pescollderungg, Mariantonietta Mazzoldi
Publikováno v:
Adolescents, Vol 1, Iss 4, Pp 481-499 (2021)
Chronic pain in youth has an unsung etiology and limited treatment options. Affected adolescents show difficulties in different functioning domains, and their parents can develop associated distress, which negatively influences the adolescent’s cap
Externí odkaz:
https://doaj.org/article/73e923ee368946fcba6a8d1975939b88
Autor:
Emanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis, Elisa Bettella, Lucia Verrillo, Roberta Polli, Meriel McEntagart, Laura Licchetta, Robertino Dilena, Stefano D’Arrigo, Claudia Ciaccio, Silvia Esposito, Vincenzo Leuzzi, Annalaura Torella, Demetrio Baldo, Fortunato Lonardo, Giulia Bonato, Serena Pellegrin, Franco Stanzial, Renata Posmyk, Ewa Kaczorowska, Miryam Carecchio, Monika Gos, Sylwia Rzońca-Niewczas, Maria Giuseppina Miano, Alessandra Murgia
Publikováno v:
European Journal of Human Genetics. 31:202-215
Lysine-specific demethylase 5C (KDM5C) has been identified as an important chromatin remodeling gene, contributing to X-linked neurodevelopmental disorders (NDDs). The KDM5C gene, located in the Xp22 chromosomal region, encodes the H3K4me3-me2 eraser
Autor:
Stefan Schmalholz, Alessandro Failo, Mariantonietta Mazzoldi, Patrizia Villotti, Lydia Pescollderungg, Serena Pellegrin, Michela Salandin, Nicola Chistè, Paola Venuti, Bernd Raffeiner
Publikováno v:
Adolescents, Vol 1, Iss 37, Pp 481-499 (2021)
Adolescents; Volume 1; Issue 4; Pages: 481-499
Adolescents; Volume 1; Issue 4; Pages: 481-499
Chronic pain in youth has an unsung etiology and limited treatment options. Affected adolescents show difficulties in different functioning domains, and their parents can develop associated distress, which negatively influences the adolescent’s cap
Autor:
Lydia Pescollderungg, Vanessa Cecchin, Federico Mercolini, Lucio Parmeggiani, Serena Pellegrin
Publikováno v:
Journal of Pediatric Neurology. 18:190-194
Acute or subacute ataxia in young children is rare and, in most cases, the diagnosis of the underlying etiology can be challenging. An extensive number of possible causes must be considered when approaching a child with ataxia. We report the case of
Autor:
Helena C. Maltezou, Karina A. Top, Satinder Aneja, Manoja Kumar Das, Jane Gidudu, Anju Shrestha, James M. Oleske, Beckie N. Tagbo, Ronit M. Pressler, Jo M. Wilmshurst, Jyoti Joshi, Niranjan Bhat, Merita Kucuku, Cecil D. Hahn, Janet S. Soul, Elissa G. Yozawitz, Geraldine B. Boylan, Flor M. Munoz, Serena Pellegrin, Paul T. Heath, Sanie S. S. Sesay, Michael A. Padula, Max Wiznitzer, Sonali Kochhar, Kollencheri Puthenveettil Vinayan, Lee Meller, Aung Soe
Publikováno v:
Vaccine, 37(52), 7596-7609. Elsevier
Vaccine
Vaccine
Autor:
Serena Pellegrin, Felice D'Arco, J. Helen Cross, Sophia Varadkar, Torsten Baldeweg, Suresh Pujar, Gaetano Cantalupo
Publikováno v:
Neurology. 96(2)
ObjectiveTo verify safety and efficacy of the corticosteroid-sparing drug azathioprine (AZA) in Rasmussen syndrome (RS), we retrospectively analyzed a cohort of patients with RS recruited in a single pediatric neuroscience center.MethodsWe compared o
Autor:
Gianluca Casara, Francesco Benedicenti, Andrew A. Hicks, André Heimbach, Francisco S. Domingues, Peter Lackner, Anne Picard, Lucio Parmeggiani, Per Hoffmann, Claudia B. Volpato, Deborah Mascalzoni, Christine Schwienbacher, Franco Stanzial, Eva König, Peter P. Pramstaller, Chiara Cantaloni, Serena Pellegrin
Purpose Mutations in SZT2 have been previously reported in several cases of early onset epilepsy and intellectual disability. In this study we investigate potential causal mutations in two male siblings affected by early onset epilepsy, intellectual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f207dd0845127c31e2b6a3465469c9
https://eplus.uni-salzburg.at/doi/10.1016/j.seizure.2018.12.021
https://eplus.uni-salzburg.at/doi/10.1016/j.seizure.2018.12.021
Autor:
Elena Gusson, Enza Maria Valente, Gaetano Cantalupo, Andrea Poretti, Serena Pellegrin, Elena Piretti, Riccardo Masson
Poretti-Boltshauser syndrome (PBS) is a recently described cerebellar disorder characterized by cerebellar dysplasia with cysts and an enlarged and square-like shaped fourth ventricle.1 The clinical phenotype includes nonprogressive cerebellar ataxia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c31e55687669500cca1a24f39c85097
http://hdl.handle.net/11562/960894
http://hdl.handle.net/11562/960894