Associated Papers
Phenotyping Gaze: Hallmarks of Recessive Ataxia with PNKP Gene Variant.
de Moura RJP et al.
Movement Disorders Clinical Practice, 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
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
Santos M et al.
Cells, 2022
35326432 (PubMed )
Supplement: cells-11-00981-s001.zip › Table_S1.xlsx › WES_variants
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 repair deficiency in neuropathogenesis: when all roads lead to mitochondria.
Bermúdez-Guzmán L et al.
Translational Neurodegeneration, 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
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
Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.
Taniguchi-Ikeda M et al.
Clinical Genetics, 2018
Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.
Dumitrache LC et al.
Mechanisms of Ageing and Development, 2017
Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.
Pedroso JL et al.
Neurology. Genetics, 2015
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Bras J et al.
American Journal of Human Genetics, 2015
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