Associated Papers
Missense variants in PKAN: insights from a multi-patient genetic analysis.
Kılıç M et al.
Neurogenetics, 2025
Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation.
Araújo Salomão RP 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
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
Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.
Li WB et al.
Frontiers in Aging Neuroscience, 2022
Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family.
Shalash AS et al.
Heliyon, 2021
Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome.
González Huerta LM et al.
Psychiatric Genetics, 2021
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
Werning M et al.
Annals of Clinical and Translational Neurology, 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
Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.
Sami N et al.
Molecular Neurobiology, 2017
Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.
Akcakaya NH et al.
Clinical Neurology and Neurosurgery, 2017
The clinical syndrome of dystonia with anarthria/aphonia.
Ganos C et al.
Parkinsonism & Related Disorders, 2016
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.
Lee JH et al.
Journal of Movement Disorders, 2016
7-Tesla Magnetic Resonance Imaging for Brain Iron Quantification in Homozygous and Heterozygous PANK2 Mutation Carriers.
Dusek P et al.
Movement Disorders Clinical Practice, 2014
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.
Levi S et al.
Frontiers in Pharmacology, 2014
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
D216H polymorphism within TOR1A does not affect penetrance in DRD and is not a general modifier in primary dystonia.
Herzfeld T et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.
Rump P et al.
Neurogenetics, 2005
Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).
Egan RA et al.
American Journal of Ophthalmology, 2005
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