Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.
Si L et al.
Neurogenetics, 2023
Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD.
Dong S et al.
Frontiers in Neurology, 2023
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 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_2.XLSX › Sheet1
Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: A case report and review of Chinese cases.
Zhang Y et al.
Medicine, 2019
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.
Lee JH et al.
Journal of Movement Disorders, 2016
Long-lasting isolated freezing of gait with good response to methylphenidate: A patient with pantothenate kinase-associated neurodegeneration.
Kwon KY et al.
Parkinsonism & Related Disorders, 2015
Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration.
Ma LY et al.
Clinical Genetics, 2015
Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review.
Lee CH et al.
Thescientificworldjournal, 2013
A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism.
Seo JH et al.
Journal of Clinical Neurology (seoul, Korea), 2009
Novel compound heterozygous mutations in the pantothenate kinase 2 gene in a korean patient with atypical pantothenate kinase associated neurodegeneration.
Kim SH et al.
Journal of Movement Disorders, 2009
Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration.
Lyoo CH et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
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