Associated Papers
Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.
Ragona F et al.
Neurosci, 2025
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.
Takada S et al.
The Journal of Allergy and Clinical Immunology. Global, 2025
Prenatal phenotype of PNKP-related microcephaly, seizures, and developmental delay: A case report and literature review.
Xie JL et al.
Medicine, 2025
HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia.
Bayram N et al.
Pediatric Transplantation, 2022
Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor.
Jiang B et al.
Scientific Reports, 2022
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Neuser S et al.
European Journal of Human Genetics : Ejhg, 2022
Mutational survivorship bias: The case of PNKP.
Bermúdez-Guzmán L et al.
Plos One, 2020
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Gatti M et al.
American Journal of Medical Genetics. Part A, 2019
DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging.
Tiwari V et al.
American Journal of Human Genetics, 2019
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder.
Caputi C et al.
Parkinsonism & Related Disorders, 2019
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.
Campopiano R et al.
Frontiers in Neurology, 2019
Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.
Dumitrache LC et al.
Mechanisms of Ageing and Development, 2017
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
Nair P et al.
American Journal of Medical Genetics. Part A, 2016
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Bras J et al.
American Journal of Human Genetics, 2015
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
Nakashima M et al.
Journal of Human Genetics, 2014
A single strand that links multiple neuropathologies in human disease.
Reynolds JJ et al.
Brain : a Journal of Neurology, 2013
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.
Reynolds JJ et al.
Nucleic Acids Research, 2012
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Shen J et al.
Nature Genetics, 2010