Cristin-person-ID: 317324
Person

Øyvind Løvold Busk

  • Stilling:
    Overingeniør
    ved Medisinsk serviceklinikk ved Sykehuset Telemark HF

Resultater Resultater

Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders.

Olsen, Cathrine Goberg; Busk, Øyvind; Holla, Øystein Lunde; Tveten, Kristian; Holmøy, Trygve; Tysnes, Ole-Bjørn; Høyer, Helle. 2023, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. TELEMARK, HAUKELAND, UIO, AHUSVitenskapelig artikkel

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sheppard, Sara E.; Bryant, Laura; Wickramasekara, Rochelle N.; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J.; Faundes, Victor; Duffourd, Yannis mfl.. 2023, Science Advances. NICHD, MAYO, SPANIA, PENN, UoM, UG, UNN, UCHILE, CHOP, EMC, UoU, UoW, GOSH, INSEL, CHU DIJON, WUSL, SORBONNE, USA, UK-ESSEN, CUitCoNY, UMCN, UZ, TELEMARK, STORBRITAN, UMC, MELB, MUR, NIH, UADB, FRANKRIKE, NUoS, MGH, ICREA, CS, CU, UdB, UNIDUISB, STGEORGES, PMU, UdSdF, FAU, LUMCVitenskapelig artikkel

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

Høyer, Helle; Busk, Øyvind Løvold; Esbensen, Qin Ying; Røsby, Oddveig; Hilmarsen, Hilde Tveitan; Russell, Michael Bjørn; Nyman, Tuula Anneli; Braathen, Geir Julius; Nilsen, Hilde Loge. 2022, BMC Neurology. TELEMARK, UIO, AHUS, OUSVitenskapelig artikkel

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

Olsen, Cathrine Goberg; Busk, Øyvind Løvold; Aanjesen, Tori Navestad; Alstadhaug, Karl Bjørnar; Bjørnå, Ingrid Kristine; Braathen, Geir Julius; Breivik, Kristin Lif; Demic, Natasha; Flemmen, Heidi Øyen; Hallerstig, Erika Carina mfl.. 2022, Neuroepidemiology. VV, HELSEFONNA, TELEMARK, VESTFOLD, HELSENTRØN, HELSENSS, HAUKELAND, NTNU, OUS, INNLANDET, UIB, SUS, HELSEMR, UNN, STOLAV, HELSEFØRDE, UIO, SØRLAND, AHUS, ØSTFOLDVitenskapelig artikkel

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

Lippe, Charlotte von der; Tveten, Kristian; Prescott, Trine; Holla, Øystein Lunde; Busk, Øyvind Løvold; Burke, Katherine B.; Sansbury, Francis H.; Baptista, Júlia; Fry, Andrew E.; Lim, Derek mfl.. 2021, American Journal of Medical Genetics. Part A. HSJD, STOLAV, TELEMARK, UoMC, UoC, STORBRITAN, CARDIFF, NTNU, SPANIA, FRANKRIKE, ITALIA, UFRDTVitenskapelig artikkel
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