Associated Papers
Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients.
Abdel-Salam GMH et al.
Journal of Medical Genetics, 2026
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
Phenotyping Gaze: Hallmarks of Recessive Ataxia with PNKP Gene Variant.
de Moura RJP et al.
Movement Disorders Clinical Practice, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
Santos M et al.
Cells, 2022
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S et al.
Molecular Genetics & Genomic Medicine, 2021
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.
Bitarafan F et al.
Fetal and Pediatric Pathology, 2021
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Garrelfs MR et al.
Pediatric Neurology, 2020
Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
Kalasova I et al.
Nucleic Acids Research, 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder.
Caputi C et al.
Parkinsonism & Related Disorders, 2019
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.
Leal A et al.
Neurogenetics, 2018
Rare loss of function variants in candidate genes and risk of colorectal cancer.
Rosenthal EA et al.
Human Genetics, 2018
Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.
Scholz C et al.
Clinical Genetics, 2018
Chronic oxidative damage together with genome repair deficiency in the neurons is a double whammy for neurodegeneration: Is damage response signaling a potential therapeutic target?
Wang H 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
Expanding the ataxia with oculomotor apraxia type 4 phenotype.
Paucar M et al.
Neurology. Genetics, 2016
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Bras J et al.
American Journal of Human Genetics, 2015
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM et al.
Cell Reports, 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.
Oegema R et al.
Brain : a Journal of Neurology, 2014
Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.
Poulton C et al.
Neurogenetics, 2013
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Shen J et al.
Nature Genetics, 2010
Characteristics of epilepsy secondary to mutations in the PNKP gene.
Furones García M et al.
Neurologia, 0