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Page 1
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.
Left ventricular diastolic function, assessed by echocardiography and tissue Doppler imaging, is a strong predictor of cardiovascular events, superior to global left ventricular longitudinal strain, in patients with type 2 diabetes.
Blomstrand P, Engvall M, Festin K, Lindström T, Länne T, Maret E, Nyström FH, Maret-Ouda J, Östgren CJ, Engvall J. Blomstrand P, et al. Among authors: engvall j, engvall m. Eur Heart J Cardiovasc Imaging. 2015 Sep;16(9):1000-7. doi: 10.1093/ehjci/jev027. Epub 2015 Mar 6. Eur Heart J Cardiovasc Imaging. 2015. PMID: 25750201
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
Stranneheim H, Engvall M, Naess K, Lesko N, Larsson P, Dahlberg M, Andeer R, Wredenberg A, Freyer C, Barbaro M, Bruhn H, Emahazion T, Magnusson M, Wibom R, Zetterström RH, Wirta V, von Döbeln U, Wedell A. Stranneheim H, et al. Among authors: engvall m. BMC Genomics. 2014 Dec 11;15(1):1090. doi: 10.1186/1471-2164-15-1090. BMC Genomics. 2014. PMID: 25495354 Free PMC article.
Epidemiology and Screening for Pompe Disease in Sweden.
Balcin H, Lindberg C, Lindvall B, Sundström A, Andersson B, Hult M, Engvall M, Solders G. Balcin H, et al. Among authors: engvall m. J Neuromuscul Dis. 2015;2(s1):S38. J Neuromuscul Dis. 2015. PMID: 27858632 No abstract available.
[Ataxia - a group of heterogeneous diseases].
Paucar M, Dahl N, Engvall M, Svenningsson P, Solders G. Paucar M, et al. Among authors: engvall m. Lakartidningen. 2020 Mar 9;117:FX4F. Lakartidningen. 2020. PMID: 32154899 Free article. Swedish.
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Ostergaard E, de Coo IFM, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. Hikmat O, et al. Among authors: engvall m. J Inherit Metab Dis. 2020 Jul;43(4):726-736. doi: 10.1002/jimd.12211. Epub 2020 Jan 23. J Inherit Metab Dis. 2020. PMID: 32391929
64 results