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Page 1
Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.
Carroll A, Dyck PJ, de Carvalho M, Kennerson M, Reilly MM, Kiernan MC, Vucic S. Carroll A, et al. Among authors: kennerson m. J Neurol Neurosurg Psychiatry. 2022 Jun;93(6):668-678. doi: 10.1136/jnnp-2021-327909. Epub 2022 Mar 7. J Neurol Neurosurg Psychiatry. 2022. PMID: 35256455 Free PMC article. Review.
CMT with pyramidal features. Charcot-Marie-Tooth.
Vucic S, Kennerson M, Zhu D, Miedema E, Kok C, Nicholson GA. Vucic S, et al. Among authors: kennerson m. Neurology. 2003 Feb 25;60(4):696-9. doi: 10.1212/01.wnl.0000048561.61921.71. Neurology. 2003. PMID: 12601114
Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy.
Shahrizaila N, Noto Y, Simon NG, Huynh W, Shibuya K, Matamala JM, Dharmadasa T, Devenney E, Kennerson ML, Nicholson GA, Kiernan MC. Shahrizaila N, et al. Among authors: kennerson ml. Clin Neurophysiol. 2017 Jan;128(1):227-232. doi: 10.1016/j.clinph.2016.11.010. Epub 2016 Nov 21. Clin Neurophysiol. 2017. PMID: 27940147
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Kumar KR, Cortese A, Tomlinson SE, Efthymiou S, Ellis M, Zhu D, Stoll M, Dominik N, Tisch S, Tchan M, Wu KHC, Devery S, Spring PJ, Hawke S, Cremer P, Ng K, Reilly MM, Nicholson GA, Houlden H, Kennerson M. Kumar KR, et al. Among authors: kennerson m. Brain. 2020 Oct 1;143(10):e82. doi: 10.1093/brain/awaa244. Brain. 2020. PMID: 32949124 Free PMC article. No abstract available.
Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.
Narayanan RK, Brewer MH, Perez-Siles G, Ellis M, Ly C, Burgess A, Neumann B, Nicholson GA, Vucic S, Kennerson ML. Narayanan RK, et al. Among authors: kennerson ml. Hum Mol Genet. 2021 Dec 17;31(1):133-145. doi: 10.1093/hmg/ddab228. Hum Mol Genet. 2021. PMID: 34387338 Free PMC article.
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
Grosz BR, Stevanovski I, Negri S, Ellis M, Barnes S, Reddel S, Vucic S, Nicholson GA, Cortese A, Kumar KR, Deveson IW, Kennerson ML. Grosz BR, et al. Among authors: kennerson ml. J Peripher Nerv Syst. 2022 Jun;27(2):120-126. doi: 10.1111/jns.12485. Epub 2022 Mar 5. J Peripher Nerv Syst. 2022. PMID: 35224818
Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated gene Zmynd11 prior to onset of motor symptoms.
Narayanan RK, Panwar A, Butler TJ, Cutrupi AN, Kennerson M, Vucic S, Ashokkumar B, Mangelsdorf M, Wallace RH. Narayanan RK, et al. Among authors: kennerson m. MicroPubl Biol. 2023 Mar 14;2023:10.17912/micropub.biology.000777. doi: 10.17912/micropub.biology.000777. eCollection 2023. MicroPubl Biol. 2023. PMID: 37008727 Free PMC article.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Among authors: kennerson m. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
106 results