Search Results - "Estilow, Tim"

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability by 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.

“…Objective: Charcot–Marie–Tooth disease (CMT) is a common heritable peripheral neuropathy. There is no treatment for any form of CMT, although clinical trials…”
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Assessing non-Mendelian inheritance in inherited axonopathies by Bis-Brewer, Dana M., Gan-Or, Ziv, Sleiman, Patrick, Hakonarson, Hakon, Fazal, Sarah, Courel, Steve, Cintra, Vivian, Tao, Feifei, Estiar, Mehrdad A., Tarnopolsky, Mark, Boycott, Kym M., Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Cheng, Andrew, Lloyd, Thomas E., Rouleau, Guy, Schüle, Rebecca, Züchner, Stephan

“…Purpose Inherited axonopathies (IA) are rare, clinically and genetically heterogeneous diseases that lead to length-dependent degeneration of the long axons in…”
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Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS by 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

“…The CMT Pediatric Scale (CMTPedS) is a reliable, valid, and responsive clinical outcome measure of disability in children with CMT. The aim of this study was…”
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Development, reliability and validity of the Charcot‐Marie‐Tooth disease Pediatric Scale (CMTPedS) by Burns, Joshua, Finkel, Richard, Estilow, Tim, Hiscock, Andy, Laura, Matilde, Swingle, Polly, Patzko, Agnes, Glanzman, Allan, Acsadi, Gyula, Muntoni, Francesco, Reilly, Mary, Pareyson, Davide, Moroni, Isabella, Pagliano, Emanuela, Ramchandren, Sindhu, Eichinger, Kate, Ryan, Monique, Ouvrier, Robert, Shy, Michael, Shy, Rosemary

“…Results Findings of the development process: (1) the CMTPedS is a composite scale with broad application to measure disease severity of childhood CMT with…”
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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes by 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

“…Here we report biallelic mutations in the sorbitol dehydrogenase gene ( SORD ) as the most frequent recessive form of hereditary neuropathy. We identified 45…”
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Retrospective Analysis of Fractures and Factors Causing Ambulation Loss After Lower Limb Fractures in Duchenne Muscular Dystrophy by Yildiz, Sulenur, Glanzman, Allan M., Estilow, Tim, Flickinger, Jean, Brandsema, John F., Tennekoon, Gihan, Banwell, Brenda L., Yum, Sabrina

“…OBJECTIVEPrevalence and characteristics of fractures and factors related to loss of ambulation after lower limb fractures were investigated. DESIGNChart review…”
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Symmetry of foot alignment and ankle flexibility in paediatric Charcot–Marie–Tooth disease by Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Eichinger, Kate, Muntoni, Francesco, Reilly, Mary M, Pareyson, Davide, Acsadi, Gyula, Shy, Michael E, Finkel, Richard S

“…Abstract Background Charcot–Marie–Tooth disease is the most common inherited nerve disorder and typically presents with pes cavus foot deformity and ankle…”
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Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease by Burns, Joshua, Menezes, Manoj, Finkel, Richard S., Estilow, Tim, Moroni, Isabella, Pagliano, Emanuela, Laurá, Matilde, Muntoni, Francesco, Herrmann, David N., Eichinger, Kate, Shy, Rosemary, Pareyson, Davide, Reilly, Mary M., Shy, Michael E.

“…Long‐term studies of Charcot‐Marie‐Tooth (CMT) disease across the entire lifespan require stable endpoints that measure the same underlying construct (e.g.,…”
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Validation of the CMT Pediatric Scale as an outcome measure of disability by 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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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants by 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

“…Abstract Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterized by…”
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