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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
CMT2 and distal hereditary motor neuropathy associated with VRK1 variants: Case series.
Živković SA et al.
Neuromuscular Disorders : Nmd, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
VRK1 as a synthetic lethal target in VRK2 promoter-methylated cancers of the nervous system.
So J et al.
Jci Insight, 2022
Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.
Yaron Y et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
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
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene.
Sung A et al.
Neurology. Genetics, 2021
Prenatal diagnosis of diencephalic-mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.
Lawrence AK et al.
Prenatal Diagnosis, 2021
The human VRK1 chromatin kinase in cancer biology.
Campillo-Marcos I et al.
Cancer Letters, 2021
Systematic review and meta-analysis of human transcriptomics reveals neuroinflammation, deficient energy metabolism, and proteostasis failure across neurodegeneration.
Noori A et al.
Neurobiology of Disease, 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
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.
Sedghi M et al.
Annals of Clinical and Translational Neurology, 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 mutation in VRK1 associated with distal spinal muscular atrophy.
Li N et al.
Journal of Human Genetics, 2019
A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy.
Feng SY et al.
Annals of Clinical and Translational Neurology, 2019
Vrk1 partial Knockdown in Mice Results in Reduced Brain Weight and Mild Motor Dysfunction, and Indicates Neuronal VRK1 Target Pathways.
Vinograd-Byk H et al.
Scientific Reports, 2018
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.
Stoll M et al.
Neurology, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Expanding Phenotype of VRK1 Mutations in Motor Neuron Disease.
Nguyen TP et al.
Journal of Clinical Neuromuscular Disease, 2015
The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.
Vinograd-Byk H et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
Peeters K et al.
Brain : a Journal of Neurology, 2014
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 2014
VRK1 interacts with p53 forming a basal complex that is activated by UV-induced DNA damage.
López-Sánchez I et al.
Febs Letters, 2014
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.
Gonzaga-Jauregui C et al.
Jama Neurology, 2013
Substrate profiling of human vaccinia-related kinases identifies coilin, a Cajal body nuclear protein, as a phosphorylation target with neurological implications.
Sanz-García M et al.
Journal of Proteomics, 2011
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
Namavar Y et al.
Orphanet Journal of Rare Diseases, 2011
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.
Renbaum P et al.
American Journal of Human Genetics, 2009