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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 TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Muntoni F, Milev E, Estilow T, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. Wu TT, et al. Among authors: estilow t. J Peripher Nerv Syst. 2023 Sep;28(3):382-389. doi: 10.1111/jns.12557. Epub 2023 May 18. J Peripher Nerv Syst. 2023. PMID: 37166413
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP. Bushby K, et al. Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332. Muscle Nerve. 2014. PMID: 25042182 Free PMC article. Clinical Trial.
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J; Inherited Neuropathies Consortium. Cornett KM, et al. Among authors: estilow t. JAMA Neurol. 2016 Jun 1;73(6):645-51. doi: 10.1001/jamaneurol.2016.0171. JAMA Neurol. 2016. PMID: 27043305 Free PMC article.
Balance impairment in pediatric charcot-marie-tooth disease.
Estilow T, Glanzman AM, Burns J, Harrington A, Cornett K, Menezes MP, Shy R, Moroni I, Pagliano E, Pareyson D, Bhandari T, Muntoni F, Laurá M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Troutman G, Bray P, Halaki M, Shy ME, Yum SW; CMTPedS STUDY GROUP. Estilow T, et al. Muscle Nerve. 2019 Sep;60(3):242-249. doi: 10.1002/mus.26500. Epub 2019 May 15. Muscle Nerve. 2019. PMID: 31026080
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.
Cornett KMD, Menezes MP, Bray P, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Shy ME, Burns J; CMTPedS Study Group. Cornett KMD, et al. Among authors: estilow t. Ann Clin Transl Neurol. 2020 Sep;7(9):1713-1715. doi: 10.1002/acn3.51145. Epub 2020 Aug 6. Ann Clin Transl Neurol. 2020. PMID: 32762141 Free PMC article.
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease.
Donlevy GA, Garnett SP, Cornett KMD, McKay MJ, Baldwin JN, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laura M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden JE, Eichinger KJ, Herrmann DN, Shy ME, Burns J, Menezes MP. Donlevy GA, et al. Among authors: estilow t. Neurology. 2021 Oct 26;97(17):e1727-e1736. doi: 10.1212/WNL.0000000000012725. Epub 2021 Sep 7. Neurology. 2021. PMID: 34493614 Free PMC article.
27 results