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European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain.
Smeets H, Verbrugge B, Bulbena X, Hristova L, Vogt J, van Beckhoven I; all participants; Patient organizations/patient representatives: LAMA2-Europe, Voor Sara-the Netherlands, ImpulsaT-Spain, LAMA2-France, CMD-Turkey, LAMA2-Bulgaria, Cure-CMD. Smeets H, et al. Neuromuscul Disord. 2024 Mar;36:16-22. doi: 10.1016/j.nmd.2024.01.001. Epub 2024 Jan 9. Neuromuscul Disord. 2024. PMID: 38306718
Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome.
Akinyele O, Munir A, Johnson MA, Perez MS, Gao Y, Foley JR, Wu Y, Murray-Stewart T, Casero RA Jr, Bayir H, Kemaladewi DU. Akinyele O, et al. bioRxiv [Preprint]. 2023 Feb 7:2023.01.15.524155. doi: 10.1101/2023.01.15.524155. bioRxiv. 2023. Update in: Dis Model Mech. 2024 Jun 1;17(6):dmm050639. doi: 10.1242/dmm.050639. PMID: 36711956 Free PMC article. Updated. Preprint.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Am J Hum Genet. 2019 May 2;104(5):1007. doi: 10.1016/j.ajhg.2019.04.004. Am J Hum Genet. 2019. PMID: 31051109 Free PMC article. No abstract available.
22 results