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MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Marsili L, van Lint FHM, Russo F, van Spaendonck-Zwarts KY, Ader F, Bichon ML, Faivre L, Houweling AC, Isidor B, Lekanne Deprez RH, Cox MGPJ, Wilde AAM, Mazel B, Mercier S, Dooijes D, Millat G, Nguyen K, Post JG, Richard P, van de Beek I, Vermeer AMC, Boven L, Jongbloed JDH, van Tintelen JP; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart. Marsili L, et al. Neth Heart J. 2023 Aug;31(7-8):300-307. doi: 10.1007/s12471-023-01798-9. Epub 2023 Jul 24. Neth Heart J. 2023. PMID: 37488328 Free PMC article.
Management and outcomes of pregnant women with cardiovascular diseases in a cardio-obstetric team.
Richardson M, Bonnet JP, Coulon C, Domanski O, Constans B, Estevez MG, Gautier S, Marsili L, Hamoud YO, Coisne A, Ridon H, Polge AS, Mouton S, Haddad Y, Juthier F, Moussa M, Vehier CM, Lemesle G, Schurtz G, Garabedian C, Jourdain M, Ninni S, Brigadeau F, Montaigne D, Lamblin N, Ghesquiere L. Richardson M, et al. Among authors: marsili l. Arch Cardiovasc Dis. 2024 Apr 12:S1875-2136(24)00056-1. doi: 10.1016/j.acvd.2024.02.009. Online ahead of print. Arch Cardiovasc Dis. 2024. PMID: 38644069
High Amounts of Halogenated Natural Products in Sperm Whales (Physeter macrocephalus) from Two Italian Regions in the Mediterranean Sea.
Schweizer S, Halder K, Schäfer A, Hauns J, Marsili L, Mazzariol S, Fossi MC, Muñoz-Arnanz J, Jiménez B, Vetter W. Schweizer S, et al. Among authors: marsili l. Environ Health (Wash). 2024 Feb 19;2(4):233-242. doi: 10.1021/envhealth.3c00182. eCollection 2024 Apr 19. Environ Health (Wash). 2024. PMID: 38660428 Free PMC article.
GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.
Ojo OO, Bandres-Ciga S, Makarious MB, Crea PW, Hernandez DG, Houlden H, Rizig M, Singleton AB, Noyce AJ, Nalls MA, Blauwendraat C, Okubadejo NU; Nigeria Parkinson's Disease Research Network and the Global Parkinson's Genetics Program (GP2). Ojo OO, et al. Mov Disord. 2024 Apr;39(4):728-733. doi: 10.1002/mds.29753. Epub 2024 Feb 23. Mov Disord. 2024. PMID: 38390630
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Ader F, Jedraszak G, Janin A, Billon C, Buisson NR, Bloch A, Bensalah M, De Sandre-Giovannoli A, Goudal A, Marsili L, Cazeneuve C, Charron P, Millat G, Richard P; Cardiogen French Network of Molecular Biologists. Ader F, et al. Among authors: marsili l. Clin Genet. 2024 Jun;105(6):676-682. doi: 10.1111/cge.14505. Epub 2024 Feb 14. Clin Genet. 2024. PMID: 38356193
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.
Kim JJ, Vitale D, Otani DV, Lian MM, Heilbron K; 23andMe Research Team; Iwaki H, Lake J, Solsberg CW, Leonard H, Makarious MB, Tan EK, Singleton AB, Bandres-Ciga S, Noyce AJ; Global Parkinson’s Genetics Program (GP2); Blauwendraat C, Nalls MA, Foo JN, Mata I. Kim JJ, et al. Nat Genet. 2024 Jan;56(1):27-36. doi: 10.1038/s41588-023-01584-8. Epub 2023 Dec 28. Nat Genet. 2024. PMID: 38155330 Free PMC article.
257 results