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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.
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.
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF. Chen YZ, et al. Among authors: kennerson ml. Am J Hum Genet. 2004 Jun;74(6):1128-35. doi: 10.1086/421054. Epub 2004 Apr 21. Am J Hum Genet. 2004. PMID: 15106121 Free PMC article.
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Züchner S, et al. Among authors: kennerson m. Nat Genet. 2005 Mar;37(3):289-94. doi: 10.1038/ng1514. Epub 2005 Jan 30. Nat Genet. 2005. PMID: 15731758
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