Helle Høyer
Researcher
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Division of Medicine and Laboratory Sciences
Norwegian version of this page
Email
hellho@medisin.uio.no
Username
Visiting address
Sykehusveien 25
1474 Nordbyhagen
Postal address
Akershus universitetssykehus
1478 Lørenskog
Other affiliations
Centres directly under the University Board
(Student)
Publications
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Novy, Camilla; Busk, Øyvind; Tysnes, Ole-Bjørn; Landa, Sigve Strand; Aanjesen, Tori Navestad & Alstadhaug, Karl Bjørnar [Show all 29 contributors for this article] (2024). Repeat expansions in AR, ATXN1, ATXN2 and HTT in Norwegian patients diagnosed with amyotrophic lateral sclerosis. Brain Communications. ISSN 2632-1297. 6(2). doi: 10.1093/braincomms/fcae087.
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Olsen, Cathrine Goberg; Busk, Øyvind; Holla, Øystein Lunde; Tveten, Kristian; Holmøy, Trygve & Tysnes, Ole-Bjørn [Show all 7 contributors for this article] (2023). Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. ISSN 2167-8421. doi: 10.1080/21678421.2023.2270705. Full text in Research Archive Show summary
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Løseth, Sissel; Høyer, Helle; LE, KIM MAI; Delpire, Eric; Kinge, Einar & Lande, Asgeir [Show all 10 contributors for this article] (2022). Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype. Brain. ISSN 0006-8950. 146(3), p. 912–922. doi: 10.1093/brain/awac488. Full text in Research Archive Show summary
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Høyer, Helle; Busk, Øyvind Løvold; Esbensen, Qin Ying; Røsby, Oddveig; Hilmarsen, Hilde Tveitan & Russell, Michael Bjørn [Show all 9 contributors for this article] (2022). Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation. BMC Neurology. ISSN 1471-2377. 22(1). doi: 10.1186/s12883-022-02828-6. Full text in Research Archive Show summary
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Olsen, Cathrine Goberg; Busk, Øyvind Løvold; Aanjesen, Tori Navestad; Alstadhaug, Karl Bjørnar; Bjørnå, Ingrid Kristine & Braathen, Geir Julius [Show all 28 contributors for this article] (2022). Genetic Epidemiology of Amyotrophic lateral Sclerosis in Norway: A 2-Year Population-Based Study. Neuroepidemiology. ISSN 0251-5350. 56(4), p. 271–282. doi: 10.1159/000525091. Full text in Research Archive Show summary
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Høyer, Helle; Hilmarsen, Hilde T; Sunder-Plassmann, Raute; Braathen, Geir Julius; Andersen, Peter M. & Beetz, Christian [Show all 17 contributors for this article] (2022). A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon. Journal of Medical Genetics. ISSN 0022-2593. doi: 10.1136/jmedgenet-2021-108281.
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Kliest, Tessa; van Eijk, Ruben P. A.; Al-Chalabi, Ammar; Albanese, Alberto; Andersen, Peter M. & Amador, Maria Del Mar [Show all 57 contributors for this article] (2022). Clinical trials in pediatric ALS: a TRICALS feasibility study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. ISSN 2167-8421. 23(7-8), p. 481–488. doi: 10.1080/21678421.2021.2024856. Full text in Research Archive Show summary
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Høyer, Helle; Amor-Barris, Silvia; Brauteset, Lin; De Vriendt, Els; Strand, Linda & Jordanova, Albena [Show all 8 contributors for this article] (2021). HINT1 neuropathy in Norway: clinical, genetic and functional profiling. Orphanet Journal of Rare Diseases. ISSN 1750-1172. 16(1). doi: 10.1186/s13023-021-01746-z. Full text in Research Archive Show summary
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Senderek, Jan; Lassuthova, Petra; Kabzinska, Dagmara; Abreu, Lisa; Baets, Jonathan & Beetz, Christian [Show all 57 contributors for this article] (2020). The genetic landscape of axonal neuropathies in the middle-Aged and elderly: Focus on MME. Neurology. ISSN 0028-3878. 95(24). doi: 10.1212/WNL.0000000000011132.
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Fabrizi, Gian Maria; Høyer, Helle; Taioli, Federica; Cavallaro, Tiziana; Hilmarsen, Hilde T & Squintani, Giovanna Maddalena [Show all 8 contributors for this article] (2020). Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene. Neuromuscular Disorders. ISSN 0960-8966. 30(3), p. 227–231. doi: 10.1016/j.nmd.2019.12.007. Show summary
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Arntzen, Kjell Arne; Høyer, Helle; Ørstavik, Kristin; Tallaksen, Chantal; Vedeler, Christian A. & Østern, Rune André Helland [Show all 9 contributors for this article] (2018). Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence. Neuromuscular Disorders. ISSN 0960-8966. 28(8), p. 639–645. doi: 10.1016/j.nmd.2018.06.004.
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Holla, Øystein Lunde; Busk, Øyvind; Tveten, Kristian; Hilmarsen, Hilde T; Strand, Linda & Høyer, Helle [Show all 9 contributors for this article] (2015). Diagnostisk eksomsekvensering – norske erfaringer :. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 135(20), p. 1833–1837. doi: 10.4045/tidsskr.14.1442.
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Høyer, Helle; Busk, Øyvind; Holla, Øystein Lunde; Strand, Linda; Russell, Michael Bjørn & Skjelbred, Camilla Furu [Show all 7 contributors for this article] (2015). Arvelige perifere nevropatier diagnostisert ved dypsekvensering :. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 135(20), p. 1838–1843. doi: 10.4045/tidsskr.14.1002.
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Braathen, Geir Julius; Høyer, Helle; Busk, Øyvind; Tveten, Kristian; Skjelbred, Camilla Furu & Russell, Michael Bjørn (2015). Variants in the genes DCTN2, DNAH10,LRIG3, and MYO1A are associated with intermediate Charcot–Marie–Tooth disease in a Norwegian family. Acta Neurologica Scandinavica. ISSN 0001-6314. doi: 10.1111/ane.12515.
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Høyer, Helle; Braathen, Geir Julius; Eek, Anette Kildal; Namløs, Gry Beate; Skjelbred, Camilla Furu & Russell, Michael Bjørn (2015). Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease. BioMed Research International. ISSN 2314-6133. doi: 10.1155/2015/960404.
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Vogel, Lotte K.; Sæbø, Mona; Høyer, Helle; Kopp, Tine Iskov; Vogel, Ulla & Godiksen, Sine [Show all 12 contributors for this article] (2014). Intestinal PTGS2 mRNA Levels, PTGS2 Gene Polymorphisms, and Colorectal Carcinogenesis. PLOS ONE. ISSN 1932-6203. 9(8). doi: 10.1371/journal.pone.0105254.
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Høyer, Helle; Braathen, Geir Julius; Busk, Øyvind; Holla, Øystein Lunde; Svendsen, Marit & Hilmarsen, Hilde T [Show all 9 contributors for this article] (2014). Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. BioMed Research International. ISSN 2314-6133. 2014. doi: 10.1155/2014/210401.
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Høyer, Helle; Braathen, Geir Julius; Eek, Anette Kildal; Skjelbred, Camilla Furu & Russell, Michael Bjørn (2011). Charcot-Marie-Thooth caused by a copy number variation in myelin protein zero. European Journal of Medical Genetics. ISSN 1769-7212. 54, p. 580–583. doi: 10.1016/j.ejmg.2011.06.006.
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Braathen, Geir Julius; Sand, Jette Christensen; Lobato, Pascual Ana; Høyer, Helle & Russell, Michael Bjørn (2011). Genetic epidemiology of Charcot-Marie-Tooth in the general population. European Journal of Neurology. ISSN 1351-5101. 18(1), p. 39–48. doi: 10.1111/j.1468-1331.2010.03037.x.
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Braathen, Geir Julius; Sand, Jette Christensen; Lobato Pascual, Ana; Høyer, Helle & Russell, Michael Bjørn (2010). MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. BMC Medical Genetics. ISSN 1471-2350. 11(48). doi: 10.1186/1471-2350-11-48.
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Høyer, Helle; Nakken, Ola & Holmøy, Trygve (2023). A Novel SPAST Variant Associated with Isolated Spastic Paraplegia. Case Reports in Genetics. ISSN 2090-6552. doi: 10.1155/2023/4553365. Show summary
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Ali, Amanuel Hassen; Høyer, Helle; Rugland, Eyvind & Holmøy, Trygve (2022). A. H. Ali og medarbeidere svarer. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 142(13). doi: 10.4045/tidsskr.22.0560.
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Ali, Amanuel Hassen; Høyer, Helle; Rugland, Eyvind & Holmøy, Trygve (2022). En kvinne i 50-årene med økende gangvansker. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 142(11), p. 984–987. doi: 10.4045/tidsskr.21.0522.
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Glover, Joel; Tysnes, Ole-Bjørn; Myhr, Kjell-Morten; Bråthen, Geir; Sandvig, Ioanna & Høyer, Helle [Show all 9 contributors for this article] (2019). Hvor står ALS-forskningen i Norge? VG : Verdens gang. ISSN 0805-5203.
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Arntzen, Kjell Arne; Høyer, Helle; Ørstavik, Kristin; Tallaksen, Chantal; Vedeler, Christian A. & Østern, Rune André Helland [Show all 9 contributors for this article] (2018). Clinical characteristics, minimum prevalence and spectrum of SH3TC2 mutations in Norway.
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Høyer, Helle; Tveten, Kristian; Røsby, Oddveig; Hilmarsen, Hilde T; Busk, Øyvind & Svendsen, Marit [Show all 12 contributors for this article] (2018). A novel AARS variant identified in three CMT2 families.
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Høyer, Helle; Strand, Linda; Helås, Tormod; Holla, Øystein Lunde; Hilmarsen, Hilde T & Busk, Øyvind [Show all 9 contributors for this article] (2017). Late-onset polyneuropathy and MME variants – a Norwegian study.
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Arntzen, Kjell Arne; Høyer, Helle; Ingebrigtsen, Monica; Busk, Øyvind Løvold; Holla, Øystein Lunde & Tveten, Kristian [Show all 13 contributors for this article] (2016). Prevalence and spectrum of SH3TC2 mutations in Norway.
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Høyer, Helle; Braathen, Geir Julius; Busk, O.L.; Holla, OL; Strand, Linda & Skjelbred, Camilla Furu [Show all 7 contributors for this article] (2012). Charcot-Marie-Tooth families analysed with high-throughput sequencing. European Journal of Neurology. ISSN 1351-5101. 19, p. 734–734.
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Braathen, Geir Julius; Eek, Anette Kildal; Høyer, Helle; Bergsaker, D. K. & Russell, Michael Bjørn (2010). Syndromic Charcot-Marie-Tooth is easily neglected in ordinary diagnostics of Charcot-Marie-Tooth disease. European Journal of Neurology. ISSN 1351-5101. 17, p. 607–607.
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Høyer, Helle; Eek, A; Russell, Michael Bjørn & Braathen, Geir Julius (2010). Charcot-Marie-Tooth disease (CMT) caused by a novel copy-number variation (CNV) in the MPZ gene. European Journal of Neurology. ISSN 1351-5101. 17(supp. 3), p. 599–599.
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Høyer, Helle; Eek, A K; Russell, Michael Bjørn & Braathen, Geir Julius (2010). Charcot-Marie-Tooth disease (CMT) and novel mutations in Connexin 32 and LITAF. European Journal of Neurology. ISSN 1351-5101. 17, p. 608–608.
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Høyer, Helle; Russell, Michael Bjørn; Braathen, Geir Julius & Skjelbred, Camilla Furu (2015). Molecular diagnosis of Charcot-Marie-Tooth disease in Norway. Akademika forlag. ISSN 9788283330380.
Published
Apr. 9, 2024 12:51 PM
- Last modified
Apr. 9, 2024 12:51 PM