Associated Papers
Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.
Maassen WTK et al.
Nar Genomics and Bioinformatics, 2026
The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency.
Yılmaz-Gümüş E et al.
Molecular Genetics and Metabolism, 2026
Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients.
Giuliano M et al.
Genes, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study.
Pereira A et al.
Orphanet Journal of Rare Diseases, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
Maggi J et al.
International Journal of Molecular Sciences, 2024
Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation.
Araújo Salomão RP et al.
Parkinsonism & Related Disorders, 2024
Illustration of the long-term efficacy of pallidal deep brain stimulation in a patient with PKAN dystonia.
Romito LM et al.
Parkinsonism & Related Disorders, 2024
Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration.
Saini A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
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
Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.
Yang D et al.
Orphanet Journal of Rare Diseases, 2022
A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.
Werning M et al.
Biomolecules, 2022
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome.
Ley Martos M et al.
Journal of Movement Disorders, 2020
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
Werning M et al.
Annals of Clinical and Translational Neurology, 2020
Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.
Santambrogio P et al.
International Journal of Molecular Sciences, 2020
Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation.
Wang ZB et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2019
Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.
Sami N et al.
Molecular Neurobiology, 2017
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
Dastsooz H et al.
Bmc Medical Genetics, 2017
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.
Lee JH et al.
Journal of Movement Disorders, 2016
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
Woltjer RL et al.
Molecular Genetics and Metabolism, 2015
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.
Levi S et al.
Frontiers in Pharmacology, 2014
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
DaRe JT et al.
Bmc Medical Genetics, 2013
Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population.
Schneider SA et al.
Current Treatment Options in Neurology, 2013
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).
Schneider SA et al.
Current Neuropharmacology, 2013
Syndromes of neurodegeneration with brain iron accumulation.
Schneider SA et al.
Seminars in Pediatric Neurology, 2012
Impaired Coenzyme A metabolism affects histone and tubulin acetylation in Drosophila and human cell models of pantothenate kinase associated neurodegeneration.
Siudeja K et al.
Embo Molecular Medicine, 2011
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration.
Kruer MC et al.
Brain : a Journal of Neurology, 2011
Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.
McWilliam CA et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010
Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model.
Wu Z et al.
Human Molecular Genetics, 2009
Clinical and genetic delineation of neurodegeneration with brain iron accumulation.
Gregory A et al.
Journal of Medical Genetics, 2009
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
Matarin MM et al.
Neuroscience Letters, 2006
Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).
Egan RA et al.
American Journal of Ophthalmology, 2005
Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.
Thomas M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
Houlden H et al.
Neurology, 2003
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
[About pantothenate kinase deficiency-associated neurodegeneration or PKAN].
Gilgenkrantz S
Medecine Sciences : M/s, 0
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)].
Carod-Artal FJ et al.
Revista De Neurologia, 0
NBIA Syndromes: A Step Forward from the Previous Knowledge.
Svetel M et al.
Neurology India, 0