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A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
McLaughlin HM, Sakaguchi R, Giblin W; NISC Comparative Sequencing Program; Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. McLaughlin HM, et al. Among authors: kennerson m. Hum Mutat. 2012 Jan;33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9. Hum Mutat. 2012. PMID: 22009580 Free PMC article.
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.
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.
El-Wahsh S, Fellner A, Hobbs M, Copty J, Deveson I, Stevanovski I, Stoll M, Zhu D, Narayanan RK, Grosz B, Worgan L, Cheong PL, Yeow D, Rudaks L, Hasan MM, Hayes VM, Kennerson M, Kumar KR, Hayes M. El-Wahsh S, et al. Among authors: kennerson m. Mov Disord Clin Pract. 2024 Mar 18. doi: 10.1002/mdc3.14023. Online ahead of print. Mov Disord Clin Pract. 2024. PMID: 38497520 No abstract available.
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.
Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.
Musa NH, Thilakavathy K, Mohamad NA, Kennerson ML, Inche Mat LN, Loh WC, Abdul Rashid AM, Baharin J, Ibrahim A, Wan Sulaiman WA, Hoo FK, Basri H, Yusof Khan AHK. Musa NH, et al. Among authors: kennerson ml. Front Genet. 2023 Jan 3;13:972007. doi: 10.3389/fgene.2022.972007. eCollection 2022. Front Genet. 2023. PMID: 36659963 Free PMC article.
Antenatal testing for Charcot-Marie-Tooth neuropathy.
Nicholson GA, Kennerson M, Morgan G, McDonald B, Kerr B. Nicholson GA, et al. Among authors: kennerson m. Med J Aust. 1992 Apr 20;156(8):579. doi: 10.5694/j.1326-5377.1992.tb121426.x. Med J Aust. 1992. PMID: 1565053 No abstract available.
102 results