Associated Papers
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
30678075 (PubMed )
Supplement: pharmaceuticals-12-00017-s001.pdf
Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management.
Kumar N et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2016
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).
Schneider SA et al.
Current Neuropharmacology, 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
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.
Chinnery PF et al.
Brain : a Journal of Neurology, 2007
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
Maciel P et al.
Neurology, 2005
[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
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