Zobrazeno 1 - 10
of 439
pro vyhledávání: '"Mignarri A"'
Autor:
Sabrina Lucchiari, Francesco Fortunato, Giovanni Meola, Andrea Mignarri, Serena Pagliarani, Stefania Corti, Giacomo P. Comi, Dario Ronchi
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in CLCN1 that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarizat
Externí odkaz:
https://doaj.org/article/3f4c069e461a4546a1bbd4c61a7a6bbc
Akademický článek
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Autor:
Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel, Antonio Federico
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-18 (2021)
Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare, chronic, progressive, neurodegenerative disorder requiring life-long care. Patients with CTX often experience a diagnostic delay. Although early diagnosis and treatment initiation ca
Externí odkaz:
https://doaj.org/article/56eced4666ed4a9294999a269eca7839
Autor:
Federica Ginanneschi, Fabio Giannini, Francesco Sicurelli, Carla Battisti, Giorgio Capoccitti, Sabina Bartalini, Andrea Mignarri, Nila Volpi, David Cioncoloni, Laura Franci, Nicola De Stefano, Alessandro Rossi
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundClinical presentation, electrophysiological subtype, and outcome of the Guillain–Barre' Syndrome (GBS) may differ between patients from different geographical regions. This study aims to assess clinical–neurophysiological features of an
Externí odkaz:
https://doaj.org/article/b1bbb750cc054deaae3c0be12f8a38a0
Autor:
Lopergolo, Diego, Bianchi, Silvia, Gallus, Gian Nicola, Locci, Sara, Pucci, Barbara, Leoni, Valerio, Gasparini, Daniele, Tardelli, Elisa, Chincarini, Andrea, Sestini, Stelvio, Santorelli, Filippo Maria, Zetterberg, Henrik, De Stefano, Nicola, Mignarri, Andrea
Publikováno v:
Journal of Medical Genetics; Apr2024, Vol. 61 Issue 4, p332-339, 14p
Akademický článek
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Autor:
Irene Degrassi, Chiara Amoruso, Giuseppe Giordano, Marina Del Puppo, Andrea Mignarri, Maria Teresa Dotti, Mauro Naturale, Gabriella Nebbia
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons. Most cases are diagnosed and treated in the
Externí odkaz:
https://doaj.org/article/2c64eb125fba4cfd8818d3f403fd2446
Autor:
Ginanneschi, Federica, Mignarri, Andrea, Lucchiari, Sabrina, Ulzi, Gianna, Comi, Giacomo P., Rossi, Alessandro, Dotti, Maria Teresa
Publikováno v:
In Neurophysiologie Clinique / Clinical Neurophysiology June 2017 47(3):247-252
Autor:
Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
Background and Objectives: Hereditary spastic paraplegias (HSPs) are a group of inherited rare neurologic disorders characterized by length-dependent degeneration of the corticospinal tracts and dorsal columns, whose prominent clinical feature is rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a26546f0ba57414708f9d19347a587b8
https://hdl.handle.net/11391/1512578
https://hdl.handle.net/11391/1512578
Publikováno v:
Cerebellum (London, England).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::174edc6577110e15d3e5be729f8d2d6c
https://pubmed.ncbi.nlm.nih.gov/35851639
https://pubmed.ncbi.nlm.nih.gov/35851639