Associated Papers
Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy: A Case Report.
Hebbink JA et al.
Neurology. Genetics, 2026
FTH1-Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia.
Chowdhury SR et al.
Movement Disorders Clinical Practice, 2026
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
Shieh JT et al.
Hgg Advances, 2023
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
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