Oivind Nilssen

Tromso, 9019, Norway

Last Updated: 09/26/2026

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Found 17 publications

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

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

Journal: Brain : a journal of neurology

Published: May 03, 2022

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

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

Journal: Neuromuscular disorders : NMD

Published: February 22, 2022

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

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

Journal: Neuromuscular disorders : NMD

Published: June 23, 2021

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

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

Journal: European journal of medical genetics

Published: December 21, 2020

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

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

Journal: Neuropathology and applied neurobiology

Published: June 26, 2020

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

Journal: Neuromuscular disorders : NMD

Published: September 09, 2016

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

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

Journal: Human mutation

Published: July 12, 2016

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

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

Journal: Molecular genetics & genomic medicine

Published: February 03, 2016

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

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

Journal: Orphanet journal of rare diseases

Published: February 09, 2015

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.

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.

Journal: Human mutation

Published: December 17, 2014

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

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

Journal: Virology journal

Published: January 29, 2014

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

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

Journal: BMC medical genetics

Published: October 30, 2013

Showing 1-12 of 17

Last Updated: 09/26/2026