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

Por Vitale, Valerio, Caranci, Ferdinando, Pisciotta, Chiara, Manganelli, Fiore, Briganti, Francesco, Santoro, Lucio, Brunetti, Arturo
Publicado no Quant Imaging Med Surg (2016)

Small nerve fiber involvement in CMT1A

Por Nolano, Maria, Manganelli, Fiore, Provitera, Vincenzo, Pisciotta, Chiara, Stancanelli, Annamaria, Caporaso, Giuseppe, Iodice, Rosa, Shy, Michael E., Santoro, Lucio
Publicado no Neurology (2015)

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

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

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

Por Manganelli, Fiore, Nolano, Maria, Pisciotta, Chiara, Provitera, Vincenzo, Fabrizi, Gian M., Cavallaro, Tiziana, Stancanelli, Annamaria, Caporaso, Giuseppe, Shy, Michael E., Santoro, Lucio
Publicado no Neurology (2015)

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E

Por 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.
Publicado no Neurology (2015)

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

Por 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
Publicado em 2010

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

Por 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
Publicado no J Peripher Nerv Syst (2020)

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

Por 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.
Publicado no Neuromuscul Disord (2015)

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

Por 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
Publicado no Neurology (2017)

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

Por 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.
Publicado no Neurology (2017)

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

Por 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
Publicado no Cells (2020)

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

Por 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
Publicado no Neurology (2020)

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

Por 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
Publicado no Brain (2021)

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

Por 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.
Publicado no Neurology (2020)

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

Por 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
Publicado no Ann Neurol (2019)