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Designing and Implementing a Web-Based Platform for Accurate and Reliable Clinical Outcome Measures and Global Certification for Evaluating Charcot-Marie-Tooth disease Cornett, Kayla M. D.; Estilow, Tim; Bray, Paula; Mandarakas, Melissa R.; Donlevy, Gabrielle A.; Baldwin, Jennifer N.; Eichinger, Kate; Finkel, Richard S.; Burns, Joshua; McKay, Marnee J. Share Save
The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN) Schierbaum, Luca; Quiroz, Vicente; Yang, Kathryn; Rong, Joshua; Battaglia, Nicole; Zubair, Umar; Christie, Michelle; Davis, Marie; Calame, Daniel; Danzi, Matt C.; Finkel, Richard S.; Burns, Joshua; Gilbert, Donald L.; Mingbunjerdsuk, Dararat; Pruitt, Greg; Pruitt, Norma; Cobb, John; Sadjadi, Reza; Cashman, Christopher R.; Blackstone, Craig; Fink, John K.; Shy, Michael E.; Zuchner, Stephan; Ebrahimi-Fakhari, Darius Share Save
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Goal-Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single-Blind, Randomized Controlled Superiority Trial Milne, Sarah C.; Roberts, Melissa; Williams, Shannon; Chua, Jillian; Grootendorst, Alison C.; Agostinelli, Genevieve; Grobler, Anneke C.; Ross, Hannah L.; Robinson, Amy; Grove, Kristen; Modderman, Gabrielle; Price, Annabel; Thomson, Megan; Massey, Libby; Liang, Christina; Kumar, Kishore R.; Dalziel, Kim; Burns, Joshua; Sue, Carolyn M.; Pathirana, Pubudu N.; Horne, Malcolm; Gelfard, Nikki; Curd, Helen; Szmulewicz, David; Corben, Louise A.; Delatycki, Martin B. Share Save
RNA mis-splicing in children with congenital myotonic dystrophy is associated with physical function Hartman, Julia M.; Ikegami, Kobe; Provenzano, Marina; Bates, Kameron; Butler, Amanda; Jones, Aileen S.; Berggren, Kiera N.; Dekdebrun, Jeanne; McKay, Marnee J.; Baldwin, Jennifer N.; Cornett, Kayla M. D.; Burns, Joshua; Kiefer, Michael; Johnson, Nicholas E.; Hale, Melissa A. Share Save
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Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure Mandarakas, Melissa R.; Eichinger, Katy J.; Bray, Paula; Cornett, Kayla M. D.; Shy, Michael E.; Reilly, Mary M.; Ramdharry, Gita M.; Scherer, Steven S.; Pareyson, Davide; Estilow, Timothy; McKay, Marnee J.; Herrmann, David N.; Burns, Joshua Share Save
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Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease Donlevy, Gabrielle A.; Cornett, Kayla M. D.; 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. Share Save
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants 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. Share Save
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; Siskind, Carly E.; Feely, Shawna M. E.; Burns, Joshua; Reilly, Mary M.; Muntoni, Francesco; Milev, Evelin; Estilow, Timothy; Shy, Michael E.; Ramchandren, Sindhu Share Save
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history Rehbein, Tyler; Wu, Tong Tong; Treidler, Simona; Pareyson, Davide; Lewis, Richard; Yum, Sabrina W.; McCray, Brett A.; Ramchandren, Sindhu; Burns, Joshua; Li, Jun; Finkel, Richard S.; Scherer, Steven S.; Zuchner, Stephan; Shy, Michael E.; Reilly, Mary M.; Herrmann, David N. Share Save
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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. S.; Siskind, Carly E. E.; Feely, Shawna M. E.; Burns, Joshua; Reilly, Mary M. M.; Muntoni, Francesco; Estilow, Timothy; Shy, Michael E. E.; Ramchandren, Sindhu Share Save
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease Yiu, Eppie M.; Bray, Paula; Baets, Jonathan; Baker, Steven K.; Barisic, Nina; de Valle, Katy; Estilow, Timothy; Farrar, Michelle A.; Finkel, Richard S.; Haberlova, Jana; Kennedy, Rachel A.; Moroni, Isabella; Nicholson, Garth A.; Ramchandren, Sindhu; Reilly, Mary M.; Rose, Kristy; Shy, Michael E.; Siskind, Carly E.; Yum, Sabrina W.; Menezes, Manoj P.; Ryan, Monique M.; Burns, Joshua Share Save
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