Associated Papers
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
Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.
Dumitrache LC 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
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Shen J et al.
Nature Genetics, 2010
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