Associated Papers
Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review.
Tao Y et al.
Frontiers in Neurology, 2023
37188304 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration.
Sakpichaisakul K et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2019
First successful trial of preimplantation genetic diagnosis for pantothenate kinase-associated neurodegeneration.
Trachoo O et al.
Journal of Assisted Reproduction and Genetics, 2017
Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.
Cangül H et al.
The Turkish Journal of Pediatrics, 0
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