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Page 1
Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease.
Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Eichinger K, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS. Burns J, et al. Among authors: estilow t. Clin Biomech (Bristol, Avon). 2012 Aug;27(7):744-7. doi: 10.1016/j.clinbiomech.2012.02.006. Epub 2012 Mar 16. Clin Biomech (Bristol, Avon). 2012. PMID: 22424781 Free PMC article.
Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.
Burns J, Menezes M, Finkel RS, Estilow T, Moroni I, Pagliano E, Laurá M, Muntoni F, Herrmann DN, Eichinger K, Shy R, Pareyson D, Reilly MM, Shy ME. Burns J, et al. Among authors: estilow t. J Peripher Nerv Syst. 2013 Jun;18(2):177-80. doi: 10.1111/jns5.12024. J Peripher Nerv Syst. 2013. PMID: 23781965 Free PMC article.
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.
Natural history of Charcot-Marie-Tooth disease during childhood.
Cornett KMD, Menezes MP, 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, Bray P, Halaki M, Shy ME, Burns J; CMTPedS Study Group. Cornett KMD, et al. Among authors: estilow t. Ann Neurol. 2017 Sep;82(3):353-359. doi: 10.1002/ana.25009. Ann Neurol. 2017. PMID: 28796392 Free PMC article.
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O. Mandarakas MR, et al. Among authors: estilow t. Brain. 2018 Dec 1;141(12):3319-3330. doi: 10.1093/brain/awy280. Brain. 2018. PMID: 30476010 Free PMC article.
Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O. Mandarakas MR, et al. Among authors: estilow t. Brain. 2019 Apr 1;142(4):e14. doi: 10.1093/brain/awy332. Brain. 2019. PMID: 30649217 Free PMC article. No abstract available.
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
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium; Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058 Free PMC article.
27 results