Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Annamaria Gallone"'
Autor:
Lorenzo Maggi, Sara Gibertini, Eliana Iannibelli, Annamaria Gallone, Silvia Bonanno, Daniele Cazzato, Simonetta Gerevini, Marco Moscatelli, Flavia Blasevich, Giorgia Riolo, Renato Mantegazza, Alessandra Ruggieri
Publikováno v:
Journal of Neurology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a7b9a52d34a2ad92fe2285790f40d63
https://doi.org/10.1007/s00415-023-11729-8
https://doi.org/10.1007/s00415-023-11729-8
Autor:
Alexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, Nanna Scharff Poulsen, Tanya Stojkovic, Anthony Behin, Johanna Palmio, Manu Jokela, Jan L De Bleecker, Marianne de Visser, Anneke J van der Kooi, Leroy ten Dam, Cristina Domínguez González, Lorenzo Maggi, Annamaria Gallone, Anna Kostera-Pruszczyk, Anna Macias, Anna Łusakowska, Velina Nedkova, Montse Olive, Rodrigo Álvarez-Velasco, Julia Wanschitz, Carmen Paradas, Fabiola Mavillard, Giorgia Querin, Gorka Fernández-Eulate, Ros Quinlivan, Maggie C Walter, Christophe E Depuydt, Bjarne Udd, John Vissing, Benedikt Schoser, Kristl G Claeys
Publikováno v:
Brain.
Anoctamin-5 related muscle disease is caused by biallelic pathogenic variants in the anoctamin-5 gene (ANO5) and shows variable clinical phenotypes: limb-girdle muscular dystrophy type 12 (LGMD-R12), distal muscular dystrophy type 3 (MMD3), pseudomet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::534560b061be62aae6c0816238239f34
https://doi.org/10.1093/brain/awad088
https://doi.org/10.1093/brain/awad088
Autor:
Annamaria, Gallone, Federica, Mazzi, Silvia, Bonanno, Riccardo, Zanin, Marco, Moscatelli, Domenico, Aquino, Lorenzo, Maggi
Publikováno v:
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 41(2)
The recent approval of disease-modifying therapies for spinal muscular atrophy (SMA) raised the need of alternative outcome measures to evaluate treatment efficacy. In this study, we investigated the potential of muscle quantitative MRI (qMRI) as a b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f264ecc8805fdfed3ba865c36fc9b35b
https://pubmed.ncbi.nlm.nih.gov/35832502
https://pubmed.ncbi.nlm.nih.gov/35832502
Publikováno v:
Mov Disord Clin Pract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c641e711939bd35d3b468cb896863715
https://europepmc.org/articles/PMC8287199/
https://europepmc.org/articles/PMC8287199/
Autor:
Isabella Moroni, Marcello Esposito, Annamaria Gallone, Francesco Logullo, Federico Verde, Jean-François Desaphy, Luciano Merlini, Antonella Pini, Giulia Ricci, Francesca Torri, Alessandra Ariatti, Paola Tonin, Massimiliano Filosto, Silvia de Pasqua, Rocco Liguori, Pia Bernasconi, Renato Mantegazza, Lorenzo Maggi, Gabriele Siciliano, Eleonora Canioni, Raffaella Brugnoni, Vincenzo Silani, Caterina Mariotti, Elena Pegoraro, Paola Imbrici, Lucia Ruggiero, Pietro Riguzzi, Cristina Petrelli
Publikováno v:
Neuromuscular disorders : NMD. 31(4)
Non-dystrophic myotonias and periodic paralyses are a heterogeneous group of disabling diseases classified as skeletal muscle channelopathies. Their genetic characterization is essential for prognostic and therapeutic purposes; however, several genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92f122ef36a0b70cb6e64f6392b91a9b
https://pubmed.ncbi.nlm.nih.gov/33573884
https://pubmed.ncbi.nlm.nih.gov/33573884
Autor:
Giovanni De Filippis, Annamaria Gallone, Matteo Paganelli, Brizio Tamborrino, I Drago, Pietro Apostoli, Leonardo Soleo, Rossana Rotondi, Piero Lovreglio
The contribution of biological and environmental monitoring to the risk assessment of occupational exposure to lead (Pb), arsenic (As), and antimony (Sb) was studied in 18 workers at a birdshot factory (Exposed) and in 18 control workers (Controls) b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18da4b802bd2b349fa46d5bf044423c1
http://hdl.handle.net/11379/500439
http://hdl.handle.net/11379/500439