Associated Papers
Phenotyping Gaze: Hallmarks of Recessive Ataxia with PNKP Gene Variant.
de Moura RJP et al.
Movement Disorders Clinical Practice, 2025
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
Santos M et al.
Cells, 2022
A New Phenotype of Ataxia With Oculomotor Apraxia Type 4.
Freitas E et al.
Cureus, 2021
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
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder.
Caputi C et al.
Parkinsonism & Related Disorders, 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
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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