Naess K - Search Results

1

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. 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.

2

Secondary metabolic effects in complex I deficiency.

Esteitie N, Hinttala R, Wibom R, Nilsson H, Hance N, Naess K, Teär-Fahnehjelm K, von Döbeln U, Majamaa K, Larsson NG. Esteitie N, et al. Among authors: naess k. Ann Neurol. 2005 Oct;58(4):544-52. doi: 10.1002/ana.20570. Ann Neurol. 2005. PMID: 16044424

3

Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT).

Malm G, Gustafsson B, Berglund G, Lindström M, Naess K, Borgström B, von Döbeln U, Ringdén O. Malm G, et al. Among authors: naess k. Acta Paediatr. 2008 Aug;97(8):1108-12. doi: 10.1111/j.1651-2227.2008.00811.x. Epub 2008 Apr 29. Acta Paediatr. 2008. PMID: 18452566

4

[Progress on lysosomal diseases yields hope for cure and improvement].

Malm G, von Döbeln U, Naess K, Ringdén O. Malm G, et al. Among authors: naess k. Lakartidningen. 2008 Dec 17;105(51-52):3731-5. Lakartidningen. 2008. PMID: 19278096 Review. Swedish. No abstract available.

5

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

Hoefs SJ, Dieteren CE, Rodenburg RJ, Naess K, Bruhn H, Wibom R, Wagena E, Willems PH, Smeitink JA, Nijtmans LG, van den Heuvel LP. Hoefs SJ, et al. Among authors: naess k. Hum Mutat. 2009 Jul;30(7):E728-36. doi: 10.1002/humu.21037. Hum Mutat. 2009. PMID: 19384974

6

AGC1 deficiency associated with global cerebral hypomyelination.

Wibom R, Lasorsa FM, Töhönen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A. Wibom R, et al. Among authors: naess k. N Engl J Med. 2009 Jul 30;361(5):489-95. doi: 10.1056/NEJMoa0900591. N Engl J Med. 2009. PMID: 19641205 Free article.

7

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: naess k. 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

8

Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency.

Fahnehjelm KT, Olsson M, Naess K, Wiberg M, Ygge J, Martin L, von Döbeln U. Fahnehjelm KT, et al. Among authors: naess k. Acta Ophthalmol. 2012 Feb;90(1):32-43. doi: 10.1111/j.1755-3768.2010.01865.x. Epub 2010 Mar 23. Acta Ophthalmol. 2012. PMID: 20346082 Free article.

9

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Tuppen HA, Naess K, Kennaway NG, Al-Dosary M, Lesko N, Yarham JW, Bruhn H, Wibom R, Nennesmo I, Weleber RG, Blakely EL, Taylor RW, McFarland R. Tuppen HA, et al. Among authors: naess k. Eur J Hum Genet. 2012 Aug;20(8):897-904. doi: 10.1038/ejhg.2012.44. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378285 Free PMC article.

10

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. JIMD Rep. 2012;4:67-73. doi: 10.1007/8904_2011_73. Epub 2011 Oct 20. JIMD Rep. 2012. PMID: 23430898 Free PMC article.

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