Blar i forfatter Det helsevitenskapelige fakultet "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) -
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)