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Scopus Author ID: 35976246500

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Works (14)

A Novel SPAST Variant Associated with Isolated Spastic Paraplegia

Case Reports in Genetics
2023-12-31 | Journal article
DOI: 10.1155/2023/4553365
Contributors: Helle Høyer; Ola Nakken; Trygve Holmøy; Balraj Mittal
Source: check_circle
Crossref

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

Journal of Medical Genetics
2022-10 | Journal article
DOI: 10.1136/jmedgenet-2021-108281
Contributors: Helle Høyer; Hilde T Hilmarsen; Raute Sunder-Plassmann; Geir J Braathen; Peter M Andersen; Christian Beetz; Sandra Hacker; Øystein L Holla; Ingo Kurth; Wolfgang N Löscher et al.
Source: check_circle
Crossref

HINT1 neuropathy in Norway: clinical, genetic and functional profiling

Orphanet Journal of Rare Diseases
2021-12 | Journal article
DOI: 10.1186/s13023-021-01746-z
Contributors: Silvia Amor-Barris; Helle Høyer; Lin V. Brauteset; Els De Vriendt; Linda Strand; Albena Jordanova; Geir J. Braathen; Kristien Peeters
Source: check_circle
Crossref

Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene

Neuromuscular Disorders
2020 | Journal article
DOI: 10.1016/j.nmd.2019.12.007
EID:

2-s2.0-85079760526

Part of ISBN:

18732364 09608966
Contributors: Fabrizi, G.M.; Høyer, H.; Taioli, F.; Cavallaro, T.; Hilmarsen, H.T.; Squintani, G.M.; Zanette, G.; Braathen, G.J.
Source: Self-asserted source
Helle Høyer via Scopus - Elsevier

Charcot–Marie–Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence

Neuromuscular Disorders
2018 | Journal article
DOI: 10.1016/j.nmd.2018.06.004
EID:

2-s2.0-85049914309

Part of ISBN:

18732364 09608966
Contributors: Arntzen, K.A.; Høyer, H.; Ørstavik, K.; Tallaksen, C.; Vedeler, C.; Østern, R.; Nebuchennykh, M.; Braathen, G.J.; Fagerheim, T.
Source: Self-asserted source
Helle Høyer via Scopus - Elsevier
grade
Preferred source (of 2)‎

Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family

Acta Neurologica Scandinavica
2016 | Journal article
DOI: 10.1111/ane.12515
EID:

2-s2.0-84944088814

Part of ISBN:

16000404 00016314
Contributors: Braathen, G.J.; Høyer, H.; Busk, Ø. L.; Tveten, K.; Skjelbred, C.F.; Russell, M.B.
Source: Self-asserted source
Helle Høyer via Scopus - Elsevier

Clinical exome sequencing - Norwegian findings,Diagnostisk eksomsekvensering - Norske erfaringer

Tidsskrift for den Norske Laegeforening
2015 | Journal article
EID:

2-s2.0-84946065575

Part of ISBN:

08077096 00292001
Contributors: Holla, Ø.L.; Busk, Ø.L.; Tveten, K.; Hilmarsen, H.T.; Strand, L.; Høyer, H.; Bakken, A.; Skjelbred, C.F.; Braathen, G.J.
Source: Self-asserted source
Helle Høyer via Scopus - Elsevier

Copy number variations in a population-based study of Charcot-Marie-Tooth disease

BioMed Research International
2015 | Journal article
DOI: 10.1155/2015/960404
EID:

2-s2.0-84921416860

Part of ISBN:

23146141 23146133
Contributors: Høyer, H.; Braathen, G.J.; Eek, A.K.; Nordang, G.B.N.; Skjelbred, C.F.; Russell, M.B.
Source: Self-asserted source
Helle Høyer via Scopus - Elsevier

Hereditary peripheral neuropathies diagnosed by next-generation sequencing,Arvelige perifere nevropatier diagnostisert ved dypsekvensering

Tidsskrift for den Norske Laegeforening
2015 | Journal article
EID:

2-s2.0-84946079617

Part of ISBN:

08077096 00292001
Contributors: Høyer, H.; Busk, O.L.; Holla, O.L.; Strand, L.; Russell, M.B.; Skjelbred, C.F.; Braathen, G.J.
Source: Self-asserted source
Helle Høyer via Scopus - Elsevier

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing

BioMed Research International
2014 | Journal article
DOI: 10.1155/2014/210401
EID:

2-s2.0-84904121526

Part of ISBN:

23146141 23146133
Contributors: Høyer, H.; Braathen, G.J.; Busk, Ø.L.; Holla, Ø.L.; Svendsen, M.; Hilmarsen, H.T.; Strand, L.; Skjelbred, C.F.; Russell, M.B.
Source: Self-asserted source
Helle Høyer via Scopus - Elsevier

Intestinal PTGS2 mRNA levels, PTGS2 gene polymorphisms, and colorectal carcinogenesis

PLoS ONE
2014 | Journal article
DOI: 10.1371/journal.pone.0105254
EID:

2-s2.0-84919888555

Part of ISBN:

19326203
Contributors: Vogel, L.K.; Sæbø, M.; Høyer, H.; Kopp, T.I.; Vogel, U.; Godiksen, S.; Frenzel, F.B.; Hamfjord, J.; Bowitz-Lothe, I.M.; Johnson, E. et al.
Source: Self-asserted source
Helle Høyer via Scopus - Elsevier

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero

European Journal of Medical Genetics
2011 | Journal article
DOI: 10.1016/j.ejmg.2011.06.006
EID:

2-s2.0-80052284737

Part of ISBN:

17697212 18780849
Contributors: Høyer, H.; Braathen, G.J.; Eek, A.K.; Skjelbred, C.F.; Russell, M.B.
Source: Self-asserted source
Helle Høyer via Scopus - Elsevier

Genetic epidemiology of Charcot-Marie-Tooth in the general population

European Journal of Neurology
2011 | Journal article
DOI: 10.1111/j.1468-1331.2010.03037.x
EID:

2-s2.0-78650079774

Part of ISBN:

13515101 14681331
Contributors: Braathen, G.J.; Sand, J.C.; Lobato, A.; Høyer, H.; Russell, M.B.
Source: Self-asserted source
Helle Høyer via Scopus - Elsevier

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families

BMC Medical Genetics
2010 | Journal article
DOI: 10.1186/1471-2350-11-48
EID:

2-s2.0-77951641282

Part of ISBN:

14712350
Contributors: Braathen, G.J.; Sand, J.C.; Lobato, A.; Høyer, H.; Russell, M.B.
Source: Self-asserted source
Helle Høyer via Scopus - Elsevier

Peer review (4 reviews for 3 publications/grants)

Review activity for BMC neurology (1)
Review activity for Journal of neurology, neurosurgery and psychiatry (2)
Review activity for Molecular syndromology (1)
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