Nilssen Ø - Search Results

1

Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene.

Müller KI, Nilssen Ø, Nebuchenykh M, Løseth S, Jonsrud C, Hoem G, Van Ghelue M, Arntzen KA. Müller KI, et al. Among authors: nilssen o. Neuromuscul Disord. 2022 Jan;32(1):75-79. doi: 10.1016/j.nmd.2021.11.007. Epub 2021 Nov 19. Neuromuscul Disord. 2022. PMID: 34922802 Free article.

2

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.

Stensland E, Lindal S, Jonsrud C, Torbergsen T, Bindoff LA, Rasmussen M, Dahl A, Thyssen F, Nilssen Ø. Stensland E, et al. Among authors: nilssen o. Neuromuscul Disord. 2011 Jan;21(1):41-6. doi: 10.1016/j.nmd.2010.08.008. Epub 2010 Oct 18. Neuromuscul Disord. 2011. PMID: 20961759

3

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.

Sun C, Van Ghelue M, Tranebjærg L, Thyssen F, Nilssen Ø, Torbergsen T. Sun C, et al. Among authors: nilssen o. Clin Genet. 2011 Dec;80(6):574-80. doi: 10.1111/j.1399-0004.2010.01616.x. Epub 2011 Jan 19. Clin Genet. 2011. PMID: 21204798

4

Alhamidi M, Kjeldsen Buvang E, Fagerheim T, Brox V, Lindal S, Van Ghelue M, Nilssen Ø. Alhamidi M, et al. Among authors: nilssen o. PLoS One. 2011;6(8):e22968. doi: 10.1371/journal.pone.0022968. Epub 2011 Aug 23. PLoS One. 2011. PMID: 21886772 Free PMC article.

5

Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation.

Alhamidi M, Brox V, Stensland E, Liset M, Lindal S, Nilssen Ø. Alhamidi M, et al. Among authors: nilssen o. Neuromuscul Disord. 2017 Jul;27(7):619-626. doi: 10.1016/j.nmd.2017.02.015. Epub 2017 Mar 4. Neuromuscul Disord. 2017. PMID: 28479227

6

Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.

Østern R, Fagerheim T, Ørstavik K, Holmøy T, Heiberg A, Lund-Petersen I, Strom TM, Nilssen Ø, Dahl A. Østern R, et al. Among authors: nilssen o. Neuromuscul Disord. 2012 Jun;22(6):511-21. doi: 10.1016/j.nmd.2012.01.011. Epub 2012 Apr 2. Neuromuscul Disord. 2012. PMID: 22475618

7

Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

Olsen TR, Tranebjaerg L, Kvittingen EA, Hagenfeldt L, Møller C, Nilssen O. Olsen TR, et al. Among authors: nilssen o. J Med Genet. 2002 Sep;39(9):e55. doi: 10.1136/jmg.39.9.e55. J Med Genet. 2002. PMID: 12205125 Free PMC article. No abstract available.

8

Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.

Tollersrud OK, Nilssen O, Tranebjaerg L, Borud O. Tollersrud OK, et al. Among authors: nilssen o. J Med Genet. 1994 May;31(5):360-3. doi: 10.1136/jmg.31.5.360. J Med Genet. 1994. PMID: 8064811 Free PMC article.

9

A simple and rapid PCR based method for AGU(Fin) determination.

Nilssen O, Tollersrud OK, Borud O, Tranebjaerg L. Nilssen O, et al. Hum Mol Genet. 1993 Apr;2(4):484. doi: 10.1093/hmg/2.4.484. Hum Mol Genet. 1993. PMID: 8504311 No abstract available.

10

Human cytomegalovirus (HCMV) and hearing impairment: infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 -- both involved in dominantly inherited, sensorineural, hearing impairment.

Nystad M, Fagerheim T, Brox V, Fortunato EA, Nilssen Ø. Nystad M, et al. Among authors: nilssen o. Mutat Res. 2008 Jan 1;637(1-2):56-65. doi: 10.1016/j.mrfmmm.2007.07.009. Epub 2007 Jul 25. Mutat Res. 2008. PMID: 17765268 Free PMC article.

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