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
Sissel Løseth,
Helle Høyer,
KIM MAI LE,
Eric Delpire,
Einar Kinge,
Asgeir Lande
m.fl.:
Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype
Marika Fjellberg Moldenæs,
Nanna D. Rendtorff,
Lone S. Hindbæk,
Pernille M. Tørring,
Øivind Nilssen,
Lisbeth Tranebjærg
:
Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome
European Journal of Medical Genetics 2021
ARKIV /
DOI
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
Veronika Franeková,
Hilde Storjord,
Gunnar Leivseth,
Øivind Nilssen
:
Protein homeostasis in LGMDR9 (LGMD2I) – The role of ubiquitin‐proteasome and autophagy‐lysosomal system
Neuropathology and Applied Neurobiology 2020
ARKIV /
DOI
Dag Malm,
Øivind Nilssen
:
alpha-Mannosidosis 2019
Maisoon Alhamidi,
Vigdis Brox,
Eva Stensland,
Merete Liset,
Sigurd Lindal,
Øivind Nilssen
:
Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation
Neuromuscular Disorders 2017
ARKIV /
DOI
Sheena Dad,
Nanna Dahl Rendtorff,
Lisbeth Tranebjærg,
Karen Grønskov,
Helena Gasdal Karstensen,
Vigdis Brox
m.fl.:
Usher syndrome in Denmark: mutation Spectrum and some clinical observations
Molecular Genetics & Genomic Medicine 15. september 2016
ARKIV /
DOI
Line Borgwardt,
Hilde Monica Frostad Riise Stensland,
Klaus Juul Olsen,
Flemming Wibrand,
Helle Klenow,
Michael Beck
m.fl.:
Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Inherited metabolic diseases
Orphanet Journal of Rare Diseases 2015
ARKIV /
DOI
Hilde Monica Frostad Riise Stensland,
Gabrio Frantzen,
Elina Kuokkanen,
Elisabeth Kjeldsen,
Helle Klenow,
Pirkko Heikinheimo
m.fl.:
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
Dag Malm,
Hilde Monica Frostad Riise Stensland,
Øyvind Edvardsen,
Øivind Nilssen
:
The natural course and complications of alpha-mannosidosis-a retrospective and descriptive study
The Journal of Inherited Metabolic Disease (JIMD) 06. juni 2013
DOI
Rune André Helland Østern,
Toril Fagerheim,
Helene Hjellnes,
Bjørn Nygård,
Svein Ivar Mellgren,
Øivind Nilssen
:
Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations
Malachy Ifeanyi Okeke,
Arinze Stanley Okoli,
Øivind Nilssen,
Ugo Moens,
Morten Tryland,
Thomas Bøhn
m.fl.:
Molecular characterization and phylogenetics of Fennoscandian cowpox virus isolates based on the p4c and atip genes
Rune André Helland Østern,
Toril Fagerheim,
Helene Hjellnes,
Bjørn Nygård,
Svein Ivar Mellgren,
Øivind Nilssen
:
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
BMC Medical Genetics 21. september 2013
ARKIV /
DOI
Line Borgwardt,
Christine I. Dali,
Jens Fogh,
Jan-Eric Månsson,
Klaus Juel Olsen,
Hans C. Beck
m.fl.:
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study
The Journal of Inherited Metabolic Disease (JIMD) 14. mars 2013
DOI
hilde frostad riise Stensland,
Helle Bagterp Klenow,
Lam Van Nguyen,
gaute Hansen,
Dag Malm,
Øivind Nilssen
:
Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations
Dag Malm,
Hilde Monica F Riise Stensland,
Øivind Nilssen
:
Glycoproteinoses
Rune André Helland Østern,
Toril Fagerheim,
Kristin Ørstavik,
Trygve Holmøy,
Arvid Heiberg,
Inger Lund-Petersen
m.fl.:
Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene
Neuromuscular Disorders 2012
DOI
Eva Stensland,
Sigurd Lindal,
Christoffer Jonsrud,
Torberg Torbergsen,
Laurence Bindoff,
Magnhild Rasmussen
m.fl.:
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I
Neuromuscular Disorders 2011
DOI
E Kuokkanen,
hilde frostad riise Stensland,
W Smith,
Elisabeth Kjeldsen ,
Lam van Nguyen,
Øivind Nilssen
m.fl.:
Molecular and cellular characterization of novel alpha-mannosidosis mutations
Human Molecular Genetics 2011
DOI
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
Malachy Ifeanyi Okeke,
Øivind Nilssen,
Ugo Moens,
Morten Tryland,
Terje Traavik
:
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 occuring cowpox virus isolate
Malachy Ifeanyi Okeke,
Olayiwola Adekoya,
Ugo Moens,
Morten Tryland,
Terje Traavik,
Øivind Nilssen
:
Comparative sequence analysis of A-type inclusion (ATI) and P4c proteins of orthopoxviruses that produce typical and atypical ATI phenotypes
Hilde Hansen,
Malachy Ifeanyi Okeke,
Øivind Nilssen,
Terje Traavik
:
Comparison and phylogenetic analysis of cowpox viruses isolated from cats and humans in Fennoscandia
Archives of Virology 2009
DOI
Dag Malm,
Øivind Nilssen
:
Alpha-mannosidosis
Dag Malm,
Øivind Nilssen
:
Alpha-Mannosidosis
Gene Reviews : Gene Tests 2008
Harald Strand,
Ole C Ingebretsen,
Øivind Nilssen
:
Real-time detection and quantification of mitochondrial mutations with oligonucleotide primers containing locked nucleic acid
Clinica Chimica Acta 2008
DOI
Bo Dreyer,
Vigdis Brox,
lisbeth TranebjÆrg,
Thomas Rosenberg,
Andre M. Sadeghi,
Claes Moller
m.fl.:
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II
Human Mutation 01. mars 2008
DOI
Mona Nystad,
Toril Fagerheim,
Vigdis Brox,
Elizabeth Fortunato,
Øivind Nilssen
:
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
Malachy Ifeanyi Okeke,
Øivind Nilssen,
Terje Traavik
:
A modified vaccinia virus Ankara (MVA)-vectored influenza vaccine undergoes full and limited productive infection in many mammalian cell lines
Journal of General Virology 2006
Malachy Ifeanyi Okeke,
Øivind Nilssen,
Terje I Traavik
:
Modified vaccinia virus Ankara multiplies in rat IEC-6 cells and limited production of mature virions occurs in other mammalian cell lines
Journal of General Virology 2006
DOI
Simon Chioma Weli,
Øivind Nilssen,
Terje I Traavik
:
Avipoxvirus multiplication in a mammalian cell line
Virus Research 2005
Simon Weli,
Terje I Traavik,
Morten Tryland,
Dag-Hugo Coucheron,
Øivind Nilssen
:
Analysis and comparison of the 4b core protein gene of avipoxviruses from wild birds: Evidence for interspecies spatial phylogenetic variation
Archives of Virology 2004
Dag Malm,
Øivind Nilssen
:
Alfa-mannosidose: En sykdom som forverres gradvis
Sigurd Lindal,
Eva Stensland,
Maisoon Alhamidi,
Magnhild Rasmussen,
Christoffer Jonsrud,
Vigdis Brox
m.fl.:
LGMD2I: Is there a relationship between clinical phenotype, morphological alterations and level of a-dystroglycan (aDG) glycosylation in patients with the same FKRP genotype
2014
Sigurd Lindal,
Kate Myreng,
Sissel Løseth,
Christoffer Jonsrud,
Maisoon Alhamidi,
Eva Stensland
m.fl.:
Muscle biopsy findings in Limb Girdle Muscle Dystrophy 2I (LGMD2I)
Sigurd Lindal,
Kate Myreng,
Sissel Løseth,
Christoffer Jonsrud,
Maisoon Alhamidi,
Eva Stensland
m.fl.:
Muscle biopsy findings in Limb Girdle muscle Dystrophy 2I (LGMD2I)
Neuromuscular Disorders 2013
DOI
Maja Sojtaric,
Øivind Nilssen
:
Kur for sjelden sykdom & Født sånn, blitt sånn
Mona Nystad,
Agnete Jørgensen,
Øivind Nilssen,
valeria Marton
:
Delineation of syndromic Wolff-Parkinson-White due to 20p12.3 microdeletion of BMP2 region in a boy, his sister and their mosaic mother
European Society of Human Genetics (ESHG) Conference 2012, Nurnberg, Germany 23.06-26.06.2012 2012
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
Øivind Nilssen,
hilde frostad riise Stensland,
Dag Malm
:
Clinical utility gene card for: alpha-Mannosidosis
European Journal of Human Genetics 2011
DOI
Øivind Nilssen
:
Nær kur for sjelden sykdom
malachy ifeanyi Okeke,
Olayiwola Adekoya,
Terje Traavik,
Øivind Nilssen
:
Comparative sequence and structure analysis of A-tpe inclusion body (ATI) and p4c proteins of Orthopoxviruses that produce typical and atypical ATI phenotypes
2007
ole c Ingebretsen,
Harald Strand,
Øivind Nilssen
:
A Sensitive Method, Based on Real-Time PCR Technology, for the Detection and Quantification of the Heteroplasmic, Mitochondrial, 3243 A>G, MELAS Mutation
Journal of the American Society of Nephrology 2006
Harald Strand,
ole c Ingebretsen,
Øivind Nilssen
:
Detection and quantification of heteroplasmic mitochondrial mutations with real-time PCR technology
UiT Norges arktiske universitet 2006
ole c Ingebretsen,
Harald Strand,
Øivind Nilssen
:
A Sensitive Method, Based on Real-Time PCR Technology, for the Detection and Quantification of the Heteroplasmic, Mitochondrial, 3242A>G, MELAS Mutation
2006
Sigurd Lindal,
C Jonsrud,
Øivind Nilssen,
E Stensland,
C Borota,
Torberg Torbergsen
:
Mutations in the Fukutin-Related Protein Gene (FKRP): Clinical, structural and molecular genetical aspects of Limb Girdle Muscular Dystrophy type 2I (LGMD2I) in 43 Norwegian patients
2006
Christoffer Jonsrud,
Sigurd Lindal,
Torberg Torbergsen,
Eva Stensland,
Magnhild Rasmussen,
O Borota
m.fl.:
Spectrum of mutations and prevalence of FKRP associated disease in Norway.Neuromuscular Disorders, Volume 16, Issues 9-10, Oct 2006, pp680-681
Dag Malm,
HM Stensland,
Øivind Nilssen,
Øyvind Edvardsen
:
The natural course of alpha-mannosidosis
Book of abstract 2005
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