Oyvind L. Busk

Skien, Norway

Last Updated: 09/26/2026

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Found 22 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

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: January 24, 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

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

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Journal: Science advances

Published: March 10, 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

Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.

Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.

Journal: BMC neurology

Published: December 14, 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

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Journal: Genome medicine

Published: September 02, 2020

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

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

Published: June 08, 2020

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Journal: American journal of human genetics

Published: January 08, 2019

Showing 1-12 of 22

Last Updated: 09/26/2026