Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Salvatore, Rossi"'
Autor:
Vittorio Riso, Tommaso Filippo Nicoletti, Salvatore Rossi, Maria Gabriella Vita, Perna Alessia, Daniele Di Natale, Gabriella Silvestri
Publikováno v:
Brain Sciences, Vol 13, Iss 1, p 26 (2022)
Neurological involvement is relatively common in Erdheim–Chester disease (ECD), a rare clonal disorder of histiocytic myeloid precursors characterized by multisystem involvement. In ECD patients, neurological symptoms can occur either at onset or d
Externí odkaz:
https://doaj.org/article/3c7fd08c29c34611a1847427ab1e0d6c
Autor:
Alessia Perna, Daria Maccora, Salvatore Rossi, Tommaso Filippo Nicoletti, Maria Assunta Zocco, Vittorio Riso, Anna Modoni, Antonio Petrucci, Venanzio Valenza, Antonio Grieco, Luca Miele, Gabriella Silvestri
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Myotonic dystrophy type 1 (DM1, MIM #160900), the most common muscular dystrophy among adults, is a multisystem disorder, which affects, besides the skeletal muscle, several other tissues and/or organs, including the gastrointestinal apparatus, with
Externí odkaz:
https://doaj.org/article/30aeafed33e8401a93f3be078007e799
Autor:
Daniele Galatolo, Rosanna Trovato, Arianna Scarlatti, Salvatore Rossi, Gemma Natale, Giovanna De Michele, Melissa Barghigiani, Ettore Cioffi, Alessandro Filla, Giusi Bilancieri, Carlo Casali, Filippo M. Santorelli, Gabriella Silvestri, Alessandra Tessa
Publikováno v:
neurogenetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8c335ff570baa71a46e69928369c1f62
https://doi.org/10.1007/s10048-023-00717-9
https://doi.org/10.1007/s10048-023-00717-9
Autor:
Tommaso F. Nicoletti, Salvatore Rossi, Maria Gabriella Vita, Alessia Perna, Gisella Guerrera, Federica Lino, Chiara Iacovelli, Daniele Di Natale, Anna Modoni, Luca Battistini, Gabriella Silvestri
Publikováno v:
Journal of Neurology. 269:5085-5092
Background Cognitive and behavioural symptoms due to involvement of the central nervous system (CNS) are among the main clinical manifestations of Myotonic Dystrophy type 1 (DM1). Such symptoms affect patients’ quality of life and disease awareness
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f889b6e3081b7eb8682daf3950aa4829
https://doi.org/10.1007/s00415-022-11165-0
https://doi.org/10.1007/s00415-022-11165-0
Autor:
Vittorio Riso, Salvatore Rossi, Tommaso F. Nicoletti, Alessandra Tessa, Lorena Travaglini, Ginevra Zanni, Chiara Aiello, Alessia Perna, Melissa Barghigiani, Maria Grazia Pomponi, Filippo M. Santorelli, Gabriella Silvestri
Publikováno v:
Brain Sciences, Vol 11, Iss 2, p 246 (2021)
The molecular characterization of Hereditary Spastic Paraplegias (HSP) and inherited cerebellar ataxias (CA) is challenged by their clinical and molecular heterogeneity. The recent application of Next Generation Sequencing (NGS) technologies is incre
Externí odkaz:
https://doaj.org/article/8ff70265ba0c443d839e5c2700dc93c1
Autor:
Marco Luigetti, Angela Romano, Andrea Di Paolantonio, Giulia Bisogni, Salvatore Rossi, Amelia Conte, Francesca Madia, Mario Sabatelli
Publikováno v:
Brain Sciences, Vol 10, Iss 6, p 383 (2020)
Objective: Segmental demyelination is the pathological hallmark of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), but other elementary lesions are frequently observed, configuring a series of different pathological pictures. In thi
Externí odkaz:
https://doaj.org/article/cd92944ae25747e79e8147d9be3fc2d0
Autor:
Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Re
Externí odkaz:
https://doaj.org/article/88d19cc830784200a8ba57f6b7fe7905
Autor:
Vittorio Riso, Piergiorgio La Rosa, Massimo Santoro, Gabriella Silvestri, Pietro Chiurazzi, Fiorella Piemonte, Salvatore Rossi, Maria Grazia Pomponi, Tommaso Nicoletti, Sara Petrillo, Alessia Perna, Anna Modoni
Publikováno v:
neurogenetics. 21:279-287
Friedreich’s ataxia (FRDA) is usually due to a homozygous GAA expansion in intron 1 of the frataxin (FXN) gene. Rarely, uncommon molecular rearrangements at the FXN locus can cause pitfalls in the molecular diagnosis of FRDA. Here we describe a fam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbd48ac417c48e2dca25d062d699c5a6
https://doi.org/10.1007/s10048-020-00620-7
https://doi.org/10.1007/s10048-020-00620-7
Autor:
Gabriella Silvestri, Guglielmo D'Amico, Alessia Perna, Salvatore Rossi, Edoardo Abed, Maria Laura Ester Bianchi
Publikováno v:
Neuromuscular Disorders. 30:144-150
The purpose of the study is to evaluate retinal involvement in a cohort of patients affected by Myotonic Dystrophy type 1 (DM1). Both eyes of 30 patients and one eye of a 31st patient with genetically proven diagnosis of DM1 and both eyes of 20 healt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db790e6e0f86edf1fe01e3d86ee876b0
https://doi.org/10.1016/j.nmd.2019.11.012
https://doi.org/10.1016/j.nmd.2019.11.012
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
