Associated Papers
Rare PANK2 variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic.
Vardarajan BN et al.
Brain Communications, 2025
Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India.
Sriram N et al.
Parkinsonism & Related Disorders, 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
Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
Álvarez-Córdoba M et al.
Orphanet Journal of Rare Diseases, 2022
Cerebral and cerebellar white matter tract alterations in patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN).
Rivera D et al.
Parkinsonism & Related Disorders, 2022
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
Changes in Cerebral Gray and White Matter in Patients with Pantothenate Kinase-Associated Neurodegeneration: A Long-Term Magnetic Resonance Imaging Follow-Up Study.
Roa-Sanchez P et al.
Journal of Movement Disorders, 2021
Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation.
Wang ZB et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2019
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.
Tello C et al.
Clinical Genetics, 2018
Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities.
Estrada-Veras JI et al.
Molecular Genetics & Genomic Medicine, 2016
Changes of cerebral white matter in patients suffering from Pantothenate Kinase-Associated Neurodegeneration (PKAN): A diffusion tensor imaging (DTI) study.
Stoeter P et al.
Parkinsonism & Related Disorders, 2015
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.
Schiessl-Weyer J et al.
Plos One, 2015
Grey matter alterations in patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN).
Rodriguez-Raecke R et al.
Parkinsonism & Related Disorders, 2014
Idiopathic basal ganglia calcifications: an atypical presentation of PKAN.
Wu YW et al.
Pediatric Neurology, 2013
Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population.
Schneider SA et al.
Current Treatment Options in Neurology, 2013
Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.
Kurian MA et al.
International Review of Neurobiology, 2013
Motor activation in patients with Pantothenate-Kinase Associated Neurodegeneration: a functional magnetic resonance imaging study.
Stoeter P et al.
Parkinsonism & Related Disorders, 2012
Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).
Delgado RF et al.
Journal of Magnetic Resonance Imaging : Jmri, 2012