Blar i forfatter "Fagerheim, Toril"
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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.
Østern, Rune André Helland; Fagerheim, Toril; Hjellnes, Helene; Nygård, Bjørn; Mellgren, Svein Ivar; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2013)The importance of diagnosing and treating co-occurring psychiatric disorders among substance abusers in treatment has received much attention. The aim of this study was to investigate to which extent co-occurring psychiatric disorders are diagnosed in a clinical population of substance abusers, and which factors (including the use of MINI-Plus) that influence the diagnosing of co-occurring psychiatric ... -
Fukutin-Related Protein Resides in the Golgi Cisternae of Skeletal Muscle Fibres and Forms Disulfide-Linked Homodimers via an N-Terminal Interaction
Alhamidi, Maisoon; Kjeldsen, Elisabeth; Fagerheim, Toril; Brox, Vigdis; Lindal, Sigurd; Van Ghelue, Marijke; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2011)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 are also associated with Congenital Muscular Dystrophy (MDC1C), Walker-Warburg Syndrome (WWS) and Muscle Eye Brain disease (MEB). These four disorders share in common an incomplete/aberrant ... -
Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density
Gram, Inger Torhild; Biong, M; Brill, I; Bremnes, Yngve; Johansen, F; Solvang, Hiroko Kato; Alnaes, GIG; Fagerheim, Toril; Chanock, Stephen; Burdett, L; Yeager, M; Ursin, Giske; Kristensen, Vessela N. (Journal article; Tidsskriftartikkel; Peer reviewed, 2010) -
Late onset sensory-motor axonal neuropathy, a novel SLC12A6 related phenotype
Løseth, Sissel; Høyer, Helle; Delpire, Eric; Kinge, Einar; Lande, Asgeir; Hilmarsen, Hilde Tveitan; Fagerheim, Toril; Nilssen, Øivind; Braathen, Geir Julius; Le, Kim-Mai (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-12-21)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 been described in infants with autosomal recessive hereditary motor and sensory neuropathy with corpus callosum agenesis and mental retardation (Andermann syndrome), and in a few ... -
Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations
Østern, Rune André Helland; Fagerheim, Toril; Hjellnes, Helene; Nygård, Bjørn; Mellgren, Svein Ivar; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2014)