Jonsrud C - Search Results

1

Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).

Jensen SM, Müller KI, Mellgren SI, Bindoff LA, Rasmussen M, Ørstavik K, Jonsrud C, Tveten K, Nilssen Ø, Van Ghelue M, Arntzen KA. Jensen SM, et al. Among authors: jonsrud c. Neuromuscul Disord. 2023 Feb;33(2):119-132. doi: 10.1016/j.nmd.2022.11.005. Epub 2022 Nov 25. Neuromuscul Disord. 2023. PMID: 36522254 Free article.

2

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.

Ørstavik K, Arntzen KA, Mathisen P, Backe PH, Tangeraas T, Rasmussen M, Kristensen E, Van Ghelue M, Jonsrud C, Bliksrud YT. Ørstavik K, et al. Among authors: jonsrud c. JIMD Rep. 2022 Mar 1;63(3):193-198. doi: 10.1002/jmd2.12276. eCollection 2022 May. JIMD Rep. 2022. PMID: 35433169 Free PMC article.

3

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: jonsrud c. 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.

4

The prevalence of hereditary neuromuscular disorders in Northern Norway.

Müller KI, Ghelue MV, Lund I, Jonsrud C, Arntzen KA. Müller KI, et al. Among authors: jonsrud c. Brain Behav. 2021 Jan;11(1):e01948. doi: 10.1002/brb3.1948. Epub 2020 Nov 13. Brain Behav. 2021. PMID: 33185984 Free PMC article.

5

A Middle-Aged Man Presenting With Progressive Heart Failure, Myopathy, and Monoclonal Gammopathy of Uncertain Significance.

Broch K, Popperud T, Gude E, Fløisand Y, Antal EA, Bosse G, Jonsrud C, Hegard T, Skaara S, Elsais A. Broch K, et al. Among authors: jonsrud c. JACC Case Rep. 2020 Apr 8;2(5):785-789. doi: 10.1016/j.jaccas.2020.02.024. eCollection 2020 May. JACC Case Rep. 2020. PMID: 34317348 Free PMC article.

6

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Jarhelle E, Riise Stensland HMF, Hansen GÅM, Skarsfjord S, Jonsrud C, Ingebrigtsen M, Strømsvik N, Van Ghelue M. Jarhelle E, et al. Among authors: jonsrud c. Sci Rep. 2019 Dec 27;9(1):19986. doi: 10.1038/s41598-019-55515-x. Sci Rep. 2019. PMID: 31882575 Free PMC article.

7

[A 50-year-old man with proximal pareses and heart disease].

Ørstavik K, Garfelt B, Leren TP, Saberniak J, Haugaa K, Jonsrud C. Ørstavik K, et al. Among authors: jonsrud c. Tidsskr Nor Laegeforen. 2017 Sep 4;137(16). doi: 10.4045/tidsskr.16.0789. Print 2017 Sep 5. Tidsskr Nor Laegeforen. 2017. PMID: 28871726 Free article. Norwegian. No abstract available.

8

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.

Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M. Vissing J, et al. Among authors: jonsrud c. Brain. 2016 Aug;139(Pt 8):2154-63. doi: 10.1093/brain/aww133. Epub 2016 Jun 3. Brain. 2016. PMID: 27259757

9

Survival of patients with BRCA1-associated breast cancer diagnosed in an MRI-based surveillance program.

Møller P, Stormorken A, Jonsrud C, Holmen MM, Hagen AI, Clark N, Vabø A, Sun P, Narod SA, Mæhle L. Møller P, et al. Among authors: jonsrud c. Breast Cancer Res Treat. 2013 May;139(1):155-61. doi: 10.1007/s10549-013-2540-z. Epub 2013 Apr 25. Breast Cancer Res Treat. 2013. PMID: 23615785

10

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Løseth S, Voermans NC, Torbergsen T, Lillis S, Jonsrud C, Lindal S, Kamsteeg EJ, Lammens M, Broman M, Dekomien G, Maddison P, Muntoni F, Sewry C, Radunovic A, de Visser M, Straub V, van Engelen B, Jungbluth H. Løseth S, et al. Among authors: jonsrud c. J Neurol. 2013 Jun;260(6):1504-10. doi: 10.1007/s00415-012-6817-7. Epub 2013 Jan 18. J Neurol. 2013. PMID: 23329375

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

20 results

Search Page

Filters