Publications by authors named "Toril Fagerheim"

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Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.
Sissel Løseth, Helle Høyer, Kim-Mai Le, Eric Delpire, Einar Kinge, Toril Fagerheim

Brain· March 2023

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Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway.
Ellen Johanne Annexstad, Toril Fagerheim, Inger Holm, Magnhild Rasmussen

J Neuromuscul Dis· February 2020

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Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence.
Kjell Arne Arntzen, Helle Høyer, Kristin Ørstavik, Chantal Tallaksen, Christian Vedeler, Toril Fagerheim

Neuromuscul Disord· August 2018

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Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.
Agnete Jørgensen, Toril Fagerheim, Svend Rand-Hendriksen, Per I Lunde, Torgrim O Vorren

Eur J Hum Genet· June 2015

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Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.
Rune Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein Ivar Mellgren

BMC Med Genet· January 2014

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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.
Rune Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein I Mellgren

BMC Med Genet· September 2013

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Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.
Rune Østern, Toril Fagerheim, Kristin Ørstavik, Trygve Holmøy, Arvid Heiberg

Neuromuscul Disord· June 2012

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Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction.
Maisoon Alhamidi, Elisabeth Kjeldsen Buvang, Toril Fagerheim, Vigdis Brox, Sigurd Lindal

PLoS One· January 2012

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Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Nanna D Rendtorff, Marianne Lodahl, Houda Boulahbel, Ida R Johansen, Arti Pandya, Toril Fagerheim

Am J Med Genet A· June 2011

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Causes of hearing impairment in the Norwegian paediatric cochlear implant program.
Geir Siem, Toril Fagerheim, Christoffer Jonsrud, Claude Laurent, Erik Teig

Int J Audiol· August 2010

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Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density.
Margarethe Biong, Inger T Gram, Ilene Brill, Fredrik Johansen, Hiroko K Solvang, Toril Fagerheim

BMC Med Genomics· March 2010

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Prediction of time trends in recovery of cognitive function after mild head injury.
Kay Müller, Tor Ingebrigtsen, Tom Wilsgaard, Gry Wikran, Toril Fagerheim

Neurosurgery· April 2009

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Human cytomegalovirus (HCMV) and hearing impairment: infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 -- both involved in dominantly inherited, sensorineural, hearing impairment.
Mona Nystad, Toril Fagerheim, Vigdis Brox, Elizabeth A Fortunato, Øivind Nilssen

Mutat Res· January 2008

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A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
Nanna D Rendtorff, Mei Zhu, Toril Fagerheim, Torben L Antal, MaryPat Jones

Eur J Hum Genet· October 2006

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Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13.
Lisbeth Tranebjaerg, Tanya M Teslovich, MaryPat Jones, M Michael Barmada, Toril Fagerheim

Hum Genet· August 2003

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