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
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
Multivalent DNA and nucleosome acidic patch interactions specify VRK1 mitotic localization and activity.
Budziszewski GR et al.
Nucleic Acids Research, 2022
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene.
Sung A et al.
Neurology. Genetics, 2021
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M et al.
European Journal of Neurology, 2021
Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu X et al.
European Journal of Neurology, 2020
VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease.
Silva DP et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathy.
Greenbaum L et al.
Muscle & Nerve, 2020
Homozygous splice-site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy.
Wu R et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2019
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.
Sedghi M et al.
Annals of Clinical and Translational Neurology, 2019
Select a paper to view details