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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: cornett k. Muscle Nerve. 2019 Sep;60(3):242-249. doi: 10.1002/mus.26500. Epub 2019 May 15. Muscle Nerve. 2019. PMID: 31026080
Gait patterns of children and adolescents with Charcot-Marie-Tooth disease.
Wojciechowski E, Sman A, Cornett K, Raymond J, Refshauge K, Menezes MP, Burns J; FAST Study Group. Wojciechowski E, et al. Among authors: cornett k. Gait Posture. 2017 Jul;56:89-94. doi: 10.1016/j.gaitpost.2017.05.005. Epub 2017 May 8. Gait Posture. 2017. PMID: 28527386
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. Ann Neurol. 2017 Sep;82(3):353-359. doi: 10.1002/ana.25009. Ann Neurol. 2017. PMID: 28796392 Free PMC article.
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.
Kanhangad M, Cornett K, Brewer MH, Nicholson GA, Ryan MM, Smith RL, Subramanian GM, Young HK, Züchner S, Kennerson ML, Burns J, Menezes MP. Kanhangad M, et al. Among authors: cornett k. Neurology. 2018 May 8;90(19):e1706-e1710. doi: 10.1212/WNL.0000000000005479. Epub 2018 Apr 6. Neurology. 2018. PMID: 29626178 Free PMC article.
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. Among authors: cornett k. Neurology. 2018 Oct 9;91(15):e1381-e1384. doi: 10.1212/WNL.0000000000006323. Epub 2018 Sep 19. Neurology. 2018. PMID: 30232254 Free PMC article.
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.
Validation of the Italian version of the Charcot-Marie-Tooth disease Pediatric Scale.
Zuccarino R, Prada V, Moroni I, Pagliano E, Foscan M, Robbiano G, Pisciotta C, Cornett K, Shy R, Schenone A, Pareyson D, Shy M, Burns J. Zuccarino R, et al. Among authors: cornett k. J Peripher Nerv Syst. 2020 Jun;25(2):138-142. doi: 10.1111/jns.12383. Epub 2020 May 26. J Peripher Nerv Syst. 2020. PMID: 32394473
Author Correction: 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 Jun;52(6):640. doi: 10.1038/s41588-020-0649-7. Nat Genet. 2020. PMID: 32457452
Assessing non-Mendelian inheritance in inherited axonopathies.
Bis-Brewer DM, Gan-Or Z, Sleiman P; Inherited Neuropathy Consortium; Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, Cheng A, Lloyd TE, Rouleau G, Schüle R, Züchner S. Bis-Brewer DM, et al. Genet Med. 2020 Dec;22(12):2114-2119. doi: 10.1038/s41436-020-0924-0. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741968 Free PMC article.
61 results