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The prevalence of hereditary neuromuscular disorders in Northern Norway

Brain and behavior, 2021-01, Vol.11 (1), p.e01948-n/a

2021

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Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays

BMC cancer, 2023-04, Vol.23 (1), p.368-368, Article 368

2023

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HPyV6 and HPyV7 in urine from immunocompromised patients

Virology journal, 2021-01, Vol.18 (1), p.24-24, Article 24

2021

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Are human polyomaviruses co-factors for cancers induced by other oncoviruses?

Reviews in medical virology, 2014-09, Vol.24 (5), p.343-360

2014

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ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Nature communications, 2019-10, Vol.10 (1), p.1-19, Article 4457

2019

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Serological cross-reactivity between human polyomaviruses

Reviews in medical virology, 2013-07, Vol.23 (4), p.250-264

2013

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Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients

Scientific reports, 2019-12, Vol.9 (1), p.19986-12, Article 19986

2019

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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, 2015-08, Vol.96 (8), p.2293-2303

2015

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Detection of Quebec Polyomavirus DNA in Samples from Different Patient Groups

Microorganisms (Basel), 2021-05, Vol.9 (5), p.1082

2021

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Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions

Genes, 2023-01, Vol.14 (2), p.262

2023

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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, 2017-11, Vol.18 (11), p.2414

2017

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Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance

Human genomics, 2018-11, Vol.12 (1), p.51-51, Article 51

2018

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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

PloS one, 2011-08, Vol.6 (8), p.e22968-e22968

2011

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Fetal sex determination in twin pregnancies using non-invasive prenatal testing

Npj genomic medicine, 2019-07, Vol.4 (1), p.15-6, Article 15

2019

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Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency

JIMD reports, 2022-05, Vol.63 (3), p.193-198

2022

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A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome

European journal of human genetics : EJHG, 2000-06, Vol.8 (6), p.464-467

2000

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Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

European journal of human genetics : EJHG, 2001-12, Vol.9 (12), p.903-909

2001

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High Risk for Ovarian Cancer in a Prospective Series Is Restricted to BRCA1/2 Mutation Carriers

Clinical cancer research, 2008-11, Vol.14 (22), p.7569-7573

2008

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Autoimmunity to nucleosomes related to viral infection: a focus on hapten-carrier complex formation

Journal of autoimmunity, 2003-03, Vol.20 (2), p.171-182

2003

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A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

Brain (London, England : 1878), 2016-08, Vol.139 (Pt 8), p.2154-2163

2016

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Human Polyomaviruses in Skin Diseases

Pathology Research International, 2011-01, Vol.2011 (2011), p.26-37

2011

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BK and JC Viruses in Patients with Systemic Lupus Erythematosus: Prevalent and Persistent BK Viruria, Sequence Stability of the Viral Regulatory Regions, and Nondetectable Viremia

The Journal of infectious diseases, 1999-07, Vol.180 (1), p.1-9

1999

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Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene

Neuromuscular disorders : NMD, 2022-01, Vol.32 (1), p.75-79

2022

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Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Brain (London, England : 1878), 2024-05, Vol.147 (5), p.1822-1836

2024

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Genome analysis of the new human polyomaviruses

Reviews in medical virology, 2012-11, Vol.22 (6), p.354-377

2012

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The prevalence of hereditary neuromuscular disorders in Northern Norway

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays

HPyV6 and HPyV7 in urine from immunocompromised patients

Are human polyomaviruses co-factors for cancers induced by other oncoviruses?

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

Serological cross-reactivity between human polyomaviruses

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients

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

Detection of Quebec Polyomavirus DNA in Samples from Different Patient Groups

Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions

A Role of Sp1 Binding Motifs in Basal and Large T-Antigen-Induced Promoter Activities of Human Polyomavirus HPyV9 and Its Variant UF-1

Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance

Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction

Fetal sex determination in twin pregnancies using non-invasive prenatal testing

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

High Risk for Ovarian Cancer in a Prospective Series Is Restricted to BRCA1/2 Mutation Carriers

Autoimmunity to nucleosomes related to viral infection: a focus on hapten-carrier complex formation

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

Human Polyomaviruses in Skin Diseases

BK and JC Viruses in Patients with Systemic Lupus Erythematosus: Prevalent and Persistent BK Viruria, Sequence Stability of the Viral Regulatory Regions, and Nondetectable Viremia

Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Genome analysis of the new human polyomaviruses

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