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

द्वारा Vitale, Valerio, Caranci, Ferdinando, Pisciotta, Chiara, Manganelli, Fiore, Briganti, Francesco, Santoro, Lucio, Brunetti, Arturo
में प्रकाशित Quant Imaging Med Surg (2016)

Small nerve fiber involvement in CMT1A

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

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

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

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

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

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E

द्वारा 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.
में प्रकाशित Neurology (2015)

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

द्वारा 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
प्रकाशित 2010

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

द्वारा 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
में प्रकाशित J Peripher Nerv Syst (2020)

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

द्वारा 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
में प्रकाशित Ann Clin Transl Neurol (2021)

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

द्वारा 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.
में प्रकाशित Neuromuscul Disord (2015)

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

द्वारा 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
में प्रकाशित Neurology (2017)

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

द्वारा 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.
में प्रकाशित Neurology (2017)

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

द्वारा 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
में प्रकाशित Cells (2020)

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

द्वारा 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
में प्रकाशित Neurology (2020)

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

द्वारा 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
में प्रकाशित Brain (2021)

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

द्वारा 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.
में प्रकाशित Neurology (2020)

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

द्वारा 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
में प्रकाशित Ann Neurol (2019)