Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Luca, Bosco"'
Autor:
Camilla MM Strano, Luca Bosco, Christian Laurini, Giacomo Sferruzza, Carla Butera, Yuri M. Falzone, Benedetta Sorrenti, Adele Ratti, Laura Tufano, Luca Leonardi, Gloria Merlonghi, Stefania Morino, Simonetta Gerevini, Ubaldo Del Carro, Matteo Garibaldi, Massimo Filippi, Stefano C Previtali
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 8, Pp 2123-2137 (2024)
Abstract Objectives Neurogenic muscle hypertrophy (NMH) is a rare condition characterized by focal muscle hypertrophy caused by chronic partial nervous injury. Given its infrequency, underlying mechanisms remain poorly understood. Inspired by two cli
Externí odkaz:
https://doaj.org/article/8d1b9752bf6e49a69cb6c940ea262b93
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Autor:
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated
Externí odkaz:
https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5
Autor:
Michelangelo Stanzani-Maserati, Maddalena De Matteis, Luca Bosco, Flavia Baccari, Corrado Zenesini, Micaela Mitolo, Chiara La Morgia, Roberto Gallassi, Sabina Capellari
Publikováno v:
Brain Sciences, Vol 14, Iss 6, p 523 (2024)
Background: This work aimed to study the Village Test (VT) in a group of patients with Alzheimer’s disease (AD) and compare the results with those of a group of patients with mild cognitive impairment (MCI) and controls. Methods: A total of 50 pati
Externí odkaz:
https://doaj.org/article/16542ccbcbf24df89cc8823b8b362855
Autor:
Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni, Enrico Bertini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract Background X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they ofte
Externí odkaz:
https://doaj.org/article/6c3ecfacd54d438aaffe437c59802931
Autor:
Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni, Enrico Bertini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/828b85fd4873405db92f1b7b033a6d0a
Autor:
Alberto A Zambon, Veronica Pini, Luca Bosco, Yuri M Falzone, Pinki Munot, Francesco Muntoni, Stefano C Previtali
Publikováno v:
Brain. 146:806-822
Hereditary motor neuropathies (HMN) were first defined as a group of neuromuscular disorders characterized by lower motor neuron dysfunction, slowly progressive length-dependent distal muscle weakness and atrophy, without sensory involvement. Their c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f1470d53f6a9085a56c3c69fa7a5a88
https://doi.org/10.1093/brain/awac452
https://doi.org/10.1093/brain/awac452
Publikováno v:
Brain Sciences, Vol 11, Iss 9, p 1237 (2021)
Since ancient times, animal models have provided fundamental information in medical knowledge. This also applies for discoveries in the field of inherited peripheral neuropathies (IPNs), where they have been instrumental for our understanding of nerv
Externí odkaz:
https://doaj.org/article/70e026df4ecd4093a24f58eed16dfa09
Autor:
Federica Graziola, Giacomo Garone, Fabrizia Stregapede, Luca Bosco, Federico Vigevano, Paolo Curatolo, Enrico Bertini, Lorena Travaglini, Alessandro Capuano
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
In recent years, genetic techniques of diagnosis have shown rapid development, resulting in a modified clinical approach to many diseases, including neurological disorders. Movement disorders, in particular those arising in childhood, pose a diagnost
Externí odkaz:
https://doaj.org/article/1874444fa32c4d48aa00f200ab5c2cc5
Autor:
Fabiana Fattori, Claudio Cherchi, Maria Beatrice Chiarini Testa, Enrico Bertini, Michele Tosi, Adele D'Amico, Adelina Carlesi, Giovanna Paglietti, Antonella Longo, Luca Bosco, Irene Mizzoni
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they often require
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d83a1cb221d40ebd770b39afb91a1f01
https://doaj.org/article/6c3ecfacd54d438aaffe437c59802931
https://doaj.org/article/6c3ecfacd54d438aaffe437c59802931
Autor:
Luca Bosco, Daniela Leone, Laura Costa Comellas, Mauro Monforte, Marika Pane, Eugenio Mercuri, Enrico Bertini, Adele D’Amico, Fabiana Fattori
Publikováno v:
Scientia
Myotubular myopathy; Novel mutation; Splicing Miopatía miotubular; Nueva mutación; Empalme Miopatia miotubular; Nova mutació; Empalmament X-linked myotubular myopathy (XLMTM) is a severe form of centronuclear myopathy, characterized by generalized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da1b8331fd30da6eb0a5138914868503
https://hdl.handle.net/11351/8474
https://hdl.handle.net/11351/8474
