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Clinical features of LRRK2 parkinsonism.
Haugarvoll K, Wszolek ZK. Haugarvoll K, et al. Parkinsonism Relat Disord. 2009 Dec;15 Suppl 3:S205-8. doi: 10.1016/S1353-8020(09)70815-6. Parkinsonism Relat Disord. 2009. PMID: 20082991 Review.
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.
Flønes I, Sztromwasser P, Haugarvoll K, Dölle C, Lykouri M, Schwarzlmüller T, Jonassen I, Miletic H, Johansson S, Knappskog PM, Bindoff LA, Tzoulis C. Flønes I, et al. PLoS One. 2016 Feb 10;11(2):e0149055. doi: 10.1371/journal.pone.0149055. eCollection 2016. PLoS One. 2016. PMID: 26863430 Free PMC article.
HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia.
Tzoulis C, Zayats T, Knappskog PM, Müller B, Larsen JP, Tysnes OB, Bindoff LA, Johansson S, Haugarvoll K. Tzoulis C, et al. Proc Natl Acad Sci U S A. 2015 May 5;112(18):E2268. doi: 10.1073/pnas.1503105112. Epub 2015 Mar 30. Proc Natl Acad Sci U S A. 2015. PMID: 25825781 Free PMC article. No abstract available.
Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population.
Balafkan N, Tzoulis C, Müller B, Haugarvoll K, Tysnes OB, Larsen JP, Bindoff LA. Balafkan N, et al. Mitochondrion. 2012 Nov;12(6):640-3. doi: 10.1016/j.mito.2012.08.004. Epub 2012 Aug 29. Mitochondrion. 2012. PMID: 22963882
Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway.
Haugarvoll K, Toft M, Ross OA, White LR, Aasly JO, Farrer MJ. Haugarvoll K, et al. Neurosci Lett. 2007 Apr 18;416(3):299-301. doi: 10.1016/j.neulet.2007.02.020. Epub 2007 Feb 12. Neurosci Lett. 2007. PMID: 17324517
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.
Haugarvoll K, Johansson S, Rodriguez CE, Boman H, Haukanes BI, Bruland O, Roque F, Jonassen I, Blomqvist M, Telstad W, Månsson JE, Knappskog PM, Bindoff LA. Haugarvoll K, et al. PLoS One. 2017 Jan 4;12(1):e0169309. doi: 10.1371/journal.pone.0169309. eCollection 2017. PLoS One. 2017. PMID: 28052128 Free PMC article.
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG, Sewell WA, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S, Knappskog PM, Løvås K, Wolff AS, Abramson J, Husebye ES. Oftedal BE, et al. Immunity. 2015 Jun 16;42(6):1185-96. doi: 10.1016/j.immuni.2015.04.021. Immunity. 2015. PMID: 26084028
Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis.
Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A, Myhr KM, Haugarvoll K, Zetterberg H, Harbo H, Kockum I, Hillert J, Wszolek Z, Rademakers R, Andersen O. Sundal C, et al. Eur J Neurol. 2015 Feb;22(2):328-333. doi: 10.1111/ene.12572. Epub 2014 Oct 13. Eur J Neurol. 2015. PMID: 25311247 Free PMC article.
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.
Haugarvoll K, Tzoulis C, Tran GT, Karlsen B, Engelsen BA, Knappskog PM, Bindoff LA. Haugarvoll K, et al. J Neurol. 2014 Feb;261(2):358-62. doi: 10.1007/s00415-013-7203-9. Epub 2013 Dec 3. J Neurol. 2014. PMID: 24297365
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