Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Gianni Cutillo"'
Autor:
Giusi Ferrara, Gianni Cutillo, Irene Peterlongo, Eleonora Minacapilli, Maria Iascone, Pierangelo Veggiotti, Isabella Fiocchi
Publikováno v:
Annals of the Child Neurology Society, Vol 2, Iss 1, Pp 73-78 (2024)
Abstract Objective We present the cases of two sisters, both harboring the same ALDH18A1 gene mutations, who presented with a complex clinical phenotype characterized by spastic paraparesis with ataxia, epileptic encephalopathy, severe psychomotor de
Externí odkaz:
https://doaj.org/article/95eb6fea03194908b42f26f26600759b
Autor:
Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti
Publikováno v:
Epilepsia Open, Vol 9, Iss 1, Pp 106-121 (2024)
Abstract Objective Adenylosuccinate lyase (ADSL) deficiency is a rare inherited metabolic disorder with a wide phenotypic presentation, classically grouped into three types (neonatal, type I, and type II). We aim to better delineate the pathological
Externí odkaz:
https://doaj.org/article/824525d7bb3b493c91fbe235e276060d
Autor:
Alberto A. Zambon, Daniele Ghezzi, Cristina Baldoli, Gianni Cutillo, Katia Fontana, Valentina Sofia, Maria Grazia Patricelli, Alessia Nasca, Stefano Vinci, Ivana Spiga, Eleonora Lamantea, Giovanna F. Fanelli, Maria Grazia Natali Sora, Rosanna Rovelli, Antonella Poloniato, Paola Carrera, Massimo Filippi, Graziano Barera
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1844-1853 (2023)
Abstract Objectives Pathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present a novel phenotype and review the existing literature on AIFM1‐related diso
Externí odkaz:
https://doaj.org/article/439d872073f24f368bf348072bff3b08
Autor:
Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 2, p 1248 (2024)
The genetic causes of epilepsies and developmental and epileptic encephalopathies (DEE) with onset in early childhood are increasingly recognized. Their outcomes vary from benign to severe disability. In this paper, we wished to retrospectively revie
Externí odkaz:
https://doaj.org/article/ada6bc1d4b3e4764896ca76a1f59cb82
Autor:
Giovanni Napoli, Martina Rubin, Gianni Cutillo, Paride Schito, Tommaso Russo, Angelo Quattrini, Massimo Filippi, Nilo Riva
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 15, p 12096 (2023)
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with variable phenotypic expressions which has been associated with autonomic dysfunction. The cardiovascular system seems to be affected especially in the context of bulbar involveme
Externí odkaz:
https://doaj.org/article/c900c1a228fa4eef9bf197213491d7f1
Publikováno v:
Neurobiology of Disease, Vol 145, Iss , Pp 105056- (2020)
Mutations in VPS35 (PARK17), a key molecule in the retromer complex, are a rare cause of autosomal dominant Parkinson's disease (PD), the second most common neurodegenerative disorder. VPS35 exerts crucial functions within the cell in terms of regula
Externí odkaz:
https://doaj.org/article/47f8dc7c98804868875c6690717fb099
Autor:
Gianni Cutillo, Raffaello Bonacchi, Giordano Cecchetti, Anna Bellini, Marco Vabanesi, Alberto Zambon, Maria Grazia Natali Sora, Cristina Baldoli, Ubaldo Del Carro, Fabio Minicucci, Giovanna F. Fanelli, Massimo Filippi
Publikováno v:
Seizure. 109:45-49
Autor:
Valeria Brazzoduro, Enrico Alfei, Mariano Lanna, Marina Antonella Balestriero, Stefania Zambrano, Barbara Scelsa, Andrea Righini, Gianni Cutillo, Mariangela Rustico, Cecilia Parazzini
Publikováno v:
The Cerebellum. 21:944-953
Data about the neurological prognosis of isolated cerebellar hypoplasia in utero are scant and inconsistent. In this monocentric retrospective study, we describe the neurodevelopmental outcomes in a series of children with isolated cerebellar hypopla
Publikováno v:
Cellular and Molecular Immunology
Gangliosides are structurally and functionally polymorphic sialic acid containing glycosphingolipids that are widely distributed in the human body. They play important roles in protecting us against immune attacks, yet they can become targets for aut
Publikováno v:
Epilepsy & Behavior. 117:107815
We conducted a systematic review of anti-seizure medications (ASMs) and their efficacy for the control of focal to bilateral tonic-clonic seizures (FBTCS). FBTCS, especially when nocturnal, are recognized as one of the major risk factors for Sudden U