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Weiyi Mu, Nicoline Schiess, Jennifer L. Orthmann-Murphy & Ayman W. El-Hattab. (2019) The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population. Journal of Neurogenetics 33:1, pages 21-26.
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Jingyi Si, Wei Zhou, Ying Fang, Da Zhou, Yifan Gao, Qunyan Yao, Xizhong Shen & Changfeng Zhu. (2023) Label-Free Detection of T4 Polynucleotide Kinase Activity and Inhibition via Malachite Green Aptamer Generated from Ligation-Triggered Transcription. Biosensors 13:4, pages 449.
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Sophia Caldas Gonzaga da Costa, Flávio Moura Rezende Filho, Júlian Leticia de Freitas, Paula Camila Alves de Assis Pereira Matos, Bruno Della‐Ripa, Marcondes Cavalcante FrançaJrJr, Wilson MarquesJuniorJunior, Mariana Santos, Igor Vasconcelos Barros Cronemberger, Thiago Cardoso Vale, Fernando Kok, Isabel Alonso, José Luiz Pedroso & Orlando G.P. Barsottini. (2022) Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia. Movement Disorders 37:6, pages 1309-1316.
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Lara M. Lange, Paulina Gonzalez‐Latapi, Rajasumi Rajalingam, Marina A.J. Tijssen, Darius Ebrahimi‐Fakhari, Carolin Gabbert, Christos Ganos, Rhia Ghosh, Kishore R. Kumar, Anthony E. Lang, Malco Rossi, Sterre Veen, Bart Warrenburg, Tom Warner, Katja Lohmann, Christine Klein & Connie Marras. (2022) Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update. Movement Disorders 37:5, pages 905-935.
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Bingcheng Jiang, Cameron Murray, Bonnie L. Cole, J. N. Mark Glover, Gordon K. Chan, Jean Deschenes, Rajam S. Mani, Sudip Subedi, John D. Nerva, Anthony C. Wang, Christina M. Lockwood, Heather C. Mefford, Sarah E. S. Leary, Jeffery G. Ojemann, Michael Weinfeld & Chibawanye I. Ene. (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. Scientific Reports 12:1.
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Mark R. Garrelfs, Sanami Takada, Erik-Jan Kamsteeg, Sjoert Pegge, Grazia Mancini, Marc Engelen, Bart van de Warrenburg, Alexander Rennings, Judith van Gaalen, Ivo Peters, Corry Weemaes, Mirjam van der Burg & Michèl A. Willemsen. (2020) The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort. Pediatric Neurology 113, pages 26-32.
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Mathilde Renaud, Christine Tranchant, Michel Koenig & Mathieu Anheim. (2020) Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker. Movement Disorders 35:12, pages 2139-2149.
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Rosa Campopiano, Rosangela Ferese, Fabio Buttari, Cinzia Femiano, Diego Centonze, Francesco Fornai, Francesca Biagioni, Maria Antonietta Chiaravalloti, Mauro Magnani, Emiliano Giardina, Anna Ruzzo & Stefano Gambardella. (2020) 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. Frontiers in Neurology 10.
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Marie Beaudin, Antoni Matilla-Dueñas, Bing-Weng Soong, Jose Luiz Pedroso, Orlando G. Barsottini, Hiroshi Mitoma, Shoji Tsuji, Jeremy D. Schmahmann, Mario Manto, Guy A Rouleau, Christopher Klein & Nicolas Dupre. (2019) The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force. The Cerebellum 18:6, pages 1098-1125.
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Marta Gatti, Stefania Magri, Lorenzo Nanetti, Elisa Sarto, Daniela Di Bella, Ettore Salsano, Chiara Pantaleoni, Caterina Mariotti & Franco Taroni. (2019)
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Caroline Tilikete & Matthieu P. Robert. 2019. Advances in Translational Neuroscience of Eye Movement Disorders. Advances in Translational Neuroscience of Eye Movement Disorders
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Alejandro Leal, Sixto Bogantes-Ledezma, Arif B. Ekici, Steffen Uebe, Christian T. Thiel, Heinrich Sticht, Martin Berghoff, Corinna Berghoff, Bernal Morera, Michael Meisterernst & André Reis. (2018) The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. neurogenetics 19:4, pages 215-225.
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G. E. Rudenskaya, E. I. Surkova & F. A. Konovalov. (2018) Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 118:3, pages 10.
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