Tarja H. Joensuu
Helsinki, 00014, Finland
Last Updated: 09/26/2026
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Found 16 publications
Transcriptomic and proteomic insights into progressive myoclonus epilepsy type 1.
Journal: Disease models & mechanisms
Published: September 25, 2025
Exploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: May 02, 2025
Cystatin B deficiency results in sustained histone H3 tail cleavage in postnatal mouse brain mediated by increased chromatin-associated cathepsin L activity.
Journal: Frontiers in molecular neuroscience
Published: October 13, 2022
Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis.
Journal: Neurobiology of disease
Published: January 29, 2021
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
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.
Journal: Neuropediatrics
Published: May 26, 2018
Brain inflammation is accompanied by peripheral inflammation in Cstb -/- mice, a model for progressive myoclonus epilepsy.
Journal: Journal of neuroinflammation
Published: September 27, 2016
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Journal: Brain : a journal of neurology
Published: September 18, 2016
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Journal: Nature genetics
Published: July 08, 2014
Last Updated: 09/26/2026