Michiel R. Fokkens
Groningen, GR 9713GZ, Netherlands
Last Updated: 09/26/2026
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Found 13 publications
Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.
Journal: International journal of molecular sciences
Published: September 07, 2024
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Journal: Frontiers in genetics
Published: September 24, 2021
Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.
Journal: NPJ Parkinson's disease
Published: June 16, 2021
Parkinson's disease-associated VPS35 mutant reduces mitochondrial membrane potential and impairs PINK1/Parkin-mediated mitophagy.
Journal: Translational neurodegeneration
Published: January 28, 2021
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Journal: Brain : a journal of neurology
Published: March 20, 2017
Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23.
Journal: Brain : a journal of neurology
Published: December 22, 2014
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
Journal: PloS one
Published: September 16, 2014
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
Journal: Cellular and molecular life sciences : CMLS
Published: July 31, 2014
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.
Journal: Journal of neurology
Published: January 21, 2013
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Journal: Annals of neurology
Published: April 05, 2012
Last Updated: 09/26/2026