Associated Papers
An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia.
Da Conceição LMA et al.
International Journal of Molecular Sciences, 2024
38891993 (PubMed )
Supplement: ijms-25-05796-s001.zip › Table_S1.pdf
Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich's Ataxia.
Monfort B et al.
Frontiers in Neuroscience, 2022
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Galea CA et al.
Annals of Neurology, 2016
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
Santos R et al.
Antioxidants & Redox Signaling, 2010
Frataxin gene point mutations in Italian Friedreich ataxia patients.
Gellera C et al.
Neurogenetics, 2007
Investigation of recessive ataxia loci in patients with young age of onset.
Zühlke C et al.
Neuropediatrics, 2007
Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.
Zühlke CH et al.
European Journal of Human Genetics : Ejhg, 2004
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