Associated Papers
Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin.
Puglisi R
Biomedicines, 2022
Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases.
Rao VK et al.
Case Reports in Neurological Medicine, 2018
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Galea CA et al.
Annals of Neurology, 2016
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.
Evans-Galea MV et al.
Neurogenetics, 2011
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
Santos R et al.
Antioxidants & Redox Signaling, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Frataxin gene point mutations in Italian Friedreich ataxia patients.
Gellera C et al.
Neurogenetics, 2007
The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias.
Di Donato S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2001
Identification of three novel frameshift mutations in patients with Friedreich's ataxia.
Pook MA et al.
Journal of Medical Genetics, 2000
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Cossée M et al.
Annals of Neurology, 1999
Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.
Bartolo C et al.
American Journal of Medical Genetics, 1998
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
Forrest SM et al.
Neurogenetics, 1998
Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor.
Zühlke C et al.
Human Genetics, 1998
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.
Monrós E et al.
American Journal of Human Genetics, 1997
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Campuzano V et al.
Science (new York, N.y.), 1996