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Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.
Mandarakas MR, Eichinger KJ, Bray P, Cornett KMD, Shy ME, Reilly MM, Ramdharry GM, Scherer SS, Pareyson D, Estilow T, McKay MJ; for ACT-CMT Study Group; Herrmann DN, Burns J. Mandarakas MR, et al. Among authors: eichinger kj. Neurology. 2024 Feb 13;102(3):e207963. doi: 10.1212/WNL.0000000000207963. Epub 2024 Jan 18. Neurology. 2024. PMID: 38237108
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: eichinger kj. JAMA Neurol. 2016 Jun 1;73(6):645-51. doi: 10.1001/jamaneurol.2016.0171. JAMA Neurol. 2016. PMID: 27043305 Free PMC article.
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Panosyan FB, Laura M, Rossor AM, Pisciotta C, Piscosquito G, Burns J, Li J, Yum SW, Lewis RA, Day J, Horvath R, Herrmann DN, Shy ME, Pareyson D, Reilly MM, Scherer SS; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Panosyan FB, et al. Neurology. 2017 Aug 29;89(9):927-935. doi: 10.1212/WNL.0000000000004296. Epub 2017 Aug 2. Neurology. 2017. PMID: 28768847 Free PMC article. Clinical Trial.
The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM).
Eichinger K, Burns J, Cornett K, Bacon C, Shepherd ML, Mountain J, Sowden J, Shy R, Shy ME, Herrmann DN. Eichinger K, et al. Neurology. 2018 Oct 9;91(15):e1381-e1384. doi: 10.1212/WNL.0000000000006323. Epub 2018 Sep 19. Neurology. 2018. PMID: 30232254 Free PMC article.
Reliability of the Charcot-Marie-Tooth functional outcome measure.
Bray P, Cornett KMD, Estilow T, Pareyson D, Zuccarino R, Skorupinska M, Pipis M, Sowden JE, Scherer S, Reilly MM, Shy ME, Herrmann DN, Burns J, Eichinger KJ. Bray P, et al. Among authors: eichinger kj. J Peripher Nerv Syst. 2020 Sep;25(3):288-291. doi: 10.1111/jns.12406. Epub 2020 Aug 26. J Peripher Nerv Syst. 2020. PMID: 32844461 Free PMC article.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 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: eichinger kj. Neurology. 2021 Oct 26;97(17):e1727-e1736. doi: 10.1212/WNL.0000000000012725. Epub 2021 Sep 7. Neurology. 2021. PMID: 34493614 Free PMC article.
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease.
Donlevy GA, Cornett KMD, Garnett SP, Shy R, Estilow T, Yum SW, Anderson K, Pareyson D, Moroni I, Muntoni F, Reilly MM, Finkel RS, Herrmann DN, Eichinger KJ, Shy ME, Burns J, Menezes MP. Donlevy GA, et al. Among authors: eichinger kj. Neurology. 2023 Aug 15;101(7):e717-e727. doi: 10.1212/WNL.0000000000207488. Epub 2023 Jun 28. Neurology. 2023. PMID: 37380432
Prospective study of muscle cramps in Charcot-Marie-tooth disease.
Johnson NE, Sowden J, Dilek N, Eichinger K, Burns J, Mcdermott MP, Shy ME, Herrmann DN. Johnson NE, et al. Muscle Nerve. 2015 Apr;51(4):485-8. doi: 10.1002/mus.24333. Epub 2015 Feb 11. Muscle Nerve. 2015. PMID: 25042364 Free PMC article. Clinical Trial.
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