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DNAJB2‐related Charcot‐Marie‐Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening
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
Published in European journal of neurology (01.07.2022)
Published in European journal of neurology (01.07.2022)
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Journal Article
Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study
Fridman, Vera, Sillau, Stefan, Bockhorst, Jacob, Smith, Kaitlin, Moroni, Isabella, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Guiseppe, Laurá, Matilde, Muntoni, Francesco, Bacon, Chelsea, Feely, Shawna, Grider, Tiffany, Gutmann, Laurie, Shy, Rosemary, Wilcox, Janel, Herrmann, David N., Li, Jun, Ramchandren, Sindhu, Sumner, Charlotte J., Lloyd, Thomas E., Day, John, Siskind, Carly E., Yum, Sabrina W., Sadjadi, Reza, Finkel, Richard S., Scherer, Steven S., Pareyson, Davide, Reilly, Mary M., Shy, Michael E.
Published in Annals of neurology (01.03.2023)
Published in Annals of neurology (01.03.2023)
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Journal Article
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A
Attarian, Shahram, Young, Peter, Brannagan, Thomas H., Adams, David, Van Damme, Philip, Thomas, Florian P., Casanovas, Carlos, Kafaie, Jafar, Tard, Céline, Walter, Maggie C., Péréon, Yann, Walk, David, Stino, Amro, de Visser, Marianne, Verhamme, Camiel, Amato, Anthony, Carter, Gregory, Magy, Laurent, Statland, Jeffrey M., Felice, Kevin
Published in Orphanet journal of rare diseases (16.10.2021)
Published in Orphanet journal of rare diseases (16.10.2021)
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Journal Article
Evaluation of the Metabolomics Profile in Charcot–Marie–Tooth (CMT) Patients: Novel Potential Biomarkers
Murgia, Federica, Cadeddu, Martina, Frau, Jessica, Coghe, Giancarlo, Lorena, Lorefice, Vannelli, Alessandro, Murru, Maria Rita, Spada, Martina, Noto, Antonio, Atzori, Luigi, Cocco, Eleonora
Published in Metabolites (01.08.2025)
Published in Metabolites (01.08.2025)
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Journal Article
A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)
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
Published in Annals of neurology (01.07.2019)
Published in Annals of neurology (01.07.2019)
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Journal Article
Auditory function in children with Charcot-Marie-Tooth disease
Rance, G., Ryan, M. M., Bayliss, K., Gill, K., O'Sullivan, C., Whitechurch, M.
Published in Brain (London, England : 1878) (01.05.2012)
Published in Brain (London, England : 1878) (01.05.2012)
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Journal Article
Expression of Mfn2, the charcot-marie-tooth neuropathy type 2A gene, in human skeletal muscle : Effects of type 2 diabetes, obesity, weight loss, and the regulatory role of tumor necrosis factor α and interleukin-6
BACH, Daniel, NAON, Deborah, MANCO, Melania, CALVANI, Menotti, CASTAGNETO, Marco, PALACIN, Manuel, MINGRONE, Geltrude, ZIERATH, Juleen R, VIDAL, Hubert, ZORZANO, Antonio, PICH, Sara, SORIANO, Francesc X, VEGA, Nathalie, RIEUSSET, Jennifer, LAVILLE, Martine, GUILLET, Christelle, BOIRIE, Yves, WAUBERG-HENRIKSSON, Harriet
Published in Diabetes (New York, N.Y.) (01.09.2005)
Published in Diabetes (New York, N.Y.) (01.09.2005)
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Journal Article
Microstructural Integrity of Peripheral Nerves in Charcot–Marie–Tooth Disease: An MRI Evaluation Study
Cheah, Peng Loon, Krisnan, Thiagu, Wong, Jeannie Hsiu Ding, Rozalli, Faizatul Izza, Fadzli, Farhana, Rahmat, Kartini, Shahrizaila, Nortina, Tan, Li Kuo, Nawawi, Ouzreiah, Ramli, Norlisah
Published in Journal of magnetic resonance imaging (01.02.2021)
Published in Journal of magnetic resonance imaging (01.02.2021)
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Journal Article
The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25
Leal, Alejandro, Bogantes-Ledezma, Sixto, Ekici, Arif B., Uebe, Steffen, Thiel, Christian T., Sticht, Heinrich, Berghoff, Martin, Berghoff, Corinna, Morera, Bernal, Meisterernst, Michael, Reis, André
Published in Neurogenetics (01.12.2018)
Published in Neurogenetics (01.12.2018)
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Journal Article
Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease
Bertini, Alessandro, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Tagliapietra, Matteo, Grandis, Marina, Previtali, Stefano Carlo, Falzone, Yuri Matteo, Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Tramacere, Irene, Cavalca, Eleonora, Saveri, Paola, Quattrone, Andrea, Valentino, Paola, Tozza, Stefano, Gentile, Luca, Russo, Massimo, Mazzeo, Anna, Vita, Giuseppe, Prada, Valeria, Zuccarino, Riccardo, Ferraro, Francesco, Pisciotta, Chiara, Pareyson, Davide, Schirinzi, Giulia, Montesano, Maria, Nuzzo, Sara, Oggiano, Francesca, Calabrese, Daniela, Gemelli, Chiara, Scarlato, Marina, Spina, Emanuele, Longo, Maria, Occhipinti, Giuseppe, Iabichella, Giacomo, Barone, Stefania
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2024)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2024)
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Journal Article
Pharmacological Doses of Thiamine Benefit Patients with the Charcot–Marie–Tooth Neuropathy by Changing Thiamine Diphosphate Levels and Affecting Regulation of Thiamine-Dependent Enzymes
Artiukhov, Artem V., Solovjeva, Olga N., Balashova, Natalia V., Sidorova, Olga P., Graf, Anastasia V., Bunik, Victoria I.
Published in Biochemistry (Moscow) (01.07.2024)
Published in Biochemistry (Moscow) (01.07.2024)
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Journal Article
Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease
Pla-Martín, David, Calpena, Eduardo, Lupo, Vincenzo, Márquez, Celedonio, Rivas, Eloy, Sivera, Rafael, Sevilla, Teresa, Palau, Francesc, Espinós, Carmen
Published in Human molecular genetics (01.01.2015)
Published in Human molecular genetics (01.01.2015)
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Journal Article
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients
Tavakoli, Mitra, Marshall, Andy, Banka, Siddharth, Petropoulos, Ioannis N., Fadavi, Hassan, Kingston, Helen, Malik, Rayaz A.
Published in Muscle & nerve (01.11.2012)
Published in Muscle & nerve (01.11.2012)
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Journal Article
Quantitative assessment of sciatic nerve changes in Charcot–Marie–Tooth type 1A patients using magnetic resonance neurography
Fortanier, E., Ogier, A. C., Delmont, E., Lefebvre, M.‐N., Viout, P., Guye, M., Bendahan, D., Attarian, S.
Published in European journal of neurology (01.08.2020)
Published in European journal of neurology (01.08.2020)
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Journal Article
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry
Bellofatto, Marta, Bertini, Alessandro, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Calabrese, Daniela, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Gentile, Luca, Russo, Massimo, Mazzeo, Anna, Vita, Giuseppe, Piacentini, Sylvie, Pisciotta, Chiara, Pareyson, Davide
Published in Journal of neurology (01.01.2023)
Published in Journal of neurology (01.01.2023)
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Journal Article
Postural stabilization and balance assessment in Charcot–Marie–Tooth 1A subjects
Lencioni, T., Rabuffetti, M., Piscosquito, G., Pareyson, D., Aiello, A., Di Sipio, E., Padua, L., Stra, F., Ferrarin, M.
Published in Gait & posture (01.09.2014)
Published in Gait & posture (01.09.2014)
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Journal Article
Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot‐Marie‐Tooth disease 1A
Spiesshoefer, Jens, Henke, Carolin, Kabitz, Hans‐Joachim, Akova‐Oeztuerk, Esra, Draeger, Bianca, Herkenrath, Simon, Randerath, Winfried, Young, Peter, Brix, Tobias, Boentert, Matthias
Published in Journal of the peripheral nervous system (01.09.2019)
Published in Journal of the peripheral nervous system (01.09.2019)
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Journal Article
3D‐printed custom ankle braces for people with Charcot‐Marie‐Tooth disease: A pilot study
Philps, Adam, Frecklington, Mike, Stewart, Sarah
Published in Journal of foot and ankle research (01.12.2024)
Published in Journal of foot and ankle research (01.12.2024)
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Journal Article