Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Ettore Salsano"'
Autor:
Marco Moscatelli, Chiara Benzoni, Fabio M. Doniselli, Mattia Verri, Riccardo Pascuzzo, Domenico Aquino, Federica Mazzi, Alessandra Erbetta, Ettore Salsano
Publikováno v:
European Radiology Experimental, Vol 7, Iss 1, Pp 1-6 (2023)
Abstract In adrenoleukodystrophy (ALD), contrast enhancement (CE) is a disease activity marker, but there is uncertainty about the optimal delay, if any, between contrast injection and magnetic resonance imaging (MRI) acquisition to avoid false-negat
Externí odkaz:
https://doaj.org/article/a913afe9c8a14ecf8407f210613d01c4
Autor:
ETTORE SALSANO, Chiara Benzoni
Publikováno v:
Free Neuropathology, Vol 4 (2023)
Externí odkaz:
https://doaj.org/article/b020a240e84349bfb4c321962e458b07
Autor:
Ettore Salsano, Chiara Benzoni
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 1, Pp 98-100 (2022)
Externí odkaz:
https://doaj.org/article/19297c3371194396b7e66af31a587b29
Autor:
Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 83-93 (2020)
Abstract Objective Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with R
Externí odkaz:
https://doaj.org/article/0451d47dda844ada9b1700050648a958
Autor:
Marta Dossena, Gloria Bedini, Paola Rusmini, Elisa Giorgetti, Alessandra Canazza, Valentina Tosetti, Ettore Salsano, Anna Sagnelli, Caterina Mariotti, Cinzia Gellera, Stefania Elena Navone, Giovanni Marfia, Giulio Alessandri, Fabio Corsi, Eugenio Agostino Parati, Davide Pareyson, Angelo Poletti
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e112746 (2014)
Spinal and bulbar muscular atrophy (SBMA) or Kennedy's disease is an X-linked CAG/polyglutamine expansion motoneuron disease, in which an elongated polyglutamine tract (polyQ) in the N-terminal androgen receptor (ARpolyQ) confers toxicity to this pro
Externí odkaz:
https://doaj.org/article/0823a55f6275454f8f227e0deaa25077
Autor:
Chiara Benzoni, Marco Moscatelli, Laura Farina, Stefania Magri, Claudia Ciano, Vidmer Scaioli, Sara Alverà, Gabriella Cammarata, Stefania Bianchi-Marzoli, Massimo Castellani, Felicia Margherita Zito, Giorgio Marotta, Sylvie Piacentini, Alberto Villacara, Renato Mantegazza, Cinzia Gellera, João Durães, Ana Gouveia, Anabela Matos, Maria do Carmo Macário, Davide Pareyson, Franco Taroni, Daniela Di Bella, Ettore Salsano
Publikováno v:
Journal of Neurology.
Autor:
Roberta Di Giacomo, Ettore Salsano, Francesco Deleo, Chiara Pastori, Giuseppe Didato, Andrea Stabile, Rosalba Ferrario, Anna Rita Giovagnoli, Chiara Benzoni, Lidia Sarro, Elisa Visani, Laura Canafoglia
Publikováno v:
Journal of Neurology. 269:5173-5178
Autor:
Wolfgang Köhler, Marc Engelen, Florian Eichler, Robin Lachmann, Ali Fatemi, Jacinda Sampson, Ettore Salsano, Josep Gamez, Maria Judit Molnar, Sílvia Pascual, Maria Rovira, Anna Vilà, Guillem Pina, Itziar Martín-Ugarte, Adriana Mantilla, Pilar Pizcueta, Laura Rodríguez-Pascau, Estefania Traver, Anna Vilalta, María Pascual, Marc Martinell, Uwe Meya, Fanny Mochel, Eavan Mc Govern, Elise Yazbeck, Magali Barbier, Marie-Pierre Luton, Françoise Pousset, Jean-Yves Hogrel, Isaac Adanyeguh, Florian Then Bergh, Caroline Bergner, Astrid Unterlauft, Hannes Roicke, Karl-Titus Hoffmann, Cordula Scherlach, Andrea Kalb, Bianca Meilick, Mandy Reuschel, Silvia Fenu, Elena Mauro, Elaine Murphy, Gauri Krishna, Tiggy Beyene, Alba Sierra, Sara Quiñoa, Anna Belen Canovas, Zoltan Grosz, Báthori Györgyi, S.I. van de Stadt, I.C. Huffnagel, W.J.C. van Ballegoij, M.M.C. Voermans, Reza Seyedsadjadi, Camille Corre, Neha Godbole, Natalie Rose Grant, Claudia Maria Brito Pires, Melissa Trovato, Nancy Yeh, Jordan Goodman, Jennifer Keller, Chris Joseph, Keith Van Haren, Sarada Sakamuri, Tina Duong, Lila Perrone, Stephanie Tran, Sally Dunaway Young, Syed Hashmi
Publikováno v:
The Lancet Neurology, 22(2), 127-136. Lancet Publishing Group
Background: Adult patients with adrenoleukodystrophy have a poor prognosis owing to development of adrenomyeloneuropathy. Additionally, a large proportion of patients with adrenomyeloneuropathy develop life-threatening progressive cerebral adrenoleuk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb8695c85f230bdb0e4f78481480d58
https://pure.amc.nl/en/publications/safety-and-efficacy-of-leriglitazone-for-preventing-disease-progression-in-men-with-adrenomyeloneuropathy-advance(6d25a248-5b0d-4f76-b918-9f438ca0dcf9).html
https://pure.amc.nl/en/publications/safety-and-efficacy-of-leriglitazone-for-preventing-disease-progression-in-men-with-adrenomyeloneuropathy-advance(6d25a248-5b0d-4f76-b918-9f438ca0dcf9).html
Extensive leukoencephalopathy in coeliac disease: report of three cases and review of the literature
Publikováno v:
Neurological Sciences. 43:3443-3447
Autor:
Luisa Chiapparini, Valeria Tiranti, Alessia Nasca, Ivano Di Meo, Silvia Fenu, Chiara Cavestro, Celeste Panteghini, Ettore Salsano, Barbara Garavaglia, Davide Pareyson, Chiara Reale
Publikováno v:
Neurogenetics
PLA2G6 is the causative gene for a group of autosomal recessive neurodegenerative disorders known as PLA2G6-associated neurodegeneration (PLAN). We present a case with early-onset parkinsonism, ataxia, cognitive decline, cerebellar atrophy, and brain