Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Grandis, Marina"'
Autor:
Magliano, Lorenza, Obici, Laura, Sforzini, Claudia, Mazzeo, Anna, Russo, Massimo, Cappelli, Francesco, Fenu, Silvia, Luigetti, Marco, Tagliapietra, Matteo, Gemelli, Chiara, Leonardi, Luca, Tozza, Stefano, Pradotto, Luca Guglielmo, Citarelli, Giulia, Mauro, Alessandro, Manganelli, Fiore, Antonini, Giovanni, Grandis, Marina, Fabrizi, Gian Maria, Sabatelli, Mario, Pareyson, Davide, Perfetto, Federico, Merlini, Giampaolo, Vita, Giuseppe, Giulia, Bisogni, Daniela, Calabrese, Davide, Cardellini, Silvia, Casagrande, Tiziana, Cavallaro, Eleonora Di Buduo, Andrea Di Paolantonio, Gentile, Luca, Graceffa, Anita Maria Stella, Sara, Massucco, Alessandra, Milesi, Stefania, Morino, Roberta, Mussinelli, Paola, Saveri, Daniele, Severi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient’s functional a
Autor:
Emilia Bellone, Paola Mandich, Stefano Facchini, Giuseppe Cosentino, Anna Pichiecchio, Chiara Briani, Stefano Tozza, Enrico Marchioni, Lucio Santoro, Francesca Magrinelli, Stephanie Efthymiou, Aisling Carr, Marios Hadjivassiliou, Enrico Alfonsi, Chiara Gemelli, Natalia Dominik, Henry Houlden, Matilde Laura, Silvia Colnaghi, Enza Maria Valente, Mary M. Reilly, Alexander M. Rossor, Simone Gana, Pietro Businaro, Cristina Tassorelli, Adolfo M. Bronstein, Elisa Vegezzi, Marina Grandis, Diego Kaski, Elena Pegoraro, Nicholas J. Beauchamp, Riccardo Currò, Alessandro Salvalaggio, Francesca Castellani, Angelo Schenone, Hadi Manji, Valentina Galassi Deforie, Ilaria Callegari, Michael P. Lunn, Andrea Cortese, Fiore Manganelli
Publikováno v:
Brain
After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy of
Autor:
Veria Vacchiano, Luca Bello, Renato Mantegazza, Eustachio D'Errico, Tiziana Mongini, Riccardo Zanin, Gabriele Siciliano, Francesca Trojsi, Elena Saccani, Federica Cerri, Marina Grandis, Michela Coccia, Stefano C. Previtali, Alessandra Govoni, Massimiliano Filosto, L. Passamano, Giovanni Pavesi, Luisa Politano, Mauro Silvestrini, Claudia Caponnetto, Silvia Bonanno, Virginia Bozzoni, Manfredi Ferraro, Elena Pegoraro, Raffaella Tanel, Lorenzo Verriello, Angelo Schenone, Sara Bortolani, Lorenzo Maggi, Angela Berardinelli, Giacomo P. Comi, Megi Meneri, Rocco Liguori, Gianni Sorarù, G. Marrosu, Mara Turri, Luca Caumo, Irene Tramacere, Rachele Piras, Giulia Ricci, Isabella Laura Simone
ObjectiveTo retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA).MethodsInclusion criteria were: (1) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusiner
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cc5d0f4b6b2f1450a182783ba26056e
http://hdl.handle.net/11379/533433
http://hdl.handle.net/11379/533433
Autor:
Alessandro Malandrini, Maria Teresa Dotti, Enrico Bertini, Marina Mora, Gabriele Siciliano, Denise Cassandrini, Marina Grandis, Adele D'Amico, Eugenio Mercuri, Lorenzo Peverelli, Maria Antonietta Maioli, Giacomo P. Comi, Lucia Ruggiero, Sara Lenzi, Maurizio Moggio, Fabiana Fattori, Marika Pane, Michele Sacchini, Lorenzo Maggi, Angela Berardinelli, Carmelo Rodolico, Giulia Ricci, Antonio Toscano, Alessandro Simonati, Marco Savarese, Rosanna Trovato, Vincenzo Nigro, Francesca Magri, Chiara Fiorillo, Elena Pegoraro, Paola Tonin, Anna Rubegni, Filippo M. Santorelli, Claudio Bruno, Luciano Merlini, Maria Alice Donati, Guja Astrea, Elena Maria Pennisi, Francesco Mari, Lucia Morandi, Lucio Santoro, Olimpia Musumeci, Carlo Minetti, Jacopo Baldacci, Roberto Massa
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-16 (2017)
Italian Journal of Pediatrics
Italian Journal of Pediatrics
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the
Autor:
Emilia Bellone, Stefano Tozza, Sabrina Fabbri, Chiara Gemelli, Lucia Trevisan, Fabio Gotta, Paola Origone, Marina Grandis, Lucio Santoro, Fiore Manganelli, Alessandro Geroldi, Merit Lamp, Paola Mandich, Rossella Gulli, Angelo Schenone
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-3 (2018)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur from the second to over sixth decade of life with a length-dependent axonal neuropathy with
Autor:
Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I., Picillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A., Santorelli, F. M., Italian CMD Network, Berardinelli, A., Comi, G., Donati, M. A., Dotti, M., Grandis, M., Magri, F., Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Merlini, L., Moggio, M., Morandi, L. O., Musumeci, O., Pane, M., Pini, A., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Siciliano, G., Simonati, A., Tonin, P., Toscano, A.
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Background Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan