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Congenital tremor and myopathy secondary to novel MYBPC1 variant.
Leduc-Pessah H, Smith IC, Kernohan KD, Sampaio M, Melkus G, Strasser L, Chisholm C, Huang L, Hanes I, Tran MA, Venkateswaran S, Muir K, Charlesworth L, Warman-Chardon J. Leduc-Pessah H, et al. Among authors: kernohan kd. J Neurol Sci. 2024 Feb 15;457:122864. doi: 10.1016/j.jns.2023.122864. Epub 2024 Jan 4. J Neurol Sci. 2024. PMID: 38185014
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
Kernohan KD, Tétreault M, Liwak-Muir U, Geraghty MT, Qin W, Venkateswaran S, Davila J; Care4Rare Canada Consortium; Holcik M, Majewski J, Richer J, Boycott KM. Kernohan KD, et al. Hum Mol Genet. 2015 Nov 15;24(22):6293-300. doi: 10.1093/hmg/ddv337. Epub 2015 Aug 24. Hum Mol Genet. 2015. PMID: 26307080 Free PMC article.
Yunis-Varón syndrome caused by biallelic VAC14 mutations.
Lines MA, Ito Y, Kernohan KD, Mears W, Hurteau-Miller J, Venkateswaran S, Ward L, Khatchadourian K, McClintock J, Bhola P; Care4Rare Consortium; Campeau PM, Boycott KM, Michaud J, van Kuilenburg AB, Ferdinandusse S, Dyment DA. Lines MA, et al. Among authors: kernohan kd. Eur J Hum Genet. 2017 Sep;25(9):1049-1054. doi: 10.1038/ejhg.2017.99. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635952 Free PMC article.
Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy.
Ito Y, Hartley T, Baird S, Venkateswaran S, Simons C, Wolf NI, Boycott KM, Dyment DA, Kernohan KD. Ito Y, et al. Among authors: kernohan kd. Neurol Genet. 2018 Nov 13;4(6):e288. doi: 10.1212/NXG.0000000000000288. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30643851 Free PMC article. No abstract available.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Among authors: kernohan kd. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
79 results