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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 1
2012 2
2014 1
2015 3
2016 1
2017 2
2018 2
2019 1
2020 5
2021 5
2022 1
2023 6
2024 2

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30 results

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Page 1
Novel findings in a Swedish primary familial brain calcification cohort.
Sennfält S, Gustavsson P, Malmgren H, Gilland E, Almqvist H, Oscarson M, Engvall M, Björkhem I, Nilsson D, Lagerstedt-Robinson K, Svenningsson P, Paucar M. Sennfält S, et al. Among authors: engvall m. J Neurol Sci. 2024 Apr 18;460:123020. doi: 10.1016/j.jns.2024.123020. Online ahead of print. J Neurol Sci. 2024. PMID: 38642488 Free article.
Functional Limitations and Exercise Intolerance in Patients With Post-COVID Condition: A Randomized Crossover Clinical Trial.
Tryfonos A, Pourhamidi K, Jörnåker G, Engvall M, Eriksson L, Elhallos S, Asplund N, Mandic M, Sundblad P, Sepic A, Rullman E, Hyllienmark L, Rundqvist H, Lundberg TR, Gustafsson T. Tryfonos A, et al. Among authors: engvall m. JAMA Netw Open. 2024 Apr 1;7(4):e244386. doi: 10.1001/jamanetworkopen.2024.4386. JAMA Netw Open. 2024. PMID: 38573638 Free article. Clinical Trial.
Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations.
Zhang J, Koolmeister C, Han J, Filograna R, Hanke L, Àdori M, Sheward DJ, Teifel S, Gopalakrishna S, Shao Q, Liu Y, Zhu K, Harris RA, McInerney G, Murrell B, Aoun M, Bäckdahl L, Holmdahl R, Pekalski M, Wedell A, Engvall M, Wredenberg A, Karlsson Hedestam GB, Castro Dopico X, Rorbach J. Zhang J, et al. Among authors: engvall m. JCI Insight. 2023 Sep 8;8(17):e167656. doi: 10.1172/jci.insight.167656. JCI Insight. 2023. PMID: 37681412 Free PMC article.
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. Among authors: engvall m. Front Neurol. 2023 May 18;14:1170005. doi: 10.3389/fneur.2023.1170005. eCollection 2023. Front Neurol. 2023. PMID: 37273706 Free PMC article.
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Stenton SL, Tesarova M, Sheremet NL, Catarino CB, Carelli V, Ciara E, Curry K, Engvall M, Fleming LR, Freisinger P, Iwanicka-Pronicka K, Jurkiewicz E, Klopstock T, Koenig MK, Kolářová H, Kousal B, Krylova T, La Morgia C, Nosková L, Piekutowska-Abramczuk D, Russo SN, Stránecký V, Tóthová I, Träisk F, Prokisch H. Stenton SL, et al. Among authors: engvall m. Brain. 2022 Jun 3;145(5):1624-1631. doi: 10.1093/brain/awac052. Brain. 2022. PMID: 35148383 Free PMC article.
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N. Björkman K, et al. Among authors: engvall m. J Med Genet. 2023 Jan;60(1):65-73. doi: 10.1136/jmedgenet-2021-108006. Epub 2021 Dec 6. J Med Genet. 2023. PMID: 34872991 Free PMC article.
30 results