Works by Nilssen, Øivind

Results: 25

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

Published in:

2015

By:

Borgwardt, Line;
Stensland, Hilde Monica Frostad Riise;
Olsen, Klaus Juul;
Wibrand, Flemming;
Klenow, Helle Bagterp;
Beck, Michael;
Amraoui, Yasmina;
Arash, Laila;
Fogh, Jens;
Nilssen, øivind;
Dali, Christine I;
Lund, Allan Meldgaard;
Nilssen, Øivind

Publication type:

journal article

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 527, doi. 10.1002/mgg3.228

By:

Dad, Shzeena;
Rendtorff, Nanna Dahl;
Tranebjærg, Lisbeth;
Grønskov, Karen;
Karstensen, Helena Gásdal;
Brox, Vigdis;
Nilssen, Øivind;
Roux, Anne‐Françoise;
Rosenberg, Thomas;
Jensen, Hanne;
Møller, Lisbeth Birk

Publication type:

Article

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

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0286-x

By:

Borgwardt, Line;
Frostad Riise Stensland, Hilde Monica;
Olsen, Klaus Juul;
Wibrand, Flemming;
Klenow, Helle Bagterp;
Beck, Michael;
Amraoui, Yasmina;
Arash, Laila;
Fogh, Jens;
Nilssen, Øivind;
Dali, Christine I.;
Meldgaard Lund, Allan

Publication type:

Article

The natural course and complications of alpha-mannosidosis-a retrospective and descriptive study.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 79, doi. 10.1007/s10545-013-9622-2

By:

Malm, Dag;
Riise Stensland, Hilde;
Edvardsen, Øyvind;
Nilssen, Øivind

Publication type:

Article

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

Published in:

Neuropathology & Applied Neurobiology, 2021, v. 47, n. 4, p. 519, doi. 10.1111/nan.12684

By:

Franekova, Veronika;
Storjord, Hilde I.;
Leivseth, Gunnar;
Nilssen, Øivind

Publication type:

Article

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

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/1471-2350-15-12

By:

Østern, Rune;
Fagerheim, Toril;
Hjellnes, Helene;
Nygård, Bjørn;
Mellgren, Svein Ivar;
Nilssen, Øivind

Publication type:

Article

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.

Published in:

BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-94

By:

Østern, Rune;
Fagerheim, Toril;
Hjellnes, Helene;
Nygård, Bjørn;
Mellgren, Svein I;
Nilssen, Øivind

Publication type:

Article

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

Published in:

Human Mutation, 2016, v. 37, n. 8, p. 827, doi. 10.1002/humu.23002

By:

Riise Stensland, Hilde Monica Frostad;
Klenow, Helle Bagterp;
Nguyen, Lam Van;
Hansen, Gaute Martin;
Malm, Dag;
Nilssen, Øivind

Publication type:

Article

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.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 581, doi. 10.1002/humu.22787

By:

Riise Stensland, Hilde Monica Frostad;
Frantzen, Gabrio;
Kuokkanen, Elina;
Buvang, Elisabeth Kjeldsen;
Klenow, Helle Bagterp;
Heikinheimo, Pirkko;
Malm, Dag;
Nilssen, Øivind

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 511, doi. 10.1002/humu.22005

By:

Riise Stensland, Hilde Monica Frostad;
Klenow, Helle Bagterp;
Nguyen, Lam Van;
Hansen, Gaute Martin;
Malm, Dag;
Nilssen, Øivind

Publication type:

Article

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

Published in:

Human Mutation, 2008, v. 29, n. 3, p. 451, doi. 10.1002/humu.9524

By:

Dreyer, Bo;
Brox, Vigdis;
Tranebjærg, Lisbeth;
Rosenberg, Thomas;
Sadeghi, Andrè M.;
Möller, Claes;
Nilssen, Øivind

Publication type:

Article

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

Published in:

Virology Journal, 2014, v. 11, n. 1, p. 1, doi. 10.1186/1743-422X-11-119

By:

Okeke, Malachy Ifeanyi;
Okoli, Arinze Stanley;
Nilssen, Øivind;
Moens, Ugo;
Tryland, Morten;
Bøhn, Thomas;
Traavik, Terje

Publication type:

Article

Clinical utility gene card for: α-Mannosidosis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 1, doi. 10.1038/ejhg.2011.5

By:

Nilssen, Øivind;
Stensland, Hilde Monica Frostad Riise;
Malm, Dag

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 500, doi. 10.1038/sj.ejhg.5200491

By:

Dreyer, Bo;
Tranebjærg, Lisbeth;
Rosenberg, Thomas;
Weston, Michael D;
Kimberling, William J;
Nilssen, Øivind

Publication type:

Article

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.

Published in:

Virology Journal, 2009, v. 6, p. 1, doi. 10.1186/1743-422X-6-55

By:

Okeke, Malachy Ifeanyi;
Nilssen, Øivind;
Moens, Ugo;
Tryland, Morten;
Traavik, Terje

Publication type:

Article

Molecular and cellular characterization of novel α-mannosidosis mutations.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 13, p. 2651, doi. 10.1093/hmg/ddr167

By:

Kuokkanen, Elina;
Riise Stensland, Hilde Monica Frostad;
Smith, Wesley;
Kjeldsen Buvang, Elisabeth;
Van Nguyen, Lam;
Nilssen, Øivind;
Heikinheimo, Pirkko

Publication type:

Article

Fukutin-Related Protein Resides in the Golgi Cisternae of Skeletal Muscle Fibres and Forms Disulfide-Linked Homodimers via an N-Terminal Interaction.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022968

By:

Alhamidi, Maisoon;
Buvang, Elisabeth Kjeldsen;
Fagerheim, Toril;
Brox, Vigdis;
Lindal, Sigurd;
Ghelue, Marijke Van;
Nilssen, Øivind

Publication type:

Article

Morphogenesis of fowlpox virus in a baby hamster kidney cell line.

Published in:

Medical Electron Microscopy, 2004, v. 37, n. 4, p. 225, doi. 10.1007/s00795-004-0257-0

By:

Weli, Simon Chioma;
Nilssen, Øivind;
Traavik, Terje

Publication type:

Article

Modulation of Disease Severity of Dystrophic Epidermolysis Bullosa By a Splice Site Mutation in Combination with a Missense Mutation in the COL7A1 Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1125, doi. 10.1093/hmg/6.7.1125

By:

Winberg, Jan-Olof;
Hammami-Hauasli, Nadja;
Nilssen, Øivind;
Anton-Lamprecht, Ingrun;
Naylor, Susan L.;
Kerbacher, Karen;
Zimmermann, Mirjam;
Krajci, Peter;
Gedde-Dahl, Tobias;
Bruckner-Tuderman, Leena

Publication type:

Article

α-Mannosidosis:Functional Cloning of the Lysosomal α-Mannosidase cDNA and Identification of a Mutation in Two Affected Siblings.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 717, doi. 10.1093/hmg/6.5.717

By:

Nilssen, Øivind;
Berg, Thomas;
Riise, Hilde M. F.;
Ramachandran, Umayal;
Evjen, Gry;
Hansen, Gaute M.;
Malm, Dag;
Tranebjaerg, Lisbeth;
Tollersrud, Ole K.

Publication type:

Article

A simple and rapid PCR based method for AGUFin determination.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 484

By:

Nilssen, Øivind;
Tollersrud, Ole Kristian;
Borud, Olav;
Tranebjærg, Lisbeth

Publication type:

Article

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

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 912, doi. 10.1093/brain/awac488

By:

Løseth, Sissel;
Høyer, Helle;
Le, Kim-Mai;
Delpire, Eric;
Kinge, Einar;
Lande, Asgeir;
Hilmarsen, Hilde Tveitan;
Fagerheim, Toril;
Nilssen, Øivind;
Braathen, Geir Julius

Publication type:

Article

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

Published in:

Virus Genes, 2009, v. 39, n. 2, p. 200, doi. 10.1007/s11262-009-0376-8

By:

Okeke, Malachy Ifeanyi;
Adekoya, Olayiwola A.;
Moens, Ugo;
Tryland, Morten;
Traavik, Terje;
Nilssen, Øivind

Publication type:

Article

Alpha-mannosidosis.

Published in:

2008

By:

Malm D;
Nilssen ø;
Malm, Dag;
Nilssen, Øivind

Publication type:

journal article

Alpha-mannosidosis.

Published in:

Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-21

By:

Malm, Dag;
Nilssen, Øivind

Publication type:

Article