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Page 1
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
Drissi I, Fletcher E, Shaheen R, Nahorski M, Alhashem AM, Lisgo S, Fernández-Jaén A, Schon K, Tlili-Graiess K, Smithson SF, Lindsay S, J Sharpe H, Alkuraya FS, Woods G. Drissi I, et al. Among authors: nahorski m. J Med Genet. 2022 Apr;59(4):358-365. doi: 10.1136/jmedgenet-2020-107237. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820834 Free PMC article.
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Among authors: nahorski ms. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Nahorski MS, Maddirevula S, Ishimura R, Alsahli S, Brady AF, Begemann A, Mizushima T, Guzmán-Vega FJ, Obata M, Ichimura Y, Alsaif HS, Anazi S, Ibrahim N, Abdulwahab F, Hashem M, Monies D, Abouelhoda M, Meyer BF, Alfadhel M, Eyaid W, Zweier M, Steindl K, Rauch A, Arold ST, Woods CG, Komatsu M, Alkuraya FS. Nahorski MS, et al. Brain. 2018 Jul 1;141(7):1934-1945. doi: 10.1093/brain/awy135. Brain. 2018. PMID: 29868776 Free PMC article.
PEHO syndrome: the endpoint of different genetic epilepsies.
Chitre M, Nahorski MS, Stouffer K, Dunning-Davies B, Houston H, Wakeling EL, Brady AF, Zuberi SM, Suri M, Parker APJ, Woods CG. Chitre M, et al. Among authors: nahorski ms. J Med Genet. 2018 Dec;55(12):803-813. doi: 10.1136/jmedgenet-2018-105288. Epub 2018 Oct 4. J Med Genet. 2018. PMID: 30287594
Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel KV6.4 Subunit.
Lee MC, Nahorski MS, Hockley JRF, Lu VB, Ison G, Pattison LA, Callejo G, Stouffer K, Fletcher E, Brown C, Drissi I, Wheeler D, Ernfors P, Menon D, Reimann F, Smith ESJ, Woods CG. Lee MC, et al. Among authors: nahorski ms. Cell Rep. 2020 Jul 21;32(3):107941. doi: 10.1016/j.celrep.2020.107941. Cell Rep. 2020. PMID: 32697988 Free PMC article.
Evidence of a genetic background predisposing to complex regional pain syndrome type 1.
Shaikh SS, Goebel A, Lee MC, Nahorski MS, Shenker N, Pamela Y, Drissi I, Brown C, Ison G, Shaikh MF, Kuttikat A, Woods WA, Dixit A, Stouffer K, Clarke MC, Menon DK, Woods CG. Shaikh SS, et al. Among authors: nahorski ms. J Med Genet. 2024 Jan 19;61(2):163-170. doi: 10.1136/jmg-2023-109236. J Med Genet. 2024. PMID: 37816627 Free PMC article.
Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication.
Chavali PL, Stojic L, Meredith LW, Joseph N, Nahorski MS, Sanford TJ, Sweeney TR, Krishna BA, Hosmillo M, Firth AE, Bayliss R, Marcelis CL, Lindsay S, Goodfellow I, Woods CG, Gergely F. Chavali PL, et al. Among authors: nahorski ms. Science. 2017 Jul 7;357(6346):83-88. doi: 10.1126/science.aam9243. Epub 2017 Jun 1. Science. 2017. PMID: 28572454 Free PMC article.
Transcriptional regulator PRDM12 is essential for human pain perception.
Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Chen YC, et al. Among authors: nahorski ms. Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005867 Free PMC article.
26 results