Nevromuskulær forskning
Her finner du en oversikt over Nasjonalt senter for sjeldne diagnose - enhet nevromuskulære sykdommers forskningsprosjekter og publikasjoner.
Exploring self-management of diet and physical activity in CACNA1S-related hypokalemic periodic paralysis: A qualitative interview study. Welland NL, Venås BH, Ellefsen-Martinsen M, Fossmo HL, Rosenberger AD, Dahl H, Ørstavik K, Nordstrøm M. J Neuromuscul Dis. 2025 Jul;12(4):548-557. doi: 10.1177/22143602251342400. Epub 2025 May 21. PMID: 40397008.
Strain and Strain-Rate Imaging to Assess Cardiac Function in Patients With Limb-Girdle Muscular Dystrophy R9: An Observational Study of the Norwegian LGMDR9 Cohort. Caglayan S, Akay Caglayan H, Jensen SM, Arntzen KA, Rösner A. Segmental Echocardiography. 2025 Jun;42(6):e70202. doi: 10.1111/echo.70202. PMID: 40460190.
Multidisciplinary management and care in rare neuromuscular disorders: A call for action. Ørstavik K, Rosenberger AD, Fossmo HL, Nordstrøm M, de Visser M. Eur J Neurol. 2024 Jun;31(6):e16265. doi: 10.1111/ene.16265. Epub 2024 Feb 29. PMID: 38425128; PMCID: PMC11235946.
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9. Jensen SM, Friborg O, Mellgren SI, Müller KI, Bergvik S, Arntzen KA. J Neuromuscul Dis. 2024;11(1):59-74. doi: 10.3233/JND-221629. PMID: 37927270; PMCID: PMC10789334.
A scoping review of health literacy in rare disorders: key issues and research directions. Stenberg U, Westfal L, Dybesland Rosenberger A, Ørstavik K, Flink M, Holmen H, Systad S, Westermann KF, Velvin G Orphanet J Rare Dis. 2024 Sep 6;19(1):328. doi: 10.1186/s13023-024-03332-5. PMID: 39243094; PMCID: PMC11380335.
Nevrologi og nevrokirurgi- fra barn til voksen. Kap.18 Muskelsykdommer og nevromuskulære transmisjonssykdommer. Nils Erik Gilhus, Sean Wallace, Trine Haug Popperud, Kristin Ørstavik, Kjell Arne Arntzen. ISBN 9788245046571
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. Neuromuscul Disord. 2023 Feb;33(2):119-132. doi: 10.1016/j.nmd.2022.11.005. Epub 2022 Nov 25. PMID: 36522254.
Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). Jensen S, Abeler K, Friborg O, Rosner A, Olsborg C, Mellgren SI, Müller KI, Rosenberger AD, Vold ML, Arntzen KA. J Neurol. 2024 Jan;271(1):274-288. doi: 10.1007/s00415-023-11978-7. Epub 2023 Sep 11. PMID: 37695533; PMCID: PMC10770197.
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. JIMD Rep. 2022 Mar 1;63(3):193-198. doi: 10.1002/jmd2.12276. PMID: 35433169; PMCID: PMC8995838.
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. Neuromuscul Disord. 2022 Jan;32(1):75-79. doi: 10.1016/j.nmd.2021.11.007. Epub 2021 Nov 19. PMID: 34922802.
Trening og fysisk aktivitet for personer med Charcot-Marie-Tooth sykdom. Andreas Lahelle, Mari Ellefsen, Hanne L. Fossmo, Andreas Rosenberger, Aristomo Andries, Kjell Arne Arntzen, Cecilie Thommessen, Christian Vedeler, Kristin Ørstavik. Fysioterapeuten 2022, nr.4, side 32-35
The Role of Nutrition and Physical Activity as Trigger Factors of Paralytic Attacks in Primary Periodic Paralysis. Welland NL, Hæstad H, Fossmo HL, Giltvedt K, Ørstavik K, Nordstrøm M. 2021;8(4):457-468. doi: 10.3233/JND-200604. PMID: 33646174; PMCID: PMC8385530.
The prevalence of hereditary neuromuscular disorders in Northern Norway. Müller KI, Ghelue MV, Lund I, Jonsrud C, Arntzen KA. Brain Behav. 2021 Jan;11(1):e01948. doi: 10.1002/brb3.1948. Epub 2020 Nov 13. PMID: 33185984; PMCID: PMC7821572.