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» Authors » Toril Fagerheim

Toril Fagerheim

Explore the profile of Toril Fagerheim including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 15
Citations 226
Followers 0
Related Specialties
Genetics
Neurology
General Medicine
Top 10 Co-Authors
Oivind Nilssen
Rune Ostern
Lisbeth Tranebjaerg
Elizabeth M Gillanders
Bjorn Nygard
Tanya M Teslovich
Helle Hoyer
Helene Hjellnes
Dietrich A Stephan
Erik Teig
Published In
BMC Med Genet
Eur J Hum Genet
Neuromuscul Disord
Hum Genet
Neurosurgery
Affiliations
Soon will be listed here.
Recent Articles
1.
Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype
Loseth S, Hoyer H, Le K, Delpire E, Kinge E, Lande A, et al.
Brain . 2022 Dec; 146(3):912-922. PMID: 36542484
We describe five families from different regions in Norway with a late-onset autosomal-dominant hereditary polyneuropathy sharing a heterozygous variant in the SLC12A6 gene. Mutations in the same gene have previously...
2.
Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway
Annexstad E, Fagerheim T, Holm I, Rasmussen M
J Neuromuscul Dis . 2019 Aug; 6(3):349-359. PMID: 31381525
Background: As new gene-related treatment options for Duchenne muscular dystrophy (DMD) are being developed, precise information about the patients' genetic diagnosis and knowledge about the diversities of natural history in...
3.
Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence
Arntzen K, Hoyer H, Orstavik K, Tallaksen C, Vedeler C, Ostern R, et al.
Neuromuscul Disord . 2018 Jul; 28(8):639-645. PMID: 30001926
Autosomal recessive Charcot-Marie-Tooth disease (CMT) is considered rare and phenotypic descriptions are scarce for the different subgroups. Mutations in the SH3TC2 gene, causing recessive demyelinating CMT type 4C have been...
4.
Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family
Jorgensen A, Fagerheim T, Rand-Hendriksen S, Lunde P, Vorren T, Pepin M, et al.
Eur J Hum Genet . 2014 Sep; 23(6):796-802. PMID: 25205403
Vascular Ehlers-Danlos Syndrome (vEDS), also known as EDS type IV, is considered to be an autosomal dominant disorder caused by sequence variants in COL3A1, which encodes the chains of type...
5.
Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations
Ostern R, Fagerheim T, Hjellnes H, Nygard B, Mellgren S, Nilssen O
BMC Med Genet . 2014 Jan; 15:12. PMID: 24444136
Background: The identification of disease causing, or putative disease causing, mutations in index patients with Charcot-Marie-Tooth disease (CMT) allows for genetic testing of family members. Relevant variants identified in index...
6.
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
Ostern R, Fagerheim T, Hjellnes H, Nygard B, Mellgren S, Nilssen O
BMC Med Genet . 2013 Sep; 14:94. PMID: 24053775
Background: Current genetic test algorithms for Charcot Marie Tooth (CMT) disease are based on family details and comprehensive clinical and neurophysiological data gathered under ideal conditions for clinical assessment. However,...
7.
Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene
Ostern R, Fagerheim T, Orstavik K, Holmoy T, Heiberg A, Lund-Petersen I, et al.
Neuromuscul Disord . 2012 Apr; 22(6):511-21. PMID: 22475618
Mutant genes associated with Charcot Marie Tooth type 2, distal hereditary motor neuropathy and familial amyotrophic lateral sclerosis may cause overlapping clinical phenotypes. We performed whole genome linkage analysis, haplotype...
8.
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction
Alhamidi M, Buvang E, Fagerheim T, Brox V, Lindal S, Van Ghelue M, et al.
PLoS One . 2011 Sep; 6(8):e22968. PMID: 21886772
Limb-Girdle Muscular Dystrophy type 2I (LGMD2I) is an inheritable autosomal, recessive disorder caused by mutations in the FuKutin-Related Protein (FKRP) gene (FKRP) located on chromosome 19 (19q13.3). Mutations in FKRP...
9.
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment
Rendtorff N, Lodahl M, Boulahbel H, Johansen I, Pandya A, Welch K, et al.
Am J Med Genet A . 2011 May; 155A(6):1298-313. PMID: 21538838
Optic atrophy (OA) and sensorineural hearing loss (SNHL) are key abnormalities in several syndromes, including the recessively inherited Wolfram syndrome, caused by mutations in WFS1. In contrast, the association of...
10.
Causes of hearing impairment in the Norwegian paediatric cochlear implant program
Siem G, Fagerheim T, Jonsrud C, Laurent C, Teig E, Harris S, et al.
Int J Audiol . 2010 Jun; 49(8):596-605. PMID: 20553101
Severe to profound hearing impairment (HI) is estimated to affect around 1/2000 young children. Advances in genetics have made it possible to identify several genes related to HI. This information...