Associated Papers
The phenotyping dilemma in VRK1-related motor neuron disease: a Turkish family with young-onset amyotrophic lateral sclerosis caused by a novel mutation.
Mercan M et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy.
Campos-Díaz A et al.
Journal of Molecular Medicine (berlin, Germany), 2024
Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia.
Morejon-Garcia P et al.
Neurology. Genetics, 2021
VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy.
Marcos AT et al.
Annals of Clinical and Translational Neurology, 2020
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
El-Bazzal L et al.
Human Molecular Genetics, 2019
From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.
Scherrer C et al.
Journal of Tissue Engineering, 0
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