Charcot-marie-tooth disease subtypes and genetic testing strategies von Saporta, Anita S.D., Sottile, Stephanie L., Miller, Lindsey J., Feely, Shawna M.E., Siskind, Carly E., Shy, Michael E.

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Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy von 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.

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High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A: Results of a Randomized, Double-Masked, Controlled Trial von 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

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PMP22 expression in dermal nerve myelin from patients with CMT1A von Katona, Istvan, Wu, Xingyao, Feely, Shawna M. E., Sottile, Stephanie, Siskind, Carly E., Miller, Lindsey J., Shy, Michael E., Li, Jun

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A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT) von Siskind, Carly E., Panchal, Seema, Smith, Corrine O., Feely, Shawna M. E., Dalton, Joline C., Schindler, Alice B., Krajewski, Karen M.

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Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis von Sadjadi, Reza, Reilly, Mary M., Shy, Michael E., Pareyson, Davide, Laura, Matilde, Murphy, Sinead, Feely, Shawna M. E., Grider, Tiffany, Bacon, Chelsea, Piscosquito, Giuseppe, Calabrese, Daniela, Burns, Ted M.

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Validation of the parent‐proxy pediatric Charcot‐Marie‐Tooth disease quality of life outcome measure von 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

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Deficits in stepping response time are associated with impairments in balance and mobility in people with Huntington disease von Goldberg, Allon, Schepens, Stacey L, Feely, Shawna M.E, Garbern, James Y, Miller, Lindsey J, Siskind, Carly E, Conti, Gerry E

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Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot–Marie–Tooth Disease Type 2 von Deng, Sheng, Feely, Shawna M. E., Shi, Yong, Zhai, Hong, Zhan, Luna, Siddique, Teepu, Deng, Han-Xiang, Shy, Michael E.

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Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A von Doherty, Carolynne M., Morrow, Jasper M., Zuccarino, Riccardo, Howard, Paige, Wastling, Stephen, Pipis, Menelaos, Zafeiropoulos, Nick, Stephens, Katherine J., Grider, Tiffany, Feely, Shawna M. E., Nopoulous, Peggy, Skorupinska, Mariola, Milev, Evelin, Nicolaisen, Emma, Dudzeic, Magdalena, McDowell, Amy, Dilek, Nuran, Muntoni, Francesco, Rossor, Alexander M., Shah, Sachit, Laura, Matilde, Yousry, Tarek A., Thedens, Daniel, Thornton, John, Shy, Michael E., Reilly, Mary M.

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Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A von Wang, Hongge, Davison, Matthew, Wang, Kathryn, Xia, Tai‐He, Kramer, Martin, Call, Katherine, Luo, Jun, Wu, Xingyao, Zuccarino, Riccardo, Bacon, Chelsea, Bai, Yunhong, Moran, John J., Gutmann, Laurie, Feely, Shawna M. E., Grider, Tiffany, Rossor, Alexander M., Reilly, Mary M., Svaren, John, Shy, Michael E.

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Persistent CNS dysfunction in a boy with CMT1X von Siskind, Carly, Feely, Shawna M.E, Bernes, Saunder, Shy, Michael E, Garbern, James Y

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Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1 von Ajjarapu, Aparna, Feely, Shawna ME, Shy, Michael E., Trout, Christina, Zuchner, Stephan, Moore, Steven A., Mathews, Katherine D.

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A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations von Meyer-Schuman, Rebecca, Marte, Sheila, Smith, Tyler J, Feely, Shawna M E, Kennerson, Marina, Nicholson, Garth, Shy, Mike E, Koutmou, Kristin S, Antonellis, Anthony

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

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MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A von 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

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Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs von 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

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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 von 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.

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Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure von 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.

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Loss of function MPZ mutation causes milder CMT1B neuropathy von Howard, Paige, Feely, Shawna M. E., Grider, Tiffany, Bacha, Alexa, Scarlato, Marina, Fazio, Raffaella, Quattrini, Angelo, Shy, Michael E., Previtali, Stefano C.

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