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., Zuchner, Stephan, Pareyson, Davide, Scherer, Steven S., Rossor, Alexander M., Shy, Michael E., Reilly, Mary M.

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The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM) von Eichinger, Katy, Burns, Joshua, Cornett, Kayla, Bacon, Chelsea, Shepherd, Mary Lohse, Mountain, Joan, Sowden, Janet, Shy, Rosemary, Shy, Michael E, Herrmann, David N

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Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability von Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Pallant, Julie F., Lek, Monkol, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.

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

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Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene von Sanmaneechai, Oranee, Feely, Shawna, Scherer, Steven S, Herrmann, David N, Burns, Joshua, Muntoni, Francesco, Li, Jun, Siskind, Carly E, Day, John W, Laura, Matilde, Sumner, Charlotte J, Lloyd, Thomas E, Ramchandren, Sindhu, Shy, Rosemary R, Grider, Tiffany, Bacon, Chelsea, Finkel, Richard S, Yum, Sabrina W, Moroni, Isabella, Piscosquito, Giuseppe, Pareyson, Davide, Reilly, Mary M, Shy, Michael E

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Natural history of Charcot‐Marie‐Tooth disease during childhood von Cornett, Kayla M.D., Menezes, Manoj P., Shy, Rosemary R., Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Timothy, Yum, Sabrina W., Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M., Finkel, Richard S., Eichinger, Kate J., Herrmann, David N., Bray, Paula, Halaki, Mark, Shy, Michael E., Burns, Joshua, Cornett, Kayla MD, Menezes, Manoj P, Ouvrier, Robert, Acsadi, Gyula, Shy, Rosemary R, Calabrese, Daniela, Foscan, Maria, Sala, Roberta, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Timothy, Yum, Sabrina W, Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M, Finkel, Richard S, Eichinger, Kate J, Herrmann, David N, Bray, Paula, Rose, Kristy, Halaki, Mark, Pallant, Julie, Lek, Monkol, Shy, Michael E, Burns, Joshua

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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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Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease von Cornett, Kayla MD, Menezes, Manoj P, Bray, Paula, Halaki, Mark, Shy, Rosemary R, Yum, Sabrina W, Estilow, Timothy, Moroni, Isabella, Foscan, Maria, Pagliano, Emanuela, Pareyson, Davide, Laurá, Matilde, Bhandari, Trupti, Muntoni, Francesco, Reilly, Mary M, Finkel, Richard S, Sowden, Janet, Eichinger, Katy J, Herrmann, David N, Shy, Michael E, Burns, Joshua

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Balance impairment in pediatric charcot–marie–tooth disease von Estilow, Timothy, Glanzman, Allan M., Burns, Joshua, Harrington, Ann, Cornett, Kayla, Menezes, Manoj P., Shy, Rosemary, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Bhandari, Trupti, Muntoni, Francesco, Laurá, Matilde, Reilly, Mary M., Finkel, Richard S., Eichinger, Kate J., Herrmann, David N., Troutman, Gregory, Bray, Paula, Halaki, Mark, Shy, Michael E., Yum, Sabrina W.

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Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease von Donlevy, Gabrielle A., Garnett, Sarah P., Cornett, Kayla M.D., McKay, Marnee J., Baldwin, Jennifer N., Shy, Rosemary R., Yum, Sabrina W., Estilow, Timothy, Moroni, Isabella, Foscan, Maria, Pagliano, Emanuela, Pareyson, Davide, Laura, Matilde, Bhandari, Trupti, Muntoni, Francesco, Reilly, Mary M., Finkel, Richard S., Sowden, Janet E., Eichinger, Katy J., Herrmann, David N., Shy, Michael E., Burns, Joshua, Menezes, Manoj P.

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Phenotypic clustering in MPZ mutations von Shy, Michael E., Jáni, Agnes, Krajewski, Karen, Grandis, Marina, Lewis, Richard A., Li, Jun, Shy, Rosemary R., Balsamo, Janne, Lilien, Jack, Garbern, James Y., Kamholz, John

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Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS von Cornett, Kayla M. D., Menezes, Manoj P., Bray, Paula, Shy, Rosemary R., Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Tim, Yum, Sabrina W., Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M., Finkel, Richard S., Eichinger, Katy J., Herrmann, David N., Shy, Michael E., Burns, Joshua

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50 Years Ago in The Journal of Pediatrics von Shy, Rosemary, MD, Gow, Alexander, PhD

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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes von 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

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Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study von 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.

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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants von Record, Christopher J, Skorupinska, Mariola, Laura, Matilde, Rossor, Alexander M, Pareyson, Davide, Pisciotta, Chiara, Feely, Shawna M E, Lloyd, Thomas E, Horvath, Rita, Sadjadi, Reza, Herrmann, David N, Li, Jun, Walk, David, Yum, Sabrina W, Lewis, Richard A, Day, John, Burns, Joshua, Finkel, Richard S, Saporta, Mario A, Ramchandren, Sindhu, Weiss, Michael D, Acsadi, Gyula, Fridman, Vera, Muntoni, Francesco, Poh, Roy, Polke, James M, Zuchner, Stephan, Shy, Michael E, Scherer, Steven S, Reilly, Mary M

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Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease von Donlevy, Gabrielle A, Cornett, Kayla MD, Garnett, Sarah P, Shy, Rosemary, Estilow, Timothy, Yum, Sabrina W, Anderson, Kimberly, Pareyson, Davide, Moroni, Isabella, Muntoni, Francesco, Reilly, Mary M., Finkel, Richard S., Herrmann, David N, Eichinger, Katy J, Shy, Michael E, Burns, Joshua, Menezes, Manoj P.

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Development and validation of the Charcot-Marie-Tooth Disease Infant Scale von Mandarakas, Melissa R, Menezes, Manoj P, Rose, Kristy J, Shy, Rosemary, Eichinger, Kate, Foscan, Maria, Estilow, Timothy, Kennedy, Rachel, Herbert, Karen, Bray, Paula, Refshauge, Kathryn, Ryan, Monique M, Yiu, Eppie M, Farrar, Michelle, Sampaio, Hugo, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Yum, Sabrina W, Herrmann, David N, Acsadi, Gyula, Shy, Michael E, Burns, Joshua, Sanmaneechai, Oranee

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Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study von 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.

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Validation of the Italian version of the Charcot‐Marie‐Tooth disease Pediatric Scale von Zuccarino, Riccardo, Prada, Valeria, Moroni, Isabella, Pagliano, Emanuela, Foscan, Maria, Robbiano, Giulia, Pisciotta, Chiara, Cornett, Kayla, Shy, Rosemary, Schenone, Angelo, Pareyson, Davide, Shy, Michael, Burns, Joshua

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