[HTML][HTML] The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force
M Beaudin, A Matilla-Dueñas, BW Soong, JL Pedroso… - The Cerebellum, 2019 - Springer
There is currently no accepted classification of autosomal recessive cerebellar ataxias, a
group of disorders characterized by important genetic heterogeneity and complex …
group of disorders characterized by important genetic heterogeneity and complex …
Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society task force–an update
LM Lange, P Gonzalez‐Latapi… - Movement …, 2022 - Wiley Online Library
Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …
Genetic Movement Disorders presented a new system for naming genetically determined …
[HTML][HTML] The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25
Abstract Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of
hereditary peripheral neuropathies. We previously reported a CMT locus on chromosome …
hereditary peripheral neuropathies. We previously reported a CMT locus on chromosome …
Autosomal recessive cerebellar ataxias with elevated alpha‐fetoprotein: uncommon diseases, common biomarker
M Renaud, C Tranchant, M Koenig… - Movement …, 2020 - Wiley Online Library
ABSTRACT alpha‐Fetoprotein (AFP) is a biomarker of several autosomal recessive
cerebellar ataxias (ARCAs), especially ataxia telangiectasia (AT) and ataxia with oculomotor …
cerebellar ataxias (ARCAs), especially ataxia telangiectasia (AT) and ataxia with oculomotor …
[HTML][HTML] Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor
B Jiang, C Murray, BL Cole, JNM Glover, GK Chan… - Scientific reports, 2022 - nature.com
Abstract Polynucleotide Kinase-Phosphatase (PNKP) is a bifunctional enzyme that
possesses both DNA 3′-phosphatase and DNA 5′-kinase activities, which are required …
possesses both DNA 3′-phosphatase and DNA 5′-kinase activities, which are required …
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations
M Gatti, S Magri, L Nanetti, E Sarto… - American Journal of …, 2019 - Wiley Online Library
Pathogenic variants in polynucleotide kinase 3′‐phosphatase (PNKP) gene have been
associated with two distinct clinical presentations: autosomal recessive microcephaly …
associated with two distinct clinical presentations: autosomal recessive microcephaly …
[HTML][HTML] Label-Free Detection of T4 Polynucleotide Kinase Activity and Inhibition via Malachite Green Aptamer Generated from Ligation-Triggered Transcription
J Si, W Zhou, Y Fang, D Zhou, Y Gao, Q Yao, X Shen… - Biosensors, 2023 - mdpi.com
Polynucleotide kinase (PNK) is a key enzyme that is necessary for ligation-based DNA
repair. The activity assay and inhibitor screening for PNK may contribute to the prediction …
repair. The activity assay and inhibitor screening for PNK may contribute to the prediction …
Ataxia with oculomotor apraxia type 4 with PNKP common “Portuguese” and novel mutations in two Belarusian families
GE Rudenskaya, AV Marakhonov… - Journal of Pediatric …, 2019 - thieme-connect.com
Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP-related
disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation …
disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation …
The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population
W Mu, N Schiess, JL Orthmann-Murphy… - Journal of …, 2019 - Taylor & Francis
There is increasing evidence that whole exome sequencing (WES) has a high diagnostic
yield and is cost-efficient for individuals with neurological phenotypes. However, there is …
yield and is cost-efficient for individuals with neurological phenotypes. However, there is …
Clinical and genetic characterization of Brazilian patients with ataxia and oculomotor apraxia
SCG da Costa, FM Rezende Filho… - Movement …, 2022 - Wiley Online Library
BACKGROUND Ataxia with oculomotor apraxia (AOA) is characterized by early‐onset
cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 …
cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 …