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63 results

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Page 1
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. Among authors: yum sw. Muscle Nerve. 2019 Sep;60(3):242-249. doi: 10.1002/mus.26500. Epub 2019 May 15. Muscle Nerve. 2019. PMID: 31026080 Free PMC article.
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC). Sanmaneechai O, et al. Among authors: yum sw. Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25. Brain. 2015. PMID: 26310628 Free PMC article.
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Motley WW, Palaima P, Yum SW, Gonzalez MA, Tao F, Wanschitz JV, Strickland AV, Löscher WN, De Vriendt E, Koppi S, Medne L, Janecke AR, Jordanova A, Zuchner S, Scherer SS. Motley WW, et al. Among authors: yum sw. Brain. 2016 Jun;139(Pt 6):1649-56. doi: 10.1093/brain/aww055. Epub 2016 Mar 23. Brain. 2016. PMID: 27009151 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: yum sw. 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. Among authors: yum sw. 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.
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: yum sw. 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: yum sw. 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: yum sw. Brain. 2019 Apr 1;142(4):e14. doi: 10.1093/brain/awy332. Brain. 2019. PMID: 30649217 Free PMC article. No abstract available.
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. Tao F, et al. Among authors: yum sw. Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426. Ann Neurol. 2019. PMID: 30706531 Free PMC article.
63 results