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
CMT2 and distal hereditary motor neuropathy associated with VRK1 variants: Case series.
Živković SA et al.
Neuromuscular Disorders : Nmd, 2025
Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report.
Siriniwasa H et al.
Bmj Neurology Open, 2025
ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons.
Oliveira D et al.
Neurobiology of Disease, 2024
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
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene.
Sung A et al.
Neurology. Genetics, 2021
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.
Sedghi M et al.
Annals of Clinical and Translational Neurology, 2019
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Previtali SC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.
Martín-Doncel E et al.
Scientific Reports, 2019
Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease.
Yamaura G et al.
Internal Medicine (tokyo, Japan), 2019
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
El-Bazzal L et al.
Human Molecular Genetics, 2019
A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy.
Feng SY et al.
Annals of Clinical and Translational Neurology, 2019
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.
Stoll M et al.
Neurology, 2016
Expanding Phenotype of VRK1 Mutations in Motor Neuron Disease.
Nguyen TP et al.
Journal of Clinical Neuromuscular Disease, 2015