Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Roberto Previtali"'
Autor:
Costanza Varesio, Valentina De Giorgis, Pierangelo Veggiotti, Nardo Nardocci, Tiziana Granata, Francesca Ragona, Ludovica Pasca, Martina Maria Mensi, Renato Borgatti, Sara Olivotto, Roberto Previtali, Antonella Riva, Maria Margherita Mancardi, Pasquale Striano, Mara Cavallin, Renzo Guerrini, Francesca Felicia Operto, Alice Pizzolato, Ruggero Di Maulo, Fabiola Martino, Andrea Lodi, Carla Marini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background GLUT1 deficiency syndrome is a rare, genetically determined neurological disorder for which Ketogenic Dietary Treatment represents the gold standard and lifelong treatment. Patient registries are powerful tools providing insights
Externí odkaz:
https://doaj.org/article/e782272d1e5e409fbba62870009607c4
Autor:
Roberto Previtali, Giorgia Prontera, Enrico Alfei, Luisa Nespoli, Silvia Masnada, Pierangelo Veggiotti, Savina Mannarino
Publikováno v:
Pharmacological Research, Vol 195, Iss , Pp 106884- (2023)
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterised by abnormal cell proliferation and differentiation that affects multiple organs and can lead to the growth of hamartomas. Tuberous sclerosis complex is caused by the disi
Externí odkaz:
https://doaj.org/article/ff3bbe6209bd4fb3999a7df7e1ed0c2b
Autor:
Roberto Previtali, Alessia Leidi, Martina Basso, Giana Izzo, Cecilia Stignani, Luigina Spaccini, Maria Iascone, Pierangelo Veggiotti, Stefania Maria Bova
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
PACHTR1 is expressed in cardiovascular and neurological tissues. In the brain, it has a role in pre- and post-natal maturation. Previously reported PHACTR1-mutated patients showed early-onset epilepsy and intellectual disability. We describe two unre
Externí odkaz:
https://doaj.org/article/f65a9632b6de4621a9abe519a6db4bf0
Autor:
Sara Olivotto, Alessandra Duse, Stefania Maria Bova, Valeria Leonardi, Elia Biganzoli, Alberto Milanese, Cristina Cereda, Simona Bertoli, Roberto Previtali, Pierangelo Veggiotti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Glut1 deficiency syndrome (Glut1-DS) is a rare metabolic encephalopathy. Familial forms are poorly investigated, and no previous studies have explored aspects of Glut1-DS over the course of life: clinical pictures, intelligence, l
Externí odkaz:
https://doaj.org/article/61430e110c674fdc94c08119135ace0a
Autor:
Ramona De Amicis, Alessandro Leone, Marta Pellizzari, Andrea Foppiani, Alberto Battezzati, Chiara Lessa, Anna Tagliabue, Cinzia Ferraris, Valentina De Giorgis, Sara Olivotto, Roberto Previtali, Pierangelo Veggiotti, Simona Bertoli
Publikováno v:
Frontiers in Nutrition, Vol 10 (2023)
IntroductionThe classic ketogenic diet (cKD) is an isocaloric, high fat, low-carbohydrate diet that induces the production of ketone bodies. High consumption of dietary fatty acids, particularly long-chain saturated fatty acids, could impair nutritio
Externí odkaz:
https://doaj.org/article/5f0748ada4cc4a929d4e13fe0412dd7b
Autor:
Alessia Mauri, Alessandra Duse, Giacomo Palm, Roberto Previtali, Stefania Maria Bova, Sara Olivotto, Sara Benedetti, Francesca Coscia, Pierangelo Veggiotti, Cristina Cereda
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 21, p 13560 (2022)
GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly, and movement disorders (e.g., spasticity and dyst
Externí odkaz:
https://doaj.org/article/ed81d56e8fa94c219634a698252dec89
Autor:
Silvia Masnada, Enrico Alfei, Manuela Formica, Roberto Previtali, Patrizia Accorsi, Filippo Arrigoni, Paolo Bonanni, Renato Borgatti, Francesca Darra, Carlo Fusco, Valentina De Giorgis, Lucio Giordano, Francesca La Briola, Simona Orcesi, Elisa Osanni, Cecilia Parazzini, Lorenzo Pinelli, Erika Rebessi, Romina Romaniello, Antonino Romeo, Carlotta Spagnoli, Christian Uebler, Costanza Varesio, Maurizio Viri, Claudio Zucca, Anna Pichiecchio, Pierangelo Veggiotti
Publikováno v:
Clinical Neurophysiology. 142:112-124
Descriptions of electroencephalographic (EEG) patterns in Aicardi syndrome (AIC) have to date referred to small cohorts of up to six cases and indicated severe derangement of electrical activity in all cases. The present study was conducted to descri
Autor:
Ylenia Vaia, Roberto Previtali, Sara Malgesini, Anna Patanè, Silvia Masnada, Monica Anna Maria Lodi, Pierangelo Veggiotti, Davide Tonduti
Publikováno v:
Movement Disorders Clinical Practice. 10:701-703
Autor:
Silvia Masnada, Roberto Previtali, Paola Erba, Elena Beretta, Anna Camporesi, Luisa Chiapparini, Chiara Doneda, Maria Iascone, Marco U. A. Sartorio, Luigina Spaccini, Pierangelo Veggiotti, Maurizio Osio, Davide Tonduti, Isabella Moroni
Publikováno v:
Neurological Sciences.
Autor:
Cereda, Alessia Mauri, Alessandra Duse, Giacomo Palm, Roberto Previtali, Stefania Maria Bova, Sara Olivotto, Sara Benedetti, Francesca Coscia, Pierangelo Veggiotti, Cristina
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 21; Pages: 13560
GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly, and movement disorders (e.g., spasticity and dyst