Associated Papers
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
Shieh JT et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Conservative Iron Chelation for Neuroferritinopathy.
Marchand F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.
Hajati R et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2022
Pathogenic mechanism and modeling of neuroferritinopathy.
Cozzi A et al.
Cellular and Molecular Life Sciences : Cmls, 2021
L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.
Cadenas B et al.
Pharmaceuticals (basel, Switzerland), 2019
Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration.
Muhoberac BB et al.
Frontiers in Neuroscience, 2019
Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management.
Kumar N et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2016
Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.
Levi S et al.
Neurobiology of Disease, 2015
Behavioral characterization of mouse models of neuroferritinopathy.
Capoccia S et al.
Plos One, 2015
A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.
Moutton S et al.
Parkinsonism & Related Disorders, 2014
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.
Levi S et al.
Frontiers in Pharmacology, 2014
PRRT2 gene mutations in familial and sporadic paroxysmal kinesigenic dyskinesia cases.
Shi CH et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).
Schneider SA et al.
Current Neuropharmacology, 2013
Abnormal iron homeostasis and neurodegeneration.
Muhoberac BB et al.
Frontiers in Aging Neuroscience, 2013
[Clinical feature of neuroferritinopathy].
Ohta E
Rinsho Shinkeigaku = Clinical Neurology, 2012
A novel FTL insertion causing neuroferritinopathy.
Batey S et al.
Journal of Medical Genetics, 2010
Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation.
Devos D et al.
Brain : a Journal of Neurology, 2009
[Clinical features of neuroferritinopathy].
Ohta E et al.
Rinsho Shinkeigaku = Clinical Neurology, 2009
[Roles of mitochondrial dysfunctions in Alzheimer's disease--contribution of deficiency of ALDH 2].
Ohta S
Rinsho Shinkeigaku = Clinical Neurology, 2000
[A case of Kearns-Sayre-Shy syndrome with abnormal signal intensity on MRI in cerebral white matter and brainstem].
Shindo K et al.
Rinsho Shinkeigaku = Clinical Neurology, 1991
[Family with hereditary polyneuropthy assoicated with pyramidal signs].
Doi H et al.
Rinsho Shinkeigaku = Clinical Neurology, 1976