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Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M, Nilsson D, Engvall M, Malmgren H, Thonberg H, Pettersson M, Anderlid BM, Hammarsjö A, Helgadottir HT, Arnardottir S, Naess K, Nennesmo I, Paucar M, Hjartarson HT, Press R, Solders G, Sejersen T, Lindstrand A, Kvarnung M. Ek M, et al. Front Neurol. 2023 May 18;14:1170005. doi: 10.3389/fneur.2023.1170005. eCollection 2023. Front Neurol. 2023. PMID: 37273706 Free PMC article.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand A, Ek M, Kvarnung M, Anderlid BM, Björck E, Carlsten J, Eisfeldt J, Grigelioniene G, Gustavsson P, Hammarsjö A, Helgadóttir HT, Hellström-Pigg M, Kuchinskaya E, Lagerstedt-Robinson K, Levin LÅ, Lieden A, Lindelöf H, Malmgren H, Nilsson D, Svensson E, Paucar M, Sahlin E, Tesi B, Tham E, Winberg J, Winerdal M, Wincent J, Johansson Soller M, Pettersson M, Nordgren A. Lindstrand A, et al. Among authors: ek m. Genet Med. 2022 Nov;24(11):2296-2307. doi: 10.1016/j.gim.2022.07.022. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36066546 Free article.
Selective and Bioavailable HDAC6 2-(Difluoromethyl)-1,3,4-oxadiazole Substrate Inhibitors and Modeling of Their Bioactivation Mechanism.
Ripa L, Sandmark J, Hughes G, Shamovsky I, Gunnarsson A, Johansson J, Llinas A, Collins M, Jung B, Novén A, Pemberton N, Mogemark M, Xiong Y, Li Q, Tångefjord S, Ek M, Åstrand A. Ripa L, et al. Among authors: ek m. J Med Chem. 2023 Oct 26;66(20):14188-14207. doi: 10.1021/acs.jmedchem.3c01269. Epub 2023 Oct 5. J Med Chem. 2023. PMID: 37797307
Probing Catalyst Surfaces at the Atomic-scale.
Ek M, Hansen LP, Chen FR, van Dyck D, Kisielowski C, Specht P, Damsgaard CD, Jinschek JR, Helveg S. Ek M, et al. Microsc Microanal. 2023 Jul 22;29(Supplement_1):1291. doi: 10.1093/micmic/ozad067.660. Microsc Microanal. 2023. PMID: 37613447 No abstract available.
Mo3Ni2N Nanoparticle Generation by Spark Discharge.
Elmroth Nordlander J, Bermeo M, Ternero P, Wahlqvist D, Schmeida T, Blomberg S, Messing ME, Ek M, Hübner JM. Elmroth Nordlander J, et al. Among authors: ek m. Materials (Basel). 2023 Jan 27;16(3):1113. doi: 10.3390/ma16031113. Materials (Basel). 2023. PMID: 36770120 Free PMC article.
166 results