Fagerheim T - Search Results

1

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: fagerheim t. 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

2

Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.

Fagerheim T, Nilssen O, Raeymaekers P, Brox V, Moum T, Elverland HH, Teig E, Omland HH, Fostad GK, Tranebjaerg L. Fagerheim T, et al. Hum Mol Genet. 1996 Aug;5(8):1187-91. doi: 10.1093/hmg/5.8.1187. Hum Mol Genet. 1996. PMID: 8842739

3

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: fagerheim t. 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.

4

Alhamidi M, Kjeldsen Buvang E, Fagerheim T, Brox V, Lindal S, Van Ghelue M, Nilssen Ø. Alhamidi M, et al. Among authors: fagerheim t. 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

Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.

Østern R, Fagerheim T, Hjellnes H, Nygård B, Mellgren SI, Nilssen Ø. Østern R, et al. Among authors: fagerheim t. BMC Med Genet. 2013 Sep 21;14:94. doi: 10.1186/1471-2350-14-94. BMC Med Genet. 2013. PMID: 24053775 Free PMC article.

6

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.

Østern R, Fagerheim T, Hjellnes H, Nygård B, Mellgren SI, Nilssen Ø. Østern R, et al. Among authors: fagerheim t. BMC Med Genet. 2014 Jan 21;15:12. doi: 10.1186/1471-2350-15-12. BMC Med Genet. 2014. PMID: 24444136 Free PMC article.

7

Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence.

Arntzen KA, Høyer H, Ørstavik K, Tallaksen C, Vedeler C, Østern R, Nebuchennykh M, Braathen GJ, Fagerheim T. Arntzen KA, et al. Among authors: fagerheim t. Neuromuscul Disord. 2018 Aug;28(8):639-645. doi: 10.1016/j.nmd.2018.06.004. Epub 2018 Jun 15. Neuromuscul Disord. 2018. PMID: 30001926

8

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.

Løseth S, Høyer H, Le KM, Delpire E, Kinge E, Lande A, Hilmarsen HT, Fagerheim T, Nilssen Ø, Braathen GJ. Løseth S, et al. Among authors: fagerheim t. Brain. 2023 Mar 1;146(3):912-922. doi: 10.1093/brain/awac488. Brain. 2023. PMID: 36542484 Free PMC article.

9

Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13.

Tranebjaerg L, Teslovich TM, Jones M, Barmada MM, Fagerheim T, Dahl A, Escolar DM, Trent JM, Gillanders EM, Stephan DA. Tranebjaerg L, et al. Among authors: fagerheim t. Hum Genet. 2003 Aug;113(3):293-5. doi: 10.1007/s00439-003-0967-8. Epub 2003 Jun 17. Hum Genet. 2003. PMID: 12811539

10

A new gene (DYX3) for dyslexia is located on chromosome 2.

Fagerheim T, Raeymaekers P, Tønnessen FE, Pedersen M, Tranebjaerg L, Lubs HA. Fagerheim T, et al. J Med Genet. 1999 Sep;36(9):664-9. J Med Genet. 1999. PMID: 10507721 Free PMC article.

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