Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Rosaria Plasmati"'
Autor:
Gioele Fabbri, Matteo Serenelli, Marco Manfrini, Veria Vacchiano, Rosaria Plasmati, Fabrizio Salvi, Alessandra Ferlini, Claudio Rapezzi, Francesca Pastorelli
Publikováno v:
Amyloid. 28:173-181
Ile68Leu transthyretin-related amyloidosis (ATTR) is known as a mainly or exclusively cardiogenic variant. We hypothesized that an accurate specialized neurological evaluation could reveal a consistent frequency of mixed phenotypes.Forty-six consecut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fcaf6bff711596e167247f8c4a0bdb7
https://doi.org/10.1080/13506129.2021.1917357
https://doi.org/10.1080/13506129.2021.1917357
Autor:
Chiara Briani, Luca Gentile, Giulia Bisogni, Alessandro Salvalaggio, Luca Padua, Anna Mazzeo, Francesca Pastorelli, Mario Cacciavillani, Marta Campagnolo, Alessandro Lozza, Roberto Gasparotti, Rosaria Plasmati, Marina Grandis, Chiara Gemelli, Carlo Martinoli, Daniele Coraci, Tiziana Cavallaro, Laura Obici, M Luigetti, Gian Maria Fabrizi, Francesca Castellani, Mario Ermani
Publikováno v:
Journal of Neurology
Background Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dba6c260cc6eeb6786f33dcac2170fe9
https://doi.org/10.1007/s00415-020-10127-8
https://doi.org/10.1007/s00415-020-10127-8
Autor:
Francesca Castellani, Carlo Martinoli, Fabrizio Salvi, Chiara Briani, Laura Obici, Marta Campagnolo, Luca Gentile, Luca Padua, Alessandro Salvalaggio, Gian Maria Fabrizi, Roberto Gasparotti, Rosaria Plasmati, Marina Grandis, Mario Ermani, Tiziana Cavallaro, Federica De Napoli, Alessandro Lozza, Chiara Gemelli, Giulia Bisogni, Mario Cacciavillani, Grazia Devigili, Davide Pareyson, Massimo Russo, Silvia Fenu, Daniele Coraci, Claudio Rapezzi, Anna Mazzeo, Marco Luigetti, Francesca Pastorelli
Axonal polyneuropathy is the main feature of hereditary transthyretin amyloidosis (ATTRv). Nerve morphological abnormalities have been reported, but longitudinal changes have never been assessed. We performed a prospective widespread nerve ultrasound
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d030446d4e6a36a727a0d4f9ea73393
http://hdl.handle.net/11567/1089362
http://hdl.handle.net/11567/1089362
Autor:
Francesca Pastorelli, Fabrizio Salvi, Rosaria Plasmati, Lisa Argnani, Pier Luigi Zinzani, Enrico Derenzini, Alessandro Broccoli, Stefano Pileri, Beatrice Casadei, Cinzia Pellegrini
Publikováno v:
Leukemia & Lymphoma. 54:2318-2321
no abstract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0736ba0f9778086669eee7d4a0cc9b5d
https://doi.org/10.3109/10428194.2013.773997
https://doi.org/10.3109/10428194.2013.773997
Autor:
Rosaria Plasmati, Ilaria Bartolomei, Giovanna Cenacchi, Annalisa Pession, Luca Morandi, Fabrizio Salvi, Dario de Biase, Michela Visani
Publikováno v:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. 12(5)
Mutations in the superoxide dismutase-1 (SOD1) gene occur in some forms of familial amyotrophic lateral sclerosis (ALS). To date about 150 mutations are known to involve this gene. Here we describe a novel missense mutation in exon 5 of the SOD1 gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b427154b9ccb3e46a9abc872ef0aaf86
https://pubmed.ncbi.nlm.nih.gov/22632445
https://pubmed.ncbi.nlm.nih.gov/22632445
Autor:
Claudio Rapezzi, Daniela Dall'Osso, Illaria Bartolomei, Francesca Pastorelli, Fabrizio Salvi, Rosaria Plasmati
Publikováno v:
Amyloid. 19:58-60
131 HA-TTR patients from a single referral centre presented at onset five major clinical syndromes: (1) the typical "Portuguese variant" axonal polyneuropathy with dissociated (syringomyelic like) sensory loss and autonomic dysfunction; (2) bilateral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::412e39570f39ecb3ec306be752bacfd7
https://doi.org/10.3109/13506129.2012.682187
https://doi.org/10.3109/13506129.2012.682187
Autor:
C. Morelli, Claudio Rapezzi, Fabrizio Salvi, Andrea Bianchi, Mario Mascalchi, Rosaria Plasmati, Francesca Pastorelli
Publikováno v:
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association. 24(6)
Unexplained focal neurologic episodes (FNEs) can occur in patients with transthyretin-related familial amyloidotic polyneuropathy (TTR-FAP) after orthotopic liver transplantation (OLT). A patient with Val30Met FAP underwent OLT at age 34 years. Twelv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4362be5df4f2d665e7d285592dc4cde3
https://pubmed.ncbi.nlm.nih.gov/25802113
https://pubmed.ncbi.nlm.nih.gov/25802113
Autor:
Elena Pasini, Maurizio Viri, Rosa Guerrero-López, Marina Casazza, Silvana Franceschetti, Edoardo Ferlazzo, Antonio Gambardella, Patrizia Riguzzi, Rosaria Plasmati, Umberto Aguglia, Angelo Labate, Roberto Michelucci, Julie Turnbull, Lilia Volpi, Sara Gasparini, Flavio Villani, Elena Gennaro, Laura Canafoglia, José M. Serratosa, Berge A. Minassian, Federico Zara
Publikováno v:
Epilepsia. 55(12)
We report clinical, neurophysiologic, and genetic features of an Italian series of patients with Lafora disease (LD) to identify distinguishing features of those with a slowly progressive course. Twenty-three patients with LD (17 female; 6 male) were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b4214d2ea9a2b4fe8dc52bad31d46c1
https://pubmed.ncbi.nlm.nih.gov/25270369
https://pubmed.ncbi.nlm.nih.gov/25270369
Autor:
F. Valzania, Maria Cristina Bianchi, Carlo Alberto Tassinari, Mario Mascalchi, Rosaria Plasmati, Carlo Tessa, Michela Tosetti, Fabrizio Salvi, Carlo Bartolozzi, Marina Frontali
Publikováno v:
Annals of Neurology. 43:244-252
Linkage and DNA analysis, magnetic resonance (MR) imaging, and single-voxel proton MR spectroscopy were obtained in 10 members of an Italian kindred with spinocerebellar ataxia type 1 (SCA1). The size of the basis pontis, cerebellar hemispheres, midd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca5a7ad8460c6f155dc218d82280ab95
https://doi.org/10.1002/ana.410430215
https://doi.org/10.1002/ana.410430215
Autor:
Roberto Volpe, Rosaria Plasmati, Fabrizio Salvi, R. Mencucci, Alessandra Ferlini, P. Gobbi, Roberto Michelucci, G. Salvi, M. Santangelo, A. Forabosco, Carlo Alberto Tassinari
Publikováno v:
Scopus-Elsevier
Two unrelated Italian families affected by hereditary amyloidosis are described. Molecular genetic characterization demonstrated different mutations of the transthyretin gene. In all patients belonging to the TTR Ala 49 family the vitreous body, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b63fca6fd72b3324616ace47decb7377
https://doi.org/10.3109/13816819309087617
https://doi.org/10.3109/13816819309087617