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A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy.
Ygberg S, Akkuratov EE, Howard RJ, Taylan F, Jans DC, Mahato DR, Katz A, Kinoshita PF, Portal B, Nennesmo I, Lindskog M, Karlish SJD, Andersson M, Lindstrand A, Brismar H, Aperia A. Ygberg S, et al. Among authors: nennesmo i. J Biol Chem. 2021 Dec;297(6):101355. doi: 10.1016/j.jbc.2021.101355. Epub 2021 Oct 28. J Biol Chem. 2021. PMID: 34717959 Free PMC article.
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Balcin H, Palmio J, Penttilä S, Nennesmo I, Lindfors M, Solders G, Udd B. Balcin H, et al. Among authors: nennesmo i. Neuromuscul Disord. 2017 Jul;27(7):627-630. doi: 10.1016/j.nmd.2017.04.006. Epub 2017 Apr 18. Neuromuscul Disord. 2017. PMID: 28478914
Features of repeated muscle biopsies and phenotypes of monocytes in paired blood samples and clinical long-term response to treatment in patients with idiopathic inflammatory myopathy: a pilot study.
Tang Q, Gheorghe KR, Zhang XM, Lindroos E, Alexanderson H, Wick C, Bruton M, Fernandes-Cerqueira C, Harris RA, Nennesmo I, Lundberg IE. Tang Q, et al. Among authors: nennesmo i. Clin Exp Rheumatol. 2020 Jan-Feb;38(1):42-49. Epub 2019 May 22. Clin Exp Rheumatol. 2020. PMID: 31140400 Free article.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A. Kishita Y, et al. Among authors: nennesmo i. Am J Hum Genet. 2015 Nov 5;97(5):761-8. doi: 10.1016/j.ajhg.2015.09.013. Epub 2015 Oct 29. Am J Hum Genet. 2015. PMID: 26522469 Free PMC article.
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Bruhn H, Samuelsson K, Schober FA, Engvall M, Lesko N, Wibom R, Nennesmo I, Calvo-Garrido J, Press R, Stranneheim H, Freyer C, Wedell A, Wredenberg A. Bruhn H, et al. Among authors: nennesmo i. Neurol Genet. 2021 Mar 15;7(2):e566. doi: 10.1212/NXG.0000000000000566. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33732874 Free PMC article.
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Hedberg-Oldfors C, Abramsson A, Osborn DPS, Danielsson O, Fazlinezhad A, Nilipour Y, Hübbert L, Nennesmo I, Visuttijai K, Bharj J, Petropoulou E, Shoreim A, Vona B, Ahangari N, López MD, Doosti M, Banote RK, Maroofian R, Edling M, Taherpour M, Zetterberg H, Karimiani EG, Oldfors A, Jamshidi Y. Hedberg-Oldfors C, et al. Among authors: nennesmo i. Hum Mol Genet. 2019 Jun 1;28(11):1919-1929. doi: 10.1093/hmg/ddz032. Hum Mol Genet. 2019. PMID: 30715372 Free PMC article.
142 results