Mikko Muona
Blueprint Genetics (Finland)(FI)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Migraine and Headache Studies, Glycogen Storage Diseases and Myoclonus, Cardiomyopathy and Myosin Studies, Genomics and Rare Diseases
Most-Cited Works
- → Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine(2016)693 cited
- → A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy(2014)313 cited
- → Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy(2016)113 cited
- → Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties(2017)87 cited
- → Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes(2021)83 cited
- → Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache(2020)83 cited
- → A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine(2020)76 cited
- → Segmental isotopic labeling of multi-domain and fusion proteins by protein trans-splicing in vivo and in vitro(2010)73 cited
- → Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings(2013)64 cited
- → Mutation of the nuclear lamin geneLMNB2in progressive myoclonus epilepsy with early ataxia(2015)54 cited