Aberrant Splicing in GJB1 and the Relevance of 5′ UTR in CMTX1 Pathogenesis

由 Boso, Federica, Taioli, Federica, Cabrini, Ilaria, Cavallaro, Tiziana, Fabrizi, Gian Maria
發表在 Brain Sci (2020)

Isolated leptomeningeal angiomatosis in the sixth decade of life, an adulthood variant of Sturge Weber Syndrome (Type III): role of advanced Magnetic Resonance Imaging and Digital...

由 Muralidharan, Vetrivel, Failla, Gaetano, Travali, Mario, Cavallaro, Tiziana Liliana, Politi, Marco Angelo
發表在 BMC Neurol (2020)

Pharmacological treatment for familial amyloid neuropathy

由 Magrinelli, Francesca, Fabrizi, Gian Maria, Santoro, Lucio, Manganelli, Fiore, Cavallaro, Tiziana, Zanette, Giampietro, Tamburin, Stefano
發表在 Cochrane Database Syst Rev (2016)

Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I

由 Boso, Federica, Armirotti, Andrea, Taioli, Federica, Ferrarini, Moreno, Nobbio, Lucilla, Cavallaro, Tiziana, Fabrizi, Gian Maria
發表在 Neurol Genet (2019)

Pharmacological treatment for familial amyloid polyneuropathy

由 Magrinelli, Francesca, Fabrizi, Gian Maria, Santoro, Lucio, Manganelli, Fiore, Zanette, Giampietro, Cavallaro, Tiziana, Tamburin, Stefano
發表在 Cochrane Database Syst Rev (2020)

Mechanisms of Nerve Damage in Neuropathies Associated with Hematological Diseases: Lesson from Nerve Biopsies

由 Briani, Chiara, Ferrari, Sergio, Campagnolo, Marta, Tagliapietra, Matteo, Castellani, Francesca, Salvalaggio, Alessandro, Mariotto, Sara, Visentin, Andrea, Cavallaro, Tiziana
發表在 Brain Sci (2021)

Charcot-Marie-Tooth disease: New insights from skin biopsy

由 Manganelli, Fiore, Nolano, Maria, Pisciotta, Chiara, Provitera, Vincenzo, Fabrizi, Gian M., Cavallaro, Tiziana, Stancanelli, Annamaria, Caporaso, Giuseppe, Shy, Michael E., Santoro, Lucio
發表在 Neurology (2015)

Increased Expression of the Normal Cellular Isoform of Prion Protein in Inclusion‐Body Myositis, Inflammatory Myopathies and Denervation Atrophy

由 Zanusso, Gianluigi, Vattemi, Gaetano, Ferrari, Sergio, Tabaton, Massimo, Pecini, Elisa, Cavallaro, Tiziana, Tomelleri, Giuliano, Filosto, Massimiliano, Tonin, Paola, Nardelli, Ettore, Rizzuto, Nicola, Monaco, Salvatore
發表在 Brain Pathol (2006)

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

由 Pareyson, Davide, Reilly, Mary M, Schenone, Angelo, Fabrizi, Gian Maria, Cavallaro, Tiziana, Santoro, Lucio, Vita, Giuseppe, Quattrone, Aldo, Padua, Luca, Gemignani, Franco, Visioli, Francesco, Laurà, Matilde, Radice, Davide, Calabrese, Daniela, Hughes, Richard AC, Solari, Alessandra
出版 2011

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

由 Saveri, Paola, De Luca, Maria, Nisi, Veronica, Pisciotta, Chiara, Romano, Roberta, Piscosquito, Giuseppe, Reilly, Mary M., Polke, James M., Cavallaro, Tiziana, Fabrizi, Gian Maria, Fossa, Paola, Cichero, Elena, Lombardi, Raffaella, Lauria, Giuseppe, Magri, Stefania, Taroni, Franco, Pareyson, Davide, Bucci, Cecilia
發表在 Cells (2020)

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

由 Luigetti, Marco, Romozzi, Marina, Bisogni, Giulia, Cardellini, Davide, Cavallaro, Tiziana, Di Paolantonio, Andrea, Fabrizi, Gian Maria, Fenu, Silvia, Gentile, Luca, Grandis, Marina, Marucci, Gianluca, Massucco, Sara, Mazzeo, Anna, Pareyson, Davide, Romano, Angela, Russo, Massimo, Schenone, Angelo, Tagliapietra, Matteo, Tozza, Stefano, Vita, Giuseppe, Sabatelli, Mario
發表在 Brain Sci (2020)

Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers

由 Salvalaggio, Alessandro, Coraci, Daniele, Cacciavillani, Mario, Obici, Laura, Mazzeo, Anna, Luigetti, Marco, Pastorelli, Francesca, Grandis, Marina, Cavallaro, Tiziana, Bisogni, Giulia, Lozza, Alessandro, Gemelli, Chiara, Gentile, Luca, Ermani, Mario, Fabrizi, Gian Maria, Plasmati, Rosaria, Campagnolo, Marta, Castellani, Francesca, Gasparotti, Roberto, Martinoli, Carlo, Padua, Luca, Briani, Chiara
發表在 J Neurol (2020)

Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry

由 Pisciotta, Chiara, Calabrese, Daniela, Santoro, Lucio, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Gentile, Luca, Russo, Massimo, Mazzeo, Anna, Trapasso, Maria Claudia, Parazzini, Fabio, Vita, Giuseppe, Pareyson, Davide
發表在 Neurology (2020)

Alpha-synuclein seeds in olfactory mucosa and cerebrospinal fluid of patients with dementia with Lewy bodies

由 Perra, Daniela, Bongianni, Matilde, Novi, Giovanni, Janes, Francesco, Bessi, Valentina, Capaldi, Stefano, Sacchetto, Luca, Tagliapietra, Matteo, Schenone, Guido, Morbelli, Silvia, Fiorini, Michele, Cattaruzza, Tatiana, Mazzon, Giulia, Orrù, Christina D, Catalan, Mauro, Polverino, Paola, Bernardini, Andrea, Pellitteri, Gaia, Valente, Mariarosa, Bertolotti, Claudio, Nacmias, Benedetta, Maggiore, Giandomenico, Cavallaro, Tiziana, Manganotti, Paolo, Gigli, Gianluigi, Monaco, Salvatore, Nobili, Flavio, Zanusso, Gianluigi
發表在 Brain Commun (2021)