Ø. Nilssen

发表

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

F. Thyssen, M. Van Ghelue, C. Sun, 2011, Clinical genetics.

T. Fagerheim, M. Van Ghelue, S. Lindal, 2011, PloS one.

Protein homeostasis in LGMDR9 (LGMD2I) – The role of ubiquitin–proteasome and autophagy–lysosomal system

G. Leivseth, Ø. Nilssen, V. Franekova, 2020, Neuropathology and applied neurobiology.

Comparative sequence analysis of A-type inclusion (ATI) and P4c proteins of orthopoxviruses that produce typical and atypical ATI phenotypes

Terje Traavik, O. A. Adekoya, U. Moens, 2009, Virus Genes.

Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.

P. Heikinheimo, Lam Van Nguyen, Ø. Nilssen, 2011, Human molecular genetics.

Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants.

P. Heikinheimo, G. Evjen, O. Tollersrud, 2004, The Biochemical journal.

In vitro host range, multiplication and virion forms of recombinant viruses obtained from co-infection in vitro with a vaccinia-vectored influenza vaccine and a naturally occurring cowpox virus isolate

U. Moens, T. Traavik, M. Tryland, 2009, Virology Journal.

Short Communication Modified vaccinia virus Ankara multiplies in rat IEC-6 cells and limited production of mature virions occurs in other mammalian cell lines

T. Traavik, Ø. Nilssen, M. I. Okeke, 2006 .

Morphogenesis of fowlpox virus in a baby hamster kidney cell line

T. Traavik, S. Weli, Ø. Nilssen, 2004, Medical Electron Microscopy.

Human cytomegalovirus (HCMV) and hearing impairment: infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 -- both involved in dominantly inherited, sensorineural, hearing impairment.

T. Fagerheim, E. Fortunato, V. Brox, 2008, Mutation research.

Usher syndrome in Denmark

T. Rosenberg, L. Møller, K. Grønskov, 2018 .

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

H. R. Stensland, F. Wibrand, A. Lund, 2015, Orphanet Journal of Rare Diseases.

amamutdb.no: A Relational Database for MAN2B1 Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in α‐Mannosidosis

P. Heikinheimo, Ø. Nilssen, H. Klenow, 2015, Human mutation.

Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation

E. Stensland, V. Brox, Ø. Nilssen, 2017, Neuromuscular Disorders.

Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)

S. Mellgren, K. Ørstavik, M. Van Ghelue, 2022, Neuromuscular Disorders.

Purification of Bovine Lysosomal α‐Mannosidase, Characterization of its Gene and Determination of two Mutations that Cause α‐Mannosidosis

G. Evjen, O. Tollersrud, Ø. Nilssen, 1997 .

Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.

L. Tranebjærg, Ø. Nilssen, P. Torring, 2021, European journal of medical genetics.

Purification of feline lysosomal α-mannosidase , determination of its cDNA sequence and identification of a mutation causing α-mannosidosis in Persian cats

O. Tollersrud, S. Walkley, Ø. Nilssen, 1997 .

Molecular characterization and phylogenetics of Fennoscandian cowpox virus isolates based on the p4c and atip genes

U. Moens, T. Traavik, T. Bøhn, 2014, Virology Journal.

Analysis and comparison of the 4b core protein gene of avipoxviruses from wild birds: Evidence for interspecies spatial phylogenetic variation

T. Traavik, M. Tryland, S. Weli, 2004, Archives of Virology.

Alpha-mannosidosis

Ø. Nilssen, D. Malm, 2008, Orphanet journal of rare diseases.

Genomic Structure of the Human Lysosomal α-Mannosidase Gene (MANB)

O. Tollersrud, G. Romeo, H. M. Riise, 1997 .

Spectrum of Mutations in α-Mannosidosis

O. Tollersrud, H. M. Riise, L. Tranebjærg, 1999 .

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I

L. Bindoff, E. Stensland, C. Jonsrud, 2011, Neuromuscular Disorders.

Identification of 83 Novel Alpha‐Mannosidosis‐Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations

Ø. Nilssen, L. Nguyen, D. Malm, 2012, Human mutation.

Identification of 83 novel alpha‐mannosidosis‐associated sequence variants: Functional analysis of MAN2B1 missense mutations

Ø. Nilssen, L. Nguyen, H. Klenow, 2012, Human mutation.

Comparison and phylogenetic analysis of cowpox viruses isolated from cats and humans in Fennoscandia

T. Traavik, Ø. Nilssen, H. Hansen, 2009, Archives of Virology.

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

S. Mellgren, T. Fagerheim, R. Østern, 2013, BMC Medical Genetics.

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II

C. Möller, T. Rosenberg, V. Brox, 2008, Human mutation.

Purification and characterization of recombinant human lysosomal alpha-mannosidase.

P. Meikle, O. Tollersrud, J. Hopwood, 2001, Molecular genetics and metabolism.

α-Mannosidosis : functional cloning of the lysosomal α-mannosidase cDNA and identification of a mutation in two affected siblings

G. Evjen, O. Tollersrud, H. M. Riise, 1997 .

Usher syndrome in Denmark: mutation spectrum and some clinical observations

T. Rosenberg, A. Roux, H. Karstensen, 2016, Molecular genetics & genomic medicine.

Identification of novel USH2A mutations: implications for the structure of USH2A protein

T. Rosenberg, W. Kimberling, M. D. Weston, 2000, European Journal of Human Genetics.

Hereditary motor neuron disease in a large Norwegian family with a “H46R” substitution in the superoxide dismutase 1 gene

T. Strom, T. Holmøy, T. Fagerheim, 2012, Neuromuscular Disorders.

Human polyomavirus BK (BKV) transiently transforms and persistently infects cultured osteosarcoma cells.

T. Traavik, C. H. Rinaldo, Ø. Nilssen, 2003, Virus research.

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype

T. Fagerheim, E. Delpire, S. Løseth, 2022, Brain : a journal of neurology.

Molecular and cellular characterization of novel a-mannosidosis mutations

H. R. Stensland, P. Heikinheimo, Ø. Nilssen, 2011 .

Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease

C. Möller, L. Hagenfeldt, L. Tranebjærg, 2002, Journal of medical genetics.

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations

S. Mellgren, T. Fagerheim, R. Østern, 2014, BMC Medical Genetics.

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

H. C. Beck, P. Saftig, F. Wibrand, 2013, Journal of Inherited Metabolic Disease.

Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.

T. Fagerheim, H. Elverland, L. Tranebjaerg, 1996, Human molecular genetics.

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

M. Van Ghelue, C. Jonsrud, S. Løseth, 2021, Neuromuscular Disorders.

Lactococcin A, a new bacteriocin from Lactococcus lactis subsp. cremoris: isolation and characterization of the protein and its gene

I. Nes, H. Holo, Ø. Nilssen, 1991, Journal of bacteriology.

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II

C. Möller, T. Rosenberg, V. Brox, 2008, Human mutation.

Characterization of a novel α-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation

O. Tollersrud, Ø. Nilssen, H. M. Frostad Riise, 1999, Human Genetics.