Charcot-marie-tooth disease subtypes and genetic testing strategies
Saporta, Anita S.D., Sottile, Stephanie L., Miller, Lindsey J., Feely, Shawna M.E., Siskind, Carly E., Shy, Michael E.
Published in Annals of neurology (01.01.2011)
Published in Annals of neurology (01.01.2011)
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High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial
Lewis, Richard A, McDermott, Michael P, Herrmann, David N, Hoke, Ahmet, Clawson, Lora L, Siskind, Carly, Feely, Shawna M E, Miller, Lindsey J, Barohn, Richard J, Smith, Patricia, Luebbe, Elizabeth, Wu, Xingyao, Shy, Michael E
Published in JAMA neurology (01.08.2013)
Published in JAMA neurology (01.08.2013)
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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Cortese, Andrea, Zhu, Yi, Rebelo, Adriana P., Negri, Sara, Courel, Steve, Abreu, Lisa, Bacon, Chelsea J., Bai, Yunhong, Bis-Brewer, Dana M., Bugiardini, Enrico, Buglo, Elena, Danzi, Matt C., Feely, Shawna M. E., Athanasiou-Fragkouli, Alkyoni, Haridy, Nourelhoda A., Isasi, Rosario, Khan, Alaa, Laurà, Matilde, Magri, Stefania, Pipis, Menelaos, Pisciotta, Chiara, Powell, Eric, Rossor, Alexander M., Saveri, Paola, Sowden, Janet E., Tozza, Stefano, Vandrovcova, Jana, Dallman, Julia, Grignani, Elena, Marchioni, Enrico, Scherer, Steven S., Tang, Beisha, Lin, Zhiqiang, Al-Ajmi, Abdullah, Schüle, Rebecca, Synofzik, Matthis, Maisonobe, Thierry, Stojkovic, Tanya, Auer-Grumbach, Michaela, Abdelhamed, Mohamed A., Hamed, Sherifa A., Zhang, Ruxu, Manganelli, Fiore, Santoro, Lucio, Taroni, Franco, Pareyson, Davide, Houlden, Henry, Herrmann, David N., Reilly, Mary M., Shy, Michael E., Zhai, R. Grace, Zuchner, Stephan
Published in Nature genetics (01.05.2020)
Published in Nature genetics (01.05.2020)
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Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy
Kennerson, Marina L., Nicholson, Garth A., Kaler, Stephen G., Kowalski, Bartosz, Mercer, Julian F.B., Tang, Jingrong, Llanos, Roxana M., Chu, Shannon, Takata, Reinaldo I., Speck-Martins, Carlos E., Baets, Jonathan, Almeida-Souza, Leonardo, Fischer, Dirk, Timmerman, Vincent, Taylor, Philip E., Scherer, Steven S., Ferguson, Toby A., Bird, Thomas D., De Jonghe, Peter, Feely, Shawna M.E., Shy, Michael E., Garbern, James Y.
Published in American journal of human genetics (12.03.2010)
Published in American journal of human genetics (12.03.2010)
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A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations
Meyer-Schuman, Rebecca, Marte, Sheila, Smith, Tyler J, Feely, Shawna M E, Kennerson, Marina, Nicholson, Garth, Shy, Mike E, Koutmou, Kristin S, Antonellis, Anthony
Published in Human molecular genetics (19.06.2023)
Published in Human molecular genetics (19.06.2023)
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MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A
Wang, Hongge, Davison, Matthew, Wang, Kathryn, Xia, Tai-He, Call, Katherine M, Luo, Jun, Wu, Xingyao, Zuccarino, Riccardo, Bacha, Alexa, Bai, Yunhong, Gutmann, Laurie, Feely, Shawna M E, Grider, Tiffany, Rossor, Alexander M, Reilly, Mary M, Shy, Michael E, Svaren, John
Published in Neurology (03.08.2021)
Published in Neurology (03.08.2021)
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Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
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
Published in Brain (London, England : 1878) (01.12.2020)
Published in Brain (London, England : 1878) (01.12.2020)
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Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
Rebelo, Adriana P, Tomaselli, Pedro J, Medina, Jessica, Wang, Ying, Dohrn, Maike F, Nyvltova, Eva, Danzi, Matt C, Garrett, Mark, Smith, Sean E, Pestronk, Alan, Li, Chengcheng, Ruiz, Ariel, Jacobs, Elizabeth, Feely, Shawna M E, França, Marcondes C, Gomes, Marcus V, Santos, Diogo F, Kumar, Surinder, Lombard, David B, Saporta, Mario, Hekimi, Siegfried, Barrientos, Antoni, Weihl, Conrad, Shy, Michael E, Marques, Wilson, Zuchner, Stephan
Published in Brain (London, England : 1878) (03.10.2023)
Published in Brain (London, England : 1878) (03.10.2023)
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A novel mutation in VCP causes Charcot―Marie―Tooth Type 2 disease
GONZALEZ, Michael A, FEELY, Shawna M, ZUCHNER, Stephan, SHY, Michael E, SPEZIANI, Fiorella, STRICKLAND, Alleene V, DANZI, Matt, BACON, Chelsea, YOUJIN LEE, CHOU, Tsui-Fen, BLANTON, Susan H, WEIHL, Conrad C
Published in Brain (London, England : 1878) (01.11.2014)
Published in Brain (London, England : 1878) (01.11.2014)
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Loss of function MPZ mutation causes milder CMT1B neuropathy
Howard, Paige, Feely, Shawna M. E., Grider, Tiffany, Bacha, Alexa, Scarlato, Marina, Fazio, Raffaella, Quattrini, Angelo, Shy, Michael E., Previtali, Stefano C.
Published in Journal of the peripheral nervous system (01.06.2021)
Published in Journal of the peripheral nervous system (01.06.2021)
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Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure
Ramchandren, Sindhu, Wu, Tong Tong, Finkel, Richard S., Siskind, Carly E., Feely, Shawna M. E., Burns, Joshua, Reilly, Mary M., Estilow, Timothy, Shy, Michael E.
Published in Annals of neurology (01.02.2021)
Published in Annals of neurology (01.02.2021)
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Validation of the parent‐proxy pediatric Charcot‐Marie‐Tooth disease quality of life outcome measure
Wu, Tong Tong, Finkel, Richard S., Siskind, Carly E., Feely, Shawna M.E., Burns, Joshua, Reilly, Mary M., Muntoni, Francesco, Estilow, Timothy, Shy, Michael E., Ramchandren, Sindhu
Published in Journal of the peripheral nervous system (01.06.2023)
Published in Journal of the peripheral nervous system (01.06.2023)
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Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A
Doherty, Carolynne M., Howard, Paige, O'Donnell, Luke F., Zuccarino, Riccardo, Wastling, Stephen, Milev, Evelin, Banks, Tina, Shah, Sachit, Zafeiropoulos, Nick, Stephens, Katherine J., Sarkozy, Anna, Grider, Tiffany, Feely, Shawna M. E., Manzur, Adnan, Shy, Rosemary R., Skorupinska, Mariola, Pipis, Menelaos, Nicolaisen, Emma, McDowell, Amy, Dilek, Nuran, Rossor, Alexander M., Laura, Matilde, Clark, Christopher, Muntoni, Francesco, Thedens, Daniel, Thornton, John, Morrow, Jasper M., Shy, Michael E., Reilly, Mary M.
Published in Annals of neurology (01.07.2024)
Published in Annals of neurology (01.07.2024)
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A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement
Rebelo, Adriana P, Cortese, Andrea, Abraham, Amit, Eshed-Eisenbach, Yael, Shner, Gal, Vainshtein, Anna, Buglo, Elena, Camarena, Vladimir, Gaidosh, Gabriel, Shiekhattar, Ramin, Abreu, Lisa, Courel, Steve, Burns, Dennis K, Bai, Yunhong, Bacon, Chelsea, Feely, Shawna M E, Castro, Diana, Peles, Elior, Reilly, Mary M, Shy, Michael E, Zuchner, Stephan
Published in Brain (London, England : 1878) (07.05.2021)
Published in Brain (London, England : 1878) (07.05.2021)
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Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot–Marie–Tooth Disease Type 2
Deng, Sheng, Feely, Shawna M. E., Shi, Yong, Zhai, Hong, Zhan, Luna, Siddique, Teepu, Deng, Han-Xiang, Shy, Michael E.
Published in Neuromolecular medicine (01.03.2020)
Published in Neuromolecular medicine (01.03.2020)
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Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years
Wu, Tong Tong, Finkel, Richard S, Siskind, Carly E, Feely, Shawna M E, Burns, Joshua, Reilly, Mary M, Muntoni, Francesco, Milev, Evelin, Estilow, Timothy, Shy, Michael E, Ramchandren, Sindhu
Published in Journal of the peripheral nervous system (01.09.2023)
Published in Journal of the peripheral nervous system (01.09.2023)
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PMP22 expression in dermal nerve myelin from patients with CMT1A
Katona, Istvan, Wu, Xingyao, Feely, Shawna M. E., Sottile, Stephanie, Siskind, Carly E., Miller, Lindsey J., Shy, Michael E., Li, Jun
Published in Brain (London, England : 1878) (01.07.2009)
Published in Brain (London, England : 1878) (01.07.2009)
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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