Oystein L. Holla

Skien, Norway

Last Updated: 09/26/2026

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Found 31 publications

Association of UNC13A with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohort.

Association of UNC13A with increased amyotrophic lateral sclerosis risk, bulbar onset, and lower motor neuron involvement in a Norwegian ALS cohort.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: March 26, 2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 13, 2025

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Journal: Orphanet journal of rare diseases

Published: April 12, 2024

A monoallelic UXS1 variant associated with short-limbed short stature.

A monoallelic UXS1 variant associated with short-limbed short stature.

Journal: Molecular genetics & genomic medicine

Published: January 19, 2024

Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders.

Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: October 18, 2023

Repeat expansions in AR, ATXN1, ATXN2 and HTT in Norwegian patients diagnosed with amyotrophic lateral sclerosis.

Repeat expansions in AR, ATXN1, ATXN2 and HTT in Norwegian patients diagnosed with amyotrophic lateral sclerosis.

Journal: Brain communications

Published: September 21, 2023

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Journal: American journal of human genetics

Published: June 10, 2023

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Journal: American journal of human genetics

Published: May 28, 2023

Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study.

Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study.

Journal: Neuroepidemiology

Published: March 15, 2022

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.

Journal: Journal of medical genetics

Published: October 20, 2021

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.

Journal: Journal of medical genetics

Published: September 02, 2021

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

Journal: American journal of medical genetics. Part A

Published: June 19, 2021

Showing 1-12 of 31

Last Updated: 09/26/2026