Associated Papers
Dystonic Leg Cramps and Cataracts with Low Ferritin and Normal Neuroimaging: An Overlapping Spectrum of FTL Gene Related Disorders.
Mustafa F et al.
Movement Disorders Clinical Practice, 2024
A newly identified ferritin L-subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia.
Shagidov D et al.
American Journal of Hematology, 2024
A 3'-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathy.
Turner S et al.
European Journal of Medical Genetics, 2021
L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.
Cadenas B et al.
Pharmaceuticals (basel, Switzerland), 2019
Systemic and cerebral iron homeostasis in ferritin knock-out mice.
Li W et al.
Plos One, 2015
Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.
Cozzi A et al.
The Journal of Experimental Medicine, 2013
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