Hirayama’s disease: an Italian single center experience and review of the literature

par Vitale, Valerio, Caranci, Ferdinando, Pisciotta, Chiara, Manganelli, Fiore, Briganti, Francesco, Santoro, Lucio, Brunetti, Arturo
Publié dans Quant Imaging Med Surg (2016)

Small nerve fiber involvement in CMT1A

par Nolano, Maria, Manganelli, Fiore, Provitera, Vincenzo, Pisciotta, Chiara, Stancanelli, Annamaria, Caporaso, Giuseppe, Iodice, Rosa, Shy, Michael E., Santoro, Lucio
Publié dans Neurology (2015)

Functional involvement of central cholinergic circuits and visual hallucinations in Parkinson's disease

par Manganelli, Fiore, Vitale, Carmine, Santangelo, Gabriella, Pisciotta, Chiara, Iodice, Rosa, Cozzolino, Autilia, Dubbioso, Raffaele, Picillo, Marina, Barone, Paolo, Santoro, Lucio
Publié 2009

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

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

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E

par Pisciotta, Chiara, Bai, Yunhong, Brennan, Kathryn M., Wu, Xingyao, Grider, Tiffany, Feely, Shawna, Wang, Suola, Moore, Steven, Siskind, Carly, Gonzalez, Michael, Zuchner, Stephan, Shy, Michael E.
Publié dans Neurology (2015)

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

par Santoro, Lucio, Breedveld, Guido J., Manganelli, Fiore, Iodice, Rosa, Pisciotta, Chiara, Nolano, Maria, Punzo, Francesca, Quarantelli, Mario, Pappatà, Sabina, Di Fonzo, Alessio, Oostra, Ben A., Bonifati, Vincenzo
Publié 2010

Validation of the Italian version of the Charcot-Marie-Tooth Health Index (CMT-HI)

par Pisciotta, Chiara, Ciafaloni, Emma, Zuccarino, Riccardo, Calabrese, Daniela, Saveri, Paola, Fenu, Silvia, Tramacere, Irene, Genovese, Filippo, Dilek, Nuran, Johnson, Nicholas E., Heatwole, Chad, Herrmann, David N., Pareyson, Davide
Publié dans J Peripher Nerv Syst (2020)

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

par 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
Publié dans Ann Clin Transl Neurol (2021)

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease

par Brennan, Kathryn M., Bai, Yunhong, Pisciotta, Chiara, Wang, Suola, Feely, Shawna M.E., Hoegger, Mark, Gutmann, Laurie, Moore, Steven A., Gonzalez, Michael, Sherman, Diane L., Brophy, Peter J., Züchner, Stephan, Shy, Michael E.
Publié dans Neuromuscul Disord (2015)

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

par Manganelli, Fiore, Parisi, Silvia, Nolano, Maria, Tao, Feifei, Paladino, Simona, Pisciotta, Chiara, Tozza, Stefano, Nesti, Claudia, Rebelo, Adriana P., Provitera, Vincenzo, Santorelli, Filippo M., Shy, Michael E., Russo, Tommaso, Zuchner, Stephan, Santoro, Lucio
Publié dans Neurology (2017)

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

par Panosyan, Francis B., Laura, Matilde, Rossor, Alexander M., Pisciotta, Chiara, Piscosquito, Giuseppe, Burns, Joshua, Li, Jun, Yum, Sabrina W., Lewis, Richard A., Day, John, Horvath, Rita, Herrmann, David N., Shy, Michael E., Pareyson, Davide, Reilly, Mary M., Scherer, Steven S.
Publié dans Neurology (2017)

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

par 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
Publié dans Cells (2020)

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

par 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
Publié dans Neurology (2020)

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

par Pipis, Menelaos, Feely, Shawna M E, Polke, James M, Skorupinska, Mariola, Perez, Laura, Shy, Rosemary R, Laura, Matilde, Morrow, Jasper M, Moroni, Isabella, Pisciotta, Chiara, Taroni, Franco, Vujovic, Dragan, Lloyd, Thomas E, Acsadi, Gyula, Yum, Sabrina W, Lewis, Richard A, Finkel, Richard S, Herrmann, David N, Day, John W, Li, Jun, Saporta, Mario, Sadjadi, Reza, Walk, David, Burns, Joshua, Muntoni, Francesco, Ramchandren, Sindhu, Horvath, Rita, Johnson, Nicholas E, Züchner, Stephan, Pareyson, Davide, Scherer, Steven S, Rossor, Alexander M, Shy, Michael E, Reilly, Mary M
Publié dans Brain (2021)

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

par Fridman, Vera, Sillau, Stefan, Acsadi, Gyula, Bacon, Chelsea, Dooley, Kimberly, Burns, Joshua, Day, John, Feely, Shawna, Finkel, Richard S., Grider, Tiffany, Gutmann, Laurie, Herrmann, David N., Kirk, Callyn A., Knause, Sarrah A., Laurá, Matilde, Lewis, Richard A., Li, Jun, Lloyd, Thomas E., Moroni, Isabella, Muntoni, Francesco, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Giuseppe, Ramchandren, Sindhu, Saporta, Mario, Sadjadi, Reza, Shy, Rosemary R., Siskind, Carly E., Sumner, Charlotte J., Walk, David, Wilcox, Janel, Yum, Sabrina W., Züchner, Stephan, Scherer, Steven S., Pareyson, Davide, Reilly, Mary M., Shy, Michael E.
Publié dans Neurology (2020)

A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs)

par Pareyson, Davide, Stojkovic, Tanya, Reilly, Mary M., Leonard-Louis, Sarah, Laurà, Matilde, Blake, Julian, Parman, Yesim, Battaloglu, Esra, Tazir, Meriem, Bellatache, Mounia, Bonello-Palot, Nathalie, Lévy, Nicolas, Sacconi, Sabrina, Guimarães-Costa, Raquel, Attarian, Sharham, Latour, Philippe, Solé, Guilhem, Megarbane, André, Horvath, Rita, Ricci, Giulia, Choi, Byung-Ok, Schenone, Angelo, Gemelli, Chiara, Geroldi, Alessandro, Sabatelli, Mario, Luigetti, Marco, Santoro, Lucio, Manganelli, Fiore, Quattrone, Aldo, Valentino, Paola, Murakami, Tatsufumi, Scherer, Steven S., Dankwa, Lois, Shy, Michael E., Bacon, Chelsea J, Herrmann, David N., Zambon, Alberto, Tramacere, Irene, Pisciotta, Chiara, Magri, Stefania, Previtali, Stefano C., Bolino, Alessandra
Publié dans Ann Neurol (2019)