Nennesmo I - Search Results

1

Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene.

Baranowska I, Jäderlund KH, Nennesmo I, Holmqvist E, Heidrich N, Larsson NG, Andersson G, Wagner EG, Hedhammar A, Wibom R, Andersson L. Baranowska I, et al. Among authors: nennesmo i. PLoS Genet. 2009 May;5(5):e1000499. doi: 10.1371/journal.pgen.1000499. Epub 2009 May 29. PLoS Genet. 2009. PMID: 19492087 Free PMC article.

2

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.

Naess K, Freyer C, Bruhn H, Wibom R, Malm G, Nennesmo I, von Döbeln U, Larsson NG. Naess K, et al. Among authors: nennesmo i. Biochim Biophys Acta. 2009 May;1787(5):484-90. doi: 10.1016/j.bbabio.2008.11.014. Epub 2008 Dec 6. Biochim Biophys Acta. 2009. PMID: 19103152 Free article.

3

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

Naess K, Barbaro M, Bruhn H, Wibom R, Nennesmo I, von Döbeln U, Larsson NG, Nemeth A, Lesko N. Naess K, et al. Among authors: nennesmo i. JIMD Rep. 2012;4:67-73. doi: 10.1007/8904_2011_73. Epub 2011 Oct 20. JIMD Rep. 2012. PMID: 23430898 Free PMC article.

4

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.

5

Autosomal dominant cerebellar ataxia deafness and narcolepsy.

Melberg A, Hetta J, Dahl N, Nennesmo I, Bengtsson M, Wibom R, Grant C, Gustavson KH, Lundberg PO. Melberg A, et al. Among authors: nennesmo i. J Neurol Sci. 1995 Dec;134(1-2):119-29. doi: 10.1016/0022-510x(95)00228-0. J Neurol Sci. 1995. PMID: 8747854

6

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.

Lesko N, Naess K, Wibom R, Solaroli N, Nennesmo I, von Döbeln U, Karlsson A, Larsson NG. Lesko N, et al. Among authors: nennesmo i. Neuromuscul Disord. 2010 Mar;20(3):198-203. doi: 10.1016/j.nmd.2009.11.013. Epub 2010 Jan 18. Neuromuscul Disord. 2010. PMID: 20083405

7

Monozygotic twins with MELAS-like syndrome lacking ragged red fibers and lactacidaemia.

Melberg A, Akerlund P, Raininko R, Silander HC, Wibom R, Khaled A, Nennesmo I, Lundberg PO, Olsson Y. Melberg A, et al. Among authors: nennesmo i. Acta Neurol Scand. 1996 Oct;94(4):233-41. doi: 10.1111/j.1600-0404.1996.tb07058.x. Acta Neurol Scand. 1996. PMID: 8937533

8

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.

Naess K, Bruhn H, Stranneheim H, Freyer C, Wibom R, Mourier A, Engvall M, Nennesmo I, Lesko N, Wredenberg A, Wedell A, von Döbeln U. Naess K, et al. Among authors: nennesmo i. J Pediatr. 2021 Jan;228:240-251.e2. doi: 10.1016/j.jpeds.2020.08.025. Epub 2020 Aug 19. J Pediatr. 2021. PMID: 32827528

9

Alterations of mitochondrial function and correlations with personality traits in selected major depressive disorder patients.

Gardner A, Johansson A, Wibom R, Nennesmo I, von Döbeln U, Hagenfeldt L, Hällström T. Gardner A, et al. Among authors: nennesmo i. J Affect Disord. 2003 Sep;76(1-3):55-68. doi: 10.1016/s0165-0327(02)00067-8. J Affect Disord. 2003. PMID: 12943934

10

Fatal neonatal lactic acidosis with respiratory insufficiency due to complex I and IV deficiency.

von Döbeln U, Wibom R, Ahlman H, Nennesmo I, Nyctelius H, Hultman E, Hagenfeldt L. von Döbeln U, et al. Among authors: nennesmo i. Acta Paediatr. 1993 Dec;82(12):1079-81. doi: 10.1111/j.1651-2227.1993.tb12818.x. Acta Paediatr. 1993. PMID: 8155932

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