Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
LAINE, C. M, CHUNG, B. D, COLE, W. G, NETZER, C, MÄKITIE, O, SUSIC, M, PRESCOTT, T, SEMLER, O, FISKERSTRAND, T, D'EUFEMIA, P, CASTORI, M, PEKKINEN, M, SOCHETT, E
Published in European journal of human genetics : EJHG (01.08.2011)
Published in European journal of human genetics : EJHG (01.08.2011)
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Journal Article
A novel Refsum-like disorder that maps to chromosome 20
Fiskerstrand, T, Knappskog, P, Majewski, J, Wanders, R J, Boman, H, Bindoff, L A
Published in Neurology (06.01.2009)
Published in Neurology (06.01.2009)
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Journal Article
Homocysteine and other thiols in plasma and urine : automated determination and sample stability
FISKERSTRAND, T, REFSUM, H, KVALHEIM, G, UELAND, P. M
Published in Clinical chemistry (Baltimore, Md.) (01.02.1993)
Published in Clinical chemistry (Baltimore, Md.) (01.02.1993)
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Journal Article
A mother and daughter with unexplained renal failure
Christiansen, R E, Fiskerstrand, T, Leh, S, Haukanes, B I, Singh, A K, Fervenza, F C, Svarstad, E
Published in Nephron (01.01.2011)
Published in Nephron (01.01.2011)
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Journal Article
Three patients with osteoporosis-pseudoglioma syndrome (OPPG) due to novel splice site mutations in LRP5
Laine, C.M, Susic, M, Prescott, T.E, Netzer, C, Fiskerstrand, T, Chung, B, Cole, W.G, Sochett, E, Mäkitie, O
Published in BONE (2009)
Published in BONE (2009)
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Journal Article
Conference Proceeding
O.21 Genetic characterisation of PHARC – a novel syndrome resembling Refsum’s disease
Bindoff, L.A, Fiskerstrand, T, Brahim, D. H’mida-Ben, Johansson, S, M’zahem, A, Haukanes, B.I, Drouot, N, Zimmermann, J, Cole, A.J, Vedeler, C, Bredrup, C, Assoum, M, Tazir, M, Klockgether, T, Hamri, A, Steen, V.M, Boman, H, Koenig, M, Knappskog, P.M
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
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Journal Article
Assessment of homocysteine status
Refsum, H., Fiskerstrand, T., Guttormsen, A. B., Ueland, P. M.
Published in Journal of inherited metabolic disease (01.06.1997)
Published in Journal of inherited metabolic disease (01.06.1997)
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Conference Proceeding
Hyperhomocysteinemia in terms of steady-state kinetics
Refsum, H, Guttormsen, A B, Fiskerstrand, T, Ueland, P M
Published in European journal of pediatrics (01.04.1998)
Published in European journal of pediatrics (01.04.1998)
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Journal Article
Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism
Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.
Published in American journal of human genetics (10.09.2010)
Published in American journal of human genetics (10.09.2010)
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Journal Article
Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications
Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Brodtkorb, Eylert, Fiskerstrand, Torunn, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.
Published in Epilepsia (Copenhagen) (01.08.2018)
Published in Epilepsia (Copenhagen) (01.08.2018)
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Journal Article
Proliferation, migration and invasion of human glioma cells exposed to antifolate drugs
Terzis, A J, Fiskerstrand, T, Refsum, H, Ueland, P M, Arnold, H, Bjerkvig, R
Published in International journal of cancer (22.04.1993)
Published in International journal of cancer (22.04.1993)
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Journal Article
A Mother and Daughter with Unexplained Renal Failure
CHRISTIANSEN, R. E, FISKERSTRAND, T, LEH, S, HAUKANES, B. I, SINGH, A. K, FERVENZA, F. C, SVARSTAD, E
Published in Nephron (2015) (2011)
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Published in Nephron (2015) (2011)
Journal Article
P.P.4 09 Spectrum of mutations and prevalence of FKRP associated disease in Norway
Jonsrud, C., Lindal, S., Torbergsen, T., Stensland, E., Rasmussen, M., Borota, O., Skullerud, K., Bindoff, L.A., Fiskerstrand, T., Thyssen, F.M., Nilssen, Ø.
Published in Neuromuscular disorders : NMD (01.10.2006)
Published in Neuromuscular disorders : NMD (01.10.2006)
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Journal Article
Disruption of a Regulatory System Involving Cobalamin Distribution and Function in a Methionine-dependent Human Glioma Cell Line
Fiskerstrand, Torunn, Riedel, Bettina, Ueland, Per M., Seetharam, Bellur, Pezacka, Ewa H., Gulati, Sumedha, Bose, Santanu, Banerjee, Ruma, Berge, Rolf K., Refsum, Helga
Published in The Journal of biological chemistry (07.08.1998)
Published in The Journal of biological chemistry (07.08.1998)
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Journal Article
Redox status and protein binding of plasma aminothiols during the transient hyperhomocysteinemia that follows homocysteine administration
Mansoor, MA, Guttormsen, AB, Fiskerstrand, T, Refsum, H, Ueland, PM, Svardal, AM
Published in Clinical chemistry (Baltimore, Md.) (01.06.1993)
Published in Clinical chemistry (Baltimore, Md.) (01.06.1993)
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Conference Proceeding