Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
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
A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.
Werning M et al.
Biomolecules, 2022
Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.
Li WB et al.
Frontiers in Aging Neuroscience, 2022
35462688 (PubMed )
Supplement: Table_4.XLSX › Sheet1
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.
Lee JH et al.
Journal of Movement Disorders, 2016
26828213 (PubMed )
Supplement: jmd-15058-supple.pdf
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
Hartig MB et al.
Annals of Neurology, 2006
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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