Mikko Muona
Espoo, Finland
Last Updated: 09/26/2026
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Found 25 publications
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Journal: Frontiers in cardiovascular medicine
Published: July 06, 2023
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Journal: Translational vision science & technology
Published: January 05, 2022
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Journal: Brain : a journal of neurology
Published: October 08, 2021
GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy.
Journal: Frontiers in genetics
Published: September 30, 2021
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Journal: Brain communications
Published: July 02, 2021
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.
Journal: Cell reports
Published: November 16, 2020
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 19, 2020
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
Journal: Annals of neurology
Published: July 02, 2020
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Journal: American journal of human genetics
Published: June 29, 2020
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
Journal: PloS one
Published: June 18, 2020
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Journal: BMC cardiovascular disorders
Published: May 24, 2020
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions.
Journal: Acta dermato-venereologica
Published: May 01, 2019
Last Updated: 09/26/2026