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STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S. Heimdal K, et al. Among authors: haukanes bi. Orphanet J Rare Dis. 2014 Sep 26;9:146. doi: 10.1186/s13023-014-0146-0. Orphanet J Rare Dis. 2014. PMID: 25258038 Free PMC article.
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM. Fiskerstrand T, et al. Among authors: haukanes bi. Am J Hum Genet. 2010 Sep 10;87(3):410-7. doi: 10.1016/j.ajhg.2010.08.002. Am J Hum Genet. 2010. PMID: 20797687 Free PMC article.
Familial diarrhea syndrome caused by an activating GUCY2C mutation.
Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Håvik B, Tønder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM. Fiskerstrand T, et al. Among authors: haukanes bi. N Engl J Med. 2012 Apr 26;366(17):1586-95. doi: 10.1056/NEJMoa1110132. Epub 2012 Mar 21. N Engl J Med. 2012. PMID: 22436048 Free article.
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. Among authors: haukanes bi. PLoS One. 2017 Jan 4;12(1):e0169309. doi: 10.1371/journal.pone.0169309. eCollection 2017. PLoS One. 2017. PMID: 28052128 Free PMC article.
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
Bassi N, Hovland HN, Rasheed K, Jarhelle E, Pedersen N, Mchaina EK, Bakkan SME, Iversen N, Høberg-Vetti H, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E, Van Ghelue M. Bassi N, et al. Among authors: haukanes bi. BMC Cancer. 2023 Apr 21;23(1):368. doi: 10.1186/s12885-023-10790-w. BMC Cancer. 2023. PMID: 37085799 Free PMC article.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Among authors: haukanes bi. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
43 results