Zobrazeno 1 - 10
of 159
pro vyhledávání: '"Vincenzo Donadio"'
Autor:
Alessandro Furia, Raffaello Ditaranto, Elena Biagini, Vanda Parisi, Alex Incensi, Sara Parisini, Rocco Liguori, Vincenzo Donadio
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-5 (2024)
Abstract Background Fabry disease is a multisystemic disorder characterized by deposition of globotriaosylceramide (Gb3) and its deacylated form in multiple organs, sometimes localized in specific systems such as the nervous or cardiovascular system.
Externí odkaz:
https://doaj.org/article/3d04e2c9565448a3adf228532aa4bf2c
Autor:
Irene Capelli, Roberta Di Costanzo, Valeria Aiello, Sarah Lerario, Paola De Giovanni, Marcello Montevecchi, Davide Cerretani, Vincenzo Donadio, Gaetano La Manna, Renzo Mignani
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Fabry disease (FD) is a rare X‐linked lysosomal storage disorder caused by variants in GLA gene leading to deficient α‐galactosidase A enzyme activity. This deficiency leads to the accumulation of glycosphingolipids, particul
Externí odkaz:
https://doaj.org/article/7a800f2ebbec41d495e08d793c3df641
Autor:
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/c484d23f8b7247efa94004343fba4687
Autor:
Chelva Janarthanam, Griffin Clabaugh, Zerui Wang, Bradley R. Melvin, Ileia Scheibe, Huajun Jin, Vellareddy Anantharam, Ramona J. B. Urbauer, Jeffrey L. Urbauer, Jiyan Ma, Arthi Kanthasamy, Xuemei Huang, Vincenzo Donadio, Wenquan Zou, Anumantha G. Kanthasamy
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 11, p 5988 (2024)
Alpha-synuclein seed amplification assays (αSyn-SAAs) have emerged as promising diagnostic tools for Parkinson’s disease (PD) by detecting misfolded αSyn and amplifying the signal through cyclic shaking and resting in vitro. Recently, our group a
Externí odkaz:
https://doaj.org/article/a9f292fe8a414cc8837b1803de0658c1
Autor:
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Anderson–Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha
Externí odkaz:
https://doaj.org/article/33ade6485def44aeb5ff52fc177b417a
Autor:
Susan Mohamed, Giovanna Lopane, Loredana Sabattini, Cinzia Scandellari, Diletta Zardi, Vincenzo Donadio, Giovanni Rizzo, Alessandro Perrone, Alessandra Lugaresi, Manuela Contin
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Background and AimLimited data are available in clinical settings on the pharmacokinetics of delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD). We investigated the use of cannabis-based products in neurological practice, monitoring patients' s
Externí odkaz:
https://doaj.org/article/184e71b0f2454c6da1cbabde6af83a8d
Autor:
Angela Mammana, Simone Baiardi, Marcello Rossi, Alessia Franceschini, Vincenzo Donadio, Sabina Capellari, Byron Caughey, Piero Parchi
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 559-564 (2020)
Abstract Prion real‐time quaking‐induced conversion (RT‐QuIC) is an ultrasensitive assay detecting pathological aggregates of misfolded prion protein in biospecimens. We studied 71 punch biopsy skin samples of 35 patients with Creutzfeldt–Jak
Externí odkaz:
https://doaj.org/article/7a19d14ec6b8466983c8222898b3286d
Autor:
Elena Antelmi, Fabio Pizza, Vincenzo Donadio, Marco Filardi, Yuri L. Sosero, Alex Incensi, Stefano Vandi, Monica Moresco, Raffaele Ferri, Sara Marelli, Luigi Ferini‐Strambi, Rocco Liguori, Giuseppe Plazzi
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1872-1876 (2019)
Abstract To search for discriminating biomarkers, 30 patients with idiopathic rapid‐eye‐movements sleep behavior disorder (iRBD) were compared with 17 patients with RBD within narcolepsy type 1. Both groups underwent extensive examinations, inclu
Externí odkaz:
https://doaj.org/article/795d386bb8824d61ac655fc5aaaf5298
Publikováno v:
Molecules, Vol 26, Iss 23, p 7358 (2021)
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A). As a result, the main glycosphingolipid subst
Externí odkaz:
https://doaj.org/article/e9e58884895249a18c9b25242c490657
Autor:
Matteo Foschi, Veria Vacchiano, Patrizia Avoni, Alex Incensi, Stella Battaglia, Vincenzo Donadio, Elena Panzeri, Maria Teresa Bassi, Rocco Liguori, Giovanni Rizzo
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
X-linked adrenoleukodystrophy (x-ALD) is a rare genetic disorder caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid transporter. Clinically, x-ALD can present a wide spectrum of different phenotypes: as
Externí odkaz:
https://doaj.org/article/10a18874999c45508e9c54dee3c02c60