Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives

por Pisciotta, Chiara, Saveri, Paola, Pareyson, Davide
Publicado 2021

Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study

por Ferrarin, Maurizio, Lencioni, Tiziana, Rabuffetti, Marco, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide
Publicado 2013

Hereditary transthyretin amyloidosis overview

por Manganelli, Fiore, Fabrizi, Gian Maria, Luigetti, Marco, Mandich, Paola, Mazzeo, Anna, Pareyson, Davide
Publicado 2020

Monitoring safety and effectiveness of Tafamidis in transthyretin amyloidosis in Italy: a 3-year longitudinal multicenter study in a non-endemic area

por Cortese, Andrea, Vita, Giuseppe, Obici, Laura, Sabatelli, Marco, Fabrizi, Gian Maria, Schenone, Angelo, Merlini, Giampaolo, Pareyson, Davide
Publicado 2015

Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7(K126R) Mutation

por Romano, Roberta, Del Fiore, Victoria Stefania, Saveri, Paola, Palamà, Ilaria Elena, Pisciotta, Chiara, Pareyson, Davide, Bucci, Cecilia, Guerra, Flora
Publicado 2022

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

por Ambrosini, Anna, Calabrese, Daniela, Avato, Francesco Maria, Catania, Felice, Cavaletti, Guido, Pera, Maria Carmela, Toscano, Antonio, Vita, Giuseppe, Monaco, Lucia, Pareyson, Davide
Publicado 2018

The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot–Marie–Toot...

por Lencioni, Tiziana, Piscosquito, Giuseppe, Rabuffetti, Marco, Bovi, Gabriele, Calabrese, Daniela, Aiello, Alessia, Di Sipio, Enrica, Padua, Luca, Diverio, Manuela, Pareyson, Davide, Ferrarin, Maurizio
Publicado 2015

Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

por Cavestro, Chiara, Panteghini, Celeste, Reale, Chiara, Nasca, Alessia, Fenu, Silvia, Salsano, Ettore, Chiapparini, Luisa, Garavaglia, Barbara, Pareyson, Davide, Di Meo, Ivano, Tiranti, Valeria
Publicado 2021

The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)

por Blasi, Lorenzo, Sabbatini, Daniele, Fortuna, Andrea, Querin, Giorgia, Martinelli, Ilaria, Vianello, Sara, Bertolin, Cinzia, Pareyson, Davide, Pennuto, Maria, Pegoraro, Elena, Bello, Luca, Sorarù, Gianni
Publicado 2023

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

por Nanetti, Lorenzo, Cavalieri, Simona, Pensato, Viviana, Erbetta, Alessandra, Pareyson, Davide, Panzeri, Marta, Zorzi, Giovanna, Antozzi, Carlo, Moroni, Isabella, Gellera, Cinzia, Brusco, Alfredo, Mariotti, Caterina
Publicado 2013

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

por Salsano, Ettore, Tabano, Silvia, Sirchia, Silvia M, Colapietro, Patrizia, Castellotti, Barbara, Gellera, Cinzia, Rimoldi, Marco, Pensato, Viviana, Mariotti, Caterina, Pareyson, Davide, Miozzo, Monica, Uziel, Graziella
Publicado 2012

DNAJB2‐related Charcot‐Marie‐Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening

por Saveri, Paola, Magri, Stefania, Maderna, Emanuela, Balistreri, Francesca, Lombardi, Raffaella, Ciano, Claudia, Moda, Fabio, Garavaglia, Barbara, Reale, Chiara, Lauria Pinter, Giuseppe, Taroni, Franco, Pareyson, Davide, Pisciotta, Chiara
Publicado 2022

Validation of the Italian version of the pediatric CMT quality of life outcome measure

por Moroni, Isabella, Danti, Federica Rachele, Pareyson, Davide, Pagliano, Emanuela, Piscosquito, Giuseppe, Foscan, Maria, Marchi, Alessia, Ardissone, Anna, Genitrini, Silvia, Wu, Tong Tong, Shy, Michael E, Ramchandren, Sindhu
Publicado 2022

Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy

por Gasparotti, Roberto, Salvalaggio, Alessandro, Corbo, Daniele, Agazzi, Giorgio, Cacciavillani, Mario, Lozza, Alessandro, Fenu, Silvia, De Vigili, Grazia, Tagliapietra, Matteo, Fabrizi, Gian Maria, Pareyson, Davide, Obici, Laura, Briani, Chiara
Publicado 2023

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A

por Eichinger, Katy, Sowden, Janet E., Burns, Joshua, McDermott, Michael P., Krischer, Jeffrey, Thornton, John, Pareyson, Davide, Scherer, Steven S., Shy, Michael E., Reilly, Mary M., Herrmann, David N.
Publicado 2022

Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

por Abati, Elena, Magri, Stefania, Meneri, Megi, Manenti, Giulia, Velardo, Daniele, Balistreri, Francesca, Pisciotta, Chiara, Saveri, Paola, Bresolin, Nereo, Comi, Giacomo Pietro, Ronchi, Dario, Pareyson, Davide, Taroni, Franco, Corti, Stefania
Publicado 2021

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

por Tomaselli, Pedro J., Rossor, Alexander M., Horga, Alejandro, Jaunmuktane, Zane, Carr, Aisling, Saveri, Paola, Piscosquito, Giuseppe, Pareyson, Davide, Laura, Matilde, Blake, Julian C., Poh, Roy, Polke, James, Houlden, Henry, Reilly, Mary M.
Publicado 2017

Transcriptional role of androgen receptor in the expression of long non-coding RNA Sox2OT in neurogenesis

por Tosetti, Valentina, Sassone, Jenny, Ferri, Anna L. M., Taiana, Michela, Bedini, Gloria, Nava, Sara, Brenna, Greta, Di Resta, Chiara, Pareyson, Davide, Di Giulio, Anna Maria, Carelli, Stephana, Parati, Eugenio A., Gorio, Alfredo
Publicado 2017

An autoinflammatory neurological disease due to interleukin 6 hypersecretion

por Salsano, Ettore, Rizzo, Ambra, Bedini, Gloria, Bernard, Loris, Dall’Olio, Valentina, Volorio, Sara, Lazzaroni, Monica, Ceccherini, Isabella, Lazarevic, Dejan, Cittaro, Davide, Stupka, Elia, Paterra, Rosina, Farina, Laura, Savoiardo, Mario, Pareyson, Davide, Sciacca, Francesca L
Publicado 2013

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

por 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
Publicado 2011