Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 2025
Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma.
Reddy V et al.
Cureus, 2023
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.
Sait H et al.
Neurogenetics, 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
Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.
Li WB et al.
Frontiers in Aging Neuroscience, 2022
Treatment Responsiveness of Parkinsonism in Atypical Pantothenate Kinase-Associated Neurodegeneration.
Feuerstein J et al.
Movement Disorders Clinical Practice, 2020
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Darling A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Late onset atypical pantothenate-kinase-associated neurodegeneration.
Diaz N
Case Reports in Neurological Medicine, 2013
Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI.
Camargos ST et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2011
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
Hayflick SJ et al.
The New England Journal of Medicine, 2003
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
Zhou B et al.
Nature Genetics, 2001
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