Compound heterozygousFXNmutations and clinical outcome in friedreich ataxia

Towards Understanding RNA-Mediated Neurological Disorders

(2014) Ranhui Duan et al.   Journal of Genetics and Genomics

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools

(2014) Geneieve Tai et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia

(2014) Morgane Perdomini et al.   NATURE MEDICINE

The amyloid state and its association with protein misfolding diseases

(2014) Tuomas P. J. Knowles et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

(2014) Emil Ygland et al.   PARKINSONISM & RELATED DISORDERS

Bioinformatics analysis of the epitope regions for norovirus capsid protein

(2013) Liping Chen et al.   BMC BIOINFORMATICS

Repeat-associated non-ATG (RAN) translation in neurological disease

(2013) J. D. Cleary et al.   HUMAN MOLECULAR GENETICS

Diabetes in Friedreich Ataxia

(2013) Miriam Cnop et al.   JOURNAL OF NEUROCHEMISTRY

Exonic Deletions of FXN and Early-Onset Friedreich Ataxia

(2012) Mathieu Anheim et al.   ARCHIVES OF NEUROLOGY

Complete FXN Deletion in a Patient with Friedreich's Ataxia

(2012) Ans M.W. van den Ouweland et al.   Genetic Testing and Molecular Biomarkers

Missense Mutations Linked to Friedreich Ataxia Have Different but Synergistic Effects on Mitochondrial Frataxin Isoforms

(2012) Hongqiao Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene

(2012) Francesco Saccà et al.   JOURNAL OF NEUROLOGY

Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia

(2012) Haiyan Xia et al.   PLoS One

Structure–Function Analysis of Friedreich’s Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe–S Assembly Complex

(2011) Jennifer Bridwell-Rabb et al.   BIOCHEMISTRY

PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality

(2011) Yves Dehouck et al.   BMC BIOINFORMATICS

Mortality in Friedreich Ataxia

(2011) Amy Y. Tsou et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A novel deletion–insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype

(2011) Marguerite V. Evans-Galea et al.   NEUROGENETICS

Friedreich Ataxia: Molecular Mechanisms, Redox Considerations, and Therapeutic Opportunities

(2010) Renata Santos et al.   ANTIOXIDANTS & REDOX SIGNALING

Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin

(2010) Ivano Condò et al.   HUMAN MOLECULAR GENETICS

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Friedreich’s Ataxia: A New Mutation in Two Compound Heterozygous Siblings with Unusual Clinical Onset

(2009) Laura Doria Lamba et al.   EUROPEAN NEUROLOGY

The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia

(2009) Nadège Calmels et al.   PLoS One

Epigenetic Silencing in Friedreich Ataxia Is Associated with Depletion of CTCF (CCCTC-Binding Factor) and Antisense Transcription

(2009) Irene De Biase et al.   PLoS One

Protein Misfolding and Neurodegeneration

(2008) Claudio Soto et al.   ARCHIVES OF NEUROLOGY

Dynamics, stability and iron-binding activity of frataxin clinical mutants

(2008) Ana R. Correia et al.   FEBS Journal