Stephanie Efthymiou,
Marcello Scala,
Vini Nagaraj,
Katarzyna Ochenkowska,
Fenne L Komdeur,
Robin Amanda Liang
m.fl.:
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Henrikke Nilsen Hovland,
Eunice Kabanyana Mchaina,
Hildegunn Høberg Vetti,
Sarah Louise Ariansen,
Wenche Sjursen,
Marijke Van Ghelue
m.fl.:
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions
Nicola Bassi,
Henrikke Hovland,
Kashif Rasheed,
Elisabeth Jarhelle,
Nikara Pedersen,
Eunice Kabanyana Mchaina
m.fl.:
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays
Henrikke Nilsen Hovland,
Rafal Isam Fatoohi Al-Adhami,
Sarah Louise Ariansen,
Marijke Van Ghelue,
Wenche Sjursen,
Sigrid Lima Anfinsen
m.fl.:
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories
Familial Cancer 04. januar 2022
ARKIV /
DOI
Synnøve Jensen,
Kai Ivar Müller,
Svein Ivar Mellgren,
Laurence Albert Bindoff,
Magnhild Rasmussen,
Kristin Ørstavik
m.fl.:
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
Neuromuscular Disorders 25. november 2022
ARKIV /
DOI
Carla Prezioso,
Marijke Van Ghelue,
Valeria Pietropaolo,
Ugo Moens
:
Detection of quebec polyomavirus dna in samples from different patient groups
Kai Ivar Müller,
Øivind Nilssen,
Maria Nebuchenykh,
Sissel Løseth,
Christoffer Jonsrud,
Gry Hoem
m.fl.:
Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene
Neuromuscular Disorders 19. november 2021
ARKIV /
DOI
Carla Prezioso,
Marijke Van Ghelue,
Ugo Moens,
Valeria Pietropaolo
:
HPyV6 and HPyV7 in urine from immunocompromised patients
Kai Ivar Müller,
Marijke Van Ghelue,
Irene Lund,
Christoffer Jonsrud,
Kjell Arne Arntzen
:
The prevalence of hereditary neuromuscular disorders in Northern Norway
Brain and Behavior 13. november 2020
ARKIV /
DOI
Darine Villela,
Huiwen Che,
Marijke Van Ghelue,
Luc Dehaspe,
Nathalie Brison,
Kris Van Den Bogaert
m.fl.:
Fetal sex determination in twin pregnancies using non-invasive prenatal testing
Marie Falkenberg Smeland,
Conor McClenaghan,
Helen I. Roessler,
Sanne Savelberg,
Geir Åsmund Myge Hansen,
Helene Hjellnes
m.fl.:
ABCC9-related intellectual disability myopathy syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
Elisabeth Jarhelle,
Hilde Monica Frostad Riise Stensland,
Geir Åsmund Myge Hansen,
Siri Hermansen Skarsfjord,
Christoffer Jonsrud,
Monica Ingebrigtsen
m.fl.:
Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients
Jonas Langerud,
Elisabeth Jarhelle,
Marijke Van Ghelue,
Sarah Louise Ariansen,
Nina Iversen
:
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
Ugo Moens,
Xiaobo Song,
Marijke Van Ghelue,
John A. Lednicky,
Bernhard Ehlers
:
A role of Sp1 binding motifs in basal and large T-Antigen-induced promoter activities of human polyomavirus HPyV9 and its variant UF-1
International Journal of Molecular Sciences 2017
ARKIV /
DOI
Elisabeth Jarhelle,
Hilde Monica Frostad Riise Stensland,
Lovise Olaug Mæhle,
Marijke Van Ghelue
:
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort
John Vissing,
Rita Barresi,
Nanna Witting,
Marijke Van Ghelue,
Lise Gammelgaard,
Laurence Bindoff
m.fl.:
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy
Xiaobo Song,
Marijke Van Ghelue,
Maria A. Ludvigsen,
Svein Arne Nordbø,
Bernhard Ehlers,
Ugo Moens
:
Characterization of the non-coding control region of polyomavirus KI isolated from nasopharyngeal samples from patients with respiratory symptoms or infection and from blood from healthy blood donors in Norway
Journal of General Virology 2016
ARKIV /
DOI
Ugo Moens,
Marijke Van Ghelue,
Maria A. Ludvigsen,
Sarah Korup-Schulz,
Bernhard Ehlers
:
Early and late promoters of BK polyomavirus, merkel cell polyomavirus, trichodysplasia spinulosa-associated polyomavirus and human polyomavirus 12 are among the strongest of all known human polyomaviruses in 10 different cell lines
Journal of General Virology 2015
DOI
Ugo Moens,
Marijke Van Ghelue,
Bernhard Ehlers
:
Are human polyomaviruses co-factors for cancers induced by other oncoviruses?
Reviews in Medical Virology 2014
DOI
Sophie Nicole,
Amina Chaouch,
Torberg Torbergsen,
Stéphanie Bauché,
Elodie De Bruyckere,
Marie-Joséphine Fontenille
m.fl.:
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy
Ugo Moens,
Marijke Van Ghelue,
Xiaobo Song,
Bernhard Ehlers
:
Serological cross-reactivity between human polyomaviruses
Reviews in Medical Virology 2013
DOI
Ana Bárcena-Panero,
Juan Echevarria,
Marijke Van Ghelue,
Giovanni Fedele,
Enrique Royuela,
Nancy Gerits
m.fl.:
BK polyomavirus with archetypal and rearranged non-coding control regions is present in cerebrospinal fluids from patients with neurological complications
Gro Østli Eilertsen,
Marijke Van Ghelue,
Johannes C Nossent
:
BAFF expression is increased in Lupus Nephritis and associated with activation of C1 inhibitor, α-1-acid-glycoprotein and endothelial markers
Ana Bárcena-Panero,
Marijke Van Ghelue,
Mahmud Tareq Hassan Khan,
Juan E. Echevarria,
Giovanni Fedele,
Ugo Moens
:
BK Virus-Associated Infection in Cerebrospinal Fluid of Neurological Patients and Mutation Analysis of the Complete VP1 Gene in Different Patient Groups
Marijke Van Ghelue,
Mahmud Tareq Hassan Khan,
Bernhard Ehlers,
Ugo Moens
:
Genome analysis of the new human polyomaviruses
Reviews in Medical Virology 2012
DOI
Gro Østli Eilertsen,
Marijke Van Ghelue,
Harald Strand,
Johannes C Nossent
:
Increased levels of BAFF in patients with systemic lupus erythematosus are associated with acute-phase reactants, independent of BAFF genetics: a case-control study
Marijke Van Ghelue,
Ugo Moens
:
Merkel cell polyomavirus: A causal factor in Merkel cell carcinoma
Chen Sun,
Marijke Van Ghelue,
Lisbeth Tranebjærg,
Frances Thyssen,
Øivind Nilssen,
Torberg Torbergsen
:
Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene
Clinical Genetics 2011
DOI
Maisoon Alhamidi,
Elisabeth Kjeldsen ,
Toril Fagerheim,
Vigdis Brox,
Sigurd Lindal,
Marijke Van Ghelue
m.fl.:
Fukutin-Related Protein Resides in the Golgi Cisternae of Skeletal Muscle Fibres and Forms Disulfide-Linked Homodimers via an N-Terminal Interaction
Tine Levin Bodd,
Marijke Van Ghelue,
Kristin Louise Eiklid,
Ellen Birgitte Ruud,
Pål Møller,
Lovise Olaug Mæhle
:
Fanconi anaemia, BRCA2 and familial considerations - follow up on a previous case report
Acta Paediatrica 2010
DOI
Kristin Ørstavik,
Kjell Arne Arntzen,
Per Mathisen,
Paul Hoff Backe,
Trine Tangeraas,
Magnhild Rasmussen
m.fl.:
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
Kai Ivar Müller,
Marijke Van Ghelue,
Christoffer Jonsrud,
Kjell Arne Arntzen
:
The prevalence of inherited neuromuscular disorders in Northern Norway.
2020
Xiaobo Song,
Marijke Van Ghelue,
Maria A. Ludvigsen,
Svein Arne Nordbø,
Bernhard Ehlers,
Ugo Moens
:
Characterization of the non-coding control region of polyomavirus KI isolated from nasopharyngeal samples from patients with respiratory symptoms or infection and blood from healthy blood donors in Norway
2014
Ugo Moens,
Ana Bárcena-Panero,
Marijke Van Ghelue,
Juan E. Echevarra,
Giovanni Fedele,
Mahmud Tareq Hassan Khan
m.fl.:
BK polyomavirus: a neurotropic virus?
Journal of Neurovirology 2013
Gro Østli Eilertsen,
Marijke Van Ghelue,
Harald Strand,
Johannes C Nossent
:
INCREASED LEVELS OF BAFF IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS MIRROR ACUTE PHASE REACTANTS AND ARE INDEPENDENT OF BAFF PROMOTER GENOTYPE OR EXPRESSION IN PERIPHERAL BLOOD CELLS
Internal Medicine Journal 2011
Maisoon Alhamidi,
Elisabeth Kjeldsen ,
Toril Fagerheim,
Vigdis Brox,
Sigurd Lindal,
Marijke Van Ghelue
m.fl.:
Fukutin-related protein resides in the Golgi cisternae of human skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction interface
Neuromuscular Disorders 2011
DOI
Gro Østli Eilertsen,
Marijke Van Ghelue,
Harald Strand,
Johannes C Nossent
:
CIRCULATING B-CELL ACTIVATING FACTOR IN PATIENTS WITH SLE CORRELATES WITH MARKERS OF INFLAMMATION BUT NOT WITH POLYMORPHISMS IN THE 5 ' REGULATORY REGION OF THE BAFF GENE OR MRNA EXPRESSION
Scandinavian Journal of Rheumatology. Supplement 2010
Gro Østli Eilertsen,
Marijke Van Ghelue,
Harald Strand,
Johannes C Nossent
:
B-cell activating factor levels correlate with acute phase reactants, but not with BAFF gene polymorphisms or BAFF gene expression in blood mononuclear cells in patients with Systemic Lupus Erythematosus: a case control study
2010