Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Gaetano, Terrone"'
Autor:
Melissa Borrelli, Gaetano Terrone, Roberto Evangelisti, Flora Fedele, Adele Corcione, Francesca Santamaria
Publikováno v:
Pediatrics and Neonatology, Vol 64, Iss 2, Pp 109-118 (2023)
Neuromuscular disease (NMDs) encompass a heterogeneous group of genetic disorders, with respiratory problems of variable intensity and progression described at any pediatric age, from infancy to adolescence, and they are largely associated with signi
Externí odkaz:
https://doaj.org/article/f4bdfea8bf7840e3a60f5a7f4e9ae9f1
Autor:
Giovanni Vitale, Gaetano Terrone, Samuel Vitale, Francesca Vitulli, Salvatore Aiello, Carmela Bravaccio, Simone Pisano, Ilaria Bove, Francesca Rizzo, Panduranga Seetahal-Maraj, Thomas Wiese
Publikováno v:
Biomedicines, Vol 11, Iss 12, p 3241 (2023)
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by benign tumor growth in multiple organs, including the brain, kidneys, heart, eyes, lungs, and skin. Pathogenesis stems from mutations in either the TSC1 or TSC2
Externí odkaz:
https://doaj.org/article/fe9c886d4d4c480388e393abb8435fb0
Autor:
Alessia Salamone, Gaetano Terrone, Rossella Di Sapia, Silvia Balosso, Teresa Ravizza, Luca Beltrame, Ilaria Craparotta, Laura Mannarino, Sara Raimondi Cominesi, Massimo Rizzi, Alberto Pauletti, Sergio Marchini, Luca Porcu, Till S. Zimmer, Eleonora Aronica, Matthew During, Brett Abrahams, Shinichi Kondo, Toshiya Nishi, Annamaria Vezzani
Publikováno v:
Neurobiology of Disease, Vol 173, Iss , Pp 105835- (2022)
Therapies for epilepsy mainly provide symptomatic control of seizures since most of the available drugs do not target disease mechanisms. Moreover, about one-third of patients fail to achieve seizure control. To address the clinical need for disease-
Externí odkaz:
https://doaj.org/article/a8d72f20e7364f5fb631d3c581366d20
Autor:
Bernadette Donnarumma, Maria Pia Riccio, Gaetano Terrone, Melania Palma, Pietro Strisciuglio, Iris Scala
Publikováno v:
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-6 (2021)
Abstract Background White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typical f
Externí odkaz:
https://doaj.org/article/f7b9d998eb274bbc88549d2cffb2f1d0
Autor:
Massimo Rizzi, Claudia Brandt, Itai Weissberg, Dan Z. Milikovsky, Alberto Pauletti, Gaetano Terrone, Alessia Salamone, Federica Frigerio, Wolfgang Löscher, Alon Friedman, Annamaria Vezzani
Publikováno v:
Neurobiology of Disease, Vol 124, Iss , Pp 373-378 (2019)
The lack of early biomarkers of epileptogenesis precludes a sound prediction of epilepsy development after acute brain injuries and of the natural course of the disease thus impairing the development of antiepileptogenic treatments. We investigated w
Externí odkaz:
https://doaj.org/article/f9160d3fc2024bb3be2c221732f815d7
Autor:
Kathleen Rooney, Liselot van der Laan, Slavica Trajkova, Sadegheh Haghshenas, Raissa Relator, Peter Lauffer, Niels Vos, Michael A. Levy, Nicola Brunetti-Pierri, Gaetano Terrone, Cyril Mignot, Boris Keren, Thierry B. de Villemeur, Catharina M.L. Volker-Touw, Nienke Verbeek, Jasper J. van der Smagt, Renske Oegema, Alfredo Brusco, Giovanni B. Ferrero, Mala Misra-Isrie, Ron Hochstenbach, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Publikováno v:
Rooney, K, van der Laan, L, Trajkova, S, Haghshenas, S, Relator, R, Lauffer, P, Vos, N, Levy, M A, Brunetti-Pierri, N, Terrone, G, Mignot, C, Keren, B, de Villemeur, T B, Volker-Touw, C M L, Verbeek, N, van der Smagt, J J, Oegema, R, Brusco, A, Ferrero, G B, Misra-Isrie, M, Hochstenbach, R, Alders, M, Mannens, M M A M, Sadikovic, B, van Haelst, M M & Henneman, P 2023, ' DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder ', Genetics in Medicine, vol. 25, no. 8, 100871 . https://doi.org/10.1016/j.gim.2023.100871
Genetics in Medicine, 25(8):100871. Lippincott Williams and Wilkins
Genetics in Medicine, 25(8):100871. Lippincott Williams and Wilkins
Purpose: HNRNPU haploinsufficiency is associated with Developmental and Epileptic Encephalopathy 54. This neurodevelopmental disorder is characterized by developmental delay, intellectual disability, speech impairment, and early onset epilepsy. We pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b39a7c8d2d6a6e8f7ab2a18415690426
https://research.vumc.nl/en/publications/51994147-a11d-4536-a701-74fa408fd4a8
https://research.vumc.nl/en/publications/51994147-a11d-4536-a701-74fa408fd4a8
Autor:
Ferdinando Barretta, Fabiana Uomo, Simona Fecarotta, Lucia Albano, Daniela Crisci, Alessandra Verde, Maria Grazia Fisco, Giovanna Gallo, Daniela Dottore Stagna, Maria Rosaria Pricolo, Marianna Alagia, Gaetano Terrone, Alessandro Rossi, Giancarlo Parenti, Margherita Ruoppolo, Cristina Mazzaccara, Giulia Frisso
Publikováno v:
Genes; Volume 14; Issue 5; Pages: 980
Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bba07e2bfd58e6f5f2bdd4d99e488da
Autor:
Giuseppe Gobbi, Gaetano Terrone, Stefano Francione, Mino Zucchelli, Angelo Russo, Ennio Del Giudice, Matteo Martinoni, Angelo Guerra
Publikováno v:
Epileptic Disorders. 23:775-785
We describe a patient with focal epilepsy characterized by ictal asystole episodes and low-grade tumour over the left temporal neocortex. Non-invasive pre-surgical evaluation showed an epileptogenic zone extended beyond the low-grade tumour. This ext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f5d2f39ea9d010931dc903a4339d79
https://doi.org/10.1684/epd.2021.1318
https://doi.org/10.1684/epd.2021.1318
Autor:
Francesco Nunziata, Edoardo Vassallo, Maria Alessio, Alfonso Romano, Andrea Lo Vecchio, Alessandra D’Amico, Giuseppe Buono, Eugenia Bruzzese, Alfredo Guarino, Gaetano Terrone
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 43(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::812da3e51515716109c98817cd768448
https://pubmed.ncbi.nlm.nih.gov/35471743
https://pubmed.ncbi.nlm.nih.gov/35471743