Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.R154insFs
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FTL

NM_000146.4:p.R154insFs

Associated Papers

Very Late-Onset Neurodegeneration with Brain Iron Accumulation Associated with Mild Chorea: A Clinicopathological Case.

Sipilä JOT et al.

Movement Disorders Clinical Practice, 2025

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.

Ortigoza-Escobar JD

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023

37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1

Pathogenic mechanism and modeling of neuroferritinopathy.

Cozzi A et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration.

Muhoberac BB et al.

Frontiers in Neuroscience, 2019

Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.

Levi S et al.

Neurobiology of Disease, 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

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

Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate.

McNeill A et al.

Ajnr. American Journal of Neuroradiology, 2012

Neuroferritinopathy: update on clinical features and pathogenesis.

McNeill A et al.

Current Drug Targets, 2012

Iron dysregulation in movement disorders.

Dusek P et al.

Neurobiology of Disease, 2012

Neuroferritinopathy: a new inborn error of iron metabolism.

Keogh MJ et al.

Neurogenetics, 2012

Neurodegeneration with brain iron accumulation.

McNeill A et al.

Handbook of Clinical Neurology, 2011

Abnormal iron metabolism in fibroblasts from a patient with the neurodegenerative disease hereditary ferritinopathy.

Barbeito AG et al.

Molecular Neurodegeneration, 2010

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

Neuroferritinopathy.

Burn J et al.

Seminars in Pediatric Neurology, 2006

Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎.

Brugger F et al.

Movement Disorders Clinical Practice, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."