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Ophthalmic features of Friedreich ataxia

Patients diagnosed with FRDA by genetic analysis were invited to participate in a prospective cohort. The patients included underwent an extensive ophthalmologic examination, including low-contrast Sloan letter charts test and retinal nerve fiber layer (RNFL) thickness analysis by optical coherence tomography (OCT).

Ophthalmic features of Friedreich ataxia

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2021 (7)
- January (7)
  - • Dimethyl fumarate dose-depend…
  - • Methylated and unmethylated e…
  - • Omaveloxolone: potential new …
  - • Hand Dexterity and Pyramidal …
  - • Friedreich ataxia in COVID-19…
  - • LEXEO Therapeutics Launches w…
  - • Developing an Instrumented Me…
2020 (134)
- December (10)
  - • Cardiomyopathy as the first m…
  - • Effects of Fe 2+/Fe 3+ Bindin…
  - • Efficacy and Tolerability of …
  - • Exicure Provides Neuroscience…
  - • Thioredoxin and Glutaredoxin …
  - • Minoryx's clinical candidate …
  - • Calcitriol increases frataxin…
  - • Larimar Therapeutics Announce…
  - • Mitochondrial dysfunction in …
  - • Molecular Defects in Friedrei…
- November (13)
  - • Central Nervous System Therap…
  - • High Levels of Frataxin Overe…
  - • The Nrf2 induction prevents f…
  - • Antiferroptotic Activity of P…
  - • Ferroptosis in Friedreich's A…
  - • Analysis of Postural Control …
  - • PPAR gamma agonist leriglitaz…
  - • Sensitivity of Neuroimaging I…
  - • Effect of Mitochondrial and C…
  - • Electrocardiogram in Friedrei…
  - • Epicardial ablation for ventr…
  - • An Overview of the Ferroptosi…
  - • Oxidative stress modulates re…
- October (14)
  - • Aerobic Exercises Induce Anti…
  - • Safety and Efficacy of Omavel…
  - • Clinical Therapeutic Manageme…
  - • Longitudinal Study of Cogniti…
  - • Sexual function, intimate rel…
  - • Assessment of Disease Progres…
  - • Clinical Features and Molecul…
  - • Inhibition of the SUV4-20 H1 …
  - • Assessment of Ataxia Rating S…
  - • Quantitative Assessment of Fr…
  - • Oxidative stress-dependent fr…
  - • Mechanistic concepts of iron-…
  - • Expanding the genotype-phenot…
  - • Loss of mitochondrial localiz…
- September (12)
  - • Extra-mitochondrial mouse fra…
  - • A Highly Conserved Iron-Sulfu…
  - • Global, multi-stakeholder, co…
  - • Emerging therapies in Friedre…
  - • Iron-sulfur cluster protein N…
  - • Altered Secretome and ROS Pro…
  - • Iron-Sulfur Cluster Complex A…
  - • Molecular and Cellular Substr…
  - • HDAC3 deacetylates the DNA mi…
  - • Plasma and red blood cell mem…
  - • The Friedreich’s Ataxia Acc…
  - • Ataxia: Hope starts with meas…
- August (14)
  - • Friedreich Ataxia: current st…
  - • Frataxin gene editing rescues…
  - • Inherited Cerebellar Ataxias:…
  - • Atypical structures of GAA/TT…
  - • Reata provides update on deve…
  - • Test-retest reliability of th…
  - • Distribution of Particles in …
  - • Identification of a Novel Ole…
  - • R-loops promote trinucleotide…
  - • Onset features and time to di…
  - • A Drosophila model of Friedre…
  - • Antioxidant Defense Mechanism…
  - • Toward quantitative neuroimag…
  - • Antioxidant Therapies and Oxi…
- July (11)
  - • Larimar Therapeutics Announce…
  - • Relationship between activity…
  - • Current Status of microRNA-Ba…
  - • Safety and Efficacy of (+)-Ep…
  - • MR imaging and spectroscopy i…
  - • Cardiolipin-deficient cells h…
  - • Compound heterozygosity for a…
  - • Trinucleotide Repeat Disorder…
  - • Stress-induced Mouse Model of…
  - • A Novel Solution-Gated Graphe…
  - • New Request For Proposals: Th…
- June (10)
  - • Mitochondrial Damage and Sene…
  - • HMTase Inhibitors as a Potent…
  - • Feasibility and Acceptability…
  - • Treatment of Dilated Cardiomy…
  - • Defining Transcription Regula…
  - • Vestibular Impact of Friedrei…
  - • Cerebellar Cognitive Disorder…
  - • Significance of NT-proBNP and…
  - • CRISPR-Cas9 Gene Editing of H…
  - • Hereditary Ataxia: A Focus on…
- May (9)
  - • Chondrial Therapeutics and Za…
  - • Analysis of Putative Epigenet…
  - • Making iron-sulfur cluster: s…
  - • Neurofilament Light Chain as …
  - • Primary Proprioceptive Neuron…
  - • Oxidative Stress in DNA Repea…
  - • Neurologic Outcomes in Friedr…
  - • Therapeutic Potential of Stem…
  - • ExpansionHunter Denovo: A Com…
- April (10)
  - • Oxidative Stress, a Crossroad…
  - • Outlining the Complex Pathway…
  - • Progress Towards Drug Discove…
  - • A Comprehensive Transcriptome…
  - • An Overview of the Current St…
  - • Long-term voluntary running p…
  - • Calpain-Inhibitors Protect Fr…
  - • Cofilin dysregulation alters …
  - • Particle-mediated delivery of…
  - • Frataxin-deficient cardiomyoc…
- March (7)
  - • A wearable video-oculography …
  - • Neurophysiologic intraoperati…
  - • Design Therapeutics Launches …
  - • Identification of Frataxin as…
  - • The Assessment of Upper Limb …
  - • Inherited Metabolic Diseases …
  - • Management of Neuroinflammato…
- February (8)
  - • Psychometric properties of th…
  - • On the wrong DNA track: Molec…
  - • The Potential of the Novel NA…
  - • Ocular Involvement in Friedre…
  - • The NRF2 Signaling Network De…
  - • Mechanisms of Mitochondrial I…
  - • Developing an objective evalu…
  - • NfL and pNfH are increased in…
- January (16)
  - • Correlation of Visual Quality…
  - • Frataxin deficiency induces l…
  - • Imaging neuronal activity in …
  - • An Instrumented Measurement S…
  - • Predictors of loss of ambulat…
  - • Frataxin Structure and Functi…
  - • Safety and Efficacy of Interf…
  - • Frataxin deficiency in Friedr…
  - • Health related quality of lif…
  - • Multiple mechanisms underpin …
  - • Large-scale contractions of F…
  - • MDA Awards Venture Philanthro…
  - • Mammalian iron-sulfur cluster…
  - • Retrotope Expands its Drug Pi…
  - • Longitudinal Increases in Cer…
  - • Genetic Analysis of Hereditar…
2019 (102)
- December (16)
  - • Exenatide induces frataxin ex…
  - • Nanoscopic X-ray imaging and …
  - • Age of onset determines intri…
  - • A new tool to determine the c…
  - • Electrophysiological evidence…
  - • Neurochemical profiles in her…
  - • Iron Hack - A symposium/hacka…
  - • Chondrial Therapeutics Announ…
  - • Zafgen and Chondrial Therapeu…
  - • Exicure Announces First Neuro…
  - • Effects of tocotrienol supple…
  - • Friedreich's Ataxia: Case ser…
  - • Mitochondrial dysfunction in …
  - • Pediatric Neuromuscular Disor…
  - • N-Terminomics/TAILS Profiling…
  - • Possible Mechanisms of Biolog…
- November (11)
  - • Left ventricular structural a…
  - • Global Ataxia Advocacy Organi…
  - • Orphan Drugs In Development F…
  - • Temporal but not spatial dysm…
  - • Quantitative Proteomic and Ne…
  - • Refinement of protein Fe(II) …
  - • Evolutionarily conserved susc…
  - • Speech and Language Disorders…
  - • The Structure of the Human AC…
  - • Potential biomarker identific…
  - • The first biallelic missense …
- October (11)
  - • Targeting NRF2 for the Treatm…
  - • Cerebellum and cognition in F…
  - • Predictors of Left Ventricula…
  - • Induced pluripotent stem cell…
  - • Minoryx Therapeutics receives…
  - • Reata Announces Positive Topl…
  - • Primary Cultures of Pure Embr…
  - • Changes detected in swallowin…
  - • SINEUP non-coding RNAs rescue…
  - • Minoryx Therapeutics complete…
  - • Health-related quality of lif…
- September (6)
  - • Unique roles of iron and zinc…
  - • Mechanism of activation of th…
  - • Two new Pfizer-coauthored stu…
  - • Scoliosis in Patients With Fr…
  - • Friedreich ataxia- pathogenes…
  - • The Working Life of People wi…
- August (7)
  - • Backbone resonance assignment…
  - • Application of Quantitative M…
  - • Oral mobility reflects rate o…
  - • Excision of the expanded GAA …
  - • Folding and Dynamics are Stro…
  - • Nrf2 Induction Re-establishes…
  - • Physiologically relevant reco…
- July (8)
  - • Exploring iron-binding to hum…
  - • Low frataxin mRNA expression …
  - • REGENXBIO Announces New Licen…
  - • Molecular Mechanisms and Ther…
  - • New developments in pharmacot…
  - • The current state of biomarke…
  - • Correlation between frataxin …
  - • Evaluation of antibodies for …
- June (11)
  - • Frequency and Genetic Profile…
  - • FARA Job Posting: Associate D…
  - • Evidence for genetically dete…
  - • Open label Pilot Study of Ora…
  - • Deuterated Polyunsaturated Fa…
  - • Altered neocortical tactile b…
  - • Young Investigators: Call for…
  - • Microvascular pathology in Fr…
  - • p53 Binds Preferentially to N…
  - • Dimethyl fumarate dosing in h…
  - • Efficient Electroporation of …
- May (5)
- April (5)
- March (7)
  - • StrideBio and Takeda Sign Col…
  - • Patient reported outcomes in …
  - • Assessment of cell-free level…
  - • Inherited Ataxia and Intrathe…
  - • The role of robotic gait trai…
  - • The Role of Iron in Friedreic…
  - • Progress in understanding Fri…
- February (8)
  - • C-Path and FARA announce the …
  - • Minoryx Therapeutics receives…
  - • Guidelines on the diagnosis a…
  - • In Vitro interaction between …
  - • The role of mitochondrial lab…
  - • Pattern of Cerebellar Atrophy…
  - • Phosphodiesterase Inhibitors …
  - • Heart disease in Friedreich's…
- January (7)
  - • Neurocrine Biosciences and Vo…
  - • OGTT is recommended for gluco…
  - • Ferroptosis as a novel therap…
  - • Structural and functional cha…
  - • Longitudinal evaluation of ir…
  - • Drug repositioning screening …
  - • Differences in the determinan…
2018 (68)
- December (5)
- November (7)
  - • FAST-1 antisense RNA epigenet…
  - • Characterization of a new N-t…
  - • Rapid and Complete Reversal o…
  - • Oligonucleotides Hold Promise…
  - • Voyager Therapeutics Announce…
  - • Safety, pharmacodynamics, and…
  - • Plasma Markers of Neurodegene…
- October (6)
  - • Intraepidermal Nerve Fiber De…
  - • Calcium Deregulation: Novel I…
  - • Developmental and Neurodegene…
  - • Corneal Confocal Microscopy: …
  - • Phenothiazine antioxidants in…
  - • Automated functional upper li…
- September (5)
- August (6)
  - • Test-retest reliability of an…
  - • Two funded post-doctoral posi…
  - • Nonataxia symptoms in Friedre…
  - • Activating frataxin expressio…
  - • Novel Nrf2-Inducer Prevents M…
  - • Longitudinal analysis of cont…
- July (7)
  - • RNA-Dependent Epigenetic Sile…
  - • Zinc(II) binding on human wil…
  - • PTC Therapeutics to acquire A…
  - • Young Investigators, Call for…
  - • Impact of Drosophila Models i…
  - • Autonomic function testing in…
  - • Structural characteristics of…
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- May (5)
- April (3)
- March (9)
  - • Identification of p38 MAPK as…
  - • Iron regulatory protein defic…
  - • Mitofusin-Dependent ER Stress…
  - • GAA•TTC repeat expansion in…
  - • Pitfalls in molecular diagnos…
  - • Bone marrow transplantation s…
  - • Biophysical characterisation …
  - • Small RNA-seq analysis of cir…
  - • Progress in the treatment of …
- February (3)
- January (7)
  - • Activation of Frataxin Protei…
  - • Join Reata WebEx. Get updates…
  - • Quantitative proteomics in Fr…
  - • The role of Nrf2 signaling in…
  - • Effect Of Diazoxide on Friedr…
  - • Emotion Recognition and Psych…
  - • Friedreich and dominant ataxi…
2017 (79)
- December (8)
  - • Liquid Chromatography-High Re…
  - • Early VGLUT1-specific paralle…
  - • Somatic instability of the ex…
  - • Inducible and reversible phen…
  - • Mitochondrial pore opening an…
  - • The role of oxidative stress …
  - • Synthetic transcription elong…
  - • C-Path and FARA announce coll…
- November (5)
- October (16)
  - • Agilis Biotherapeutics Announ…
  - • Can rehabilitation improve th…
  - • Transplantation of wild-type …
  - • Friedreich's ataxia: clinical…
  - • Nrf2-Inducers Counteract Neur…
  - • Reata Announces First Patient…
  - • Friedreich Ataxia: Developmen…
  - • Sustained FXN expression in d…
  - • BioMarin Highlights Breadth o…
  - • CRISPR Therapeutics Awarded G…
  - • IARC 2017 Follow Up
  - • The Subclinical Cardiomyopath…
  - • FDA awards six grants for nat…
  - • Frataxin-deficient neurons an…
  - • Urinary, bowel and sexual sym…
  - • Agilis Biotherapeutics Update…
- September (6)
  - • Molecular Alterations in a Mo…
  - • Lipophilic methylene violet a…
  - • Reversible Axonal Dystrophy b…
  - • Impact of diabetes in the Fri…
  - • LNA effects on DNA binding an…
  - • Defining the Architecture of …
- August (10)
  - • Peptide SS-31 upregulates fra…
  - • Overexpression of Drosophila …
  - • Part 2 of the Phase II MOXIe …
  - • Cerebral Abnormalities in Fri…
  - • Jupiter Orphan Therapeutics R…
  - • Selected missense mutations i…
  - • FDA Confirms That Use of mFAR…
  - • Heart and Nervous System Path…
  - • Mitochondrial dysfunction in …
  - • Chondrial Announces FDA Orpha…
- July (6)
  - • Pharmacological therapeutics …
  - • Nicotinamide mononucleotide r…
  - • Call for Abstracts - 10th Ann…
  - • AFAF and FARA invite proposal…
  - • Circulating miR-323-3p is a b…
  - • How does performance of the F…
- June (2)
  - • Friedreich's ataxia induced p…
  - • Reata Pharmaceuticals, Inc. A…
- May (8)
  - • Cerebral compensation during …
  - • Progressive mitochondrial pro…
  - • Structural signature of class…
  - • Erythropoietin and small mole…
  - • Dimethyl Fumarate Mediates Nr…
  - • Normalization of timed neurop…
  - • Dysphagia in Friedreich Ataxi…
  - • Mesenchymal Stem Cell-Derived…
- April (3)
- March (4)
- February (4)
- January (7)
  - • Cardiac transplantation in Fr…
  - • Newly Funded FARA Grants
  - • Friedreich Ataxia: Hypoplasia…
  - • STEADFAST Background for the …
  - • Cytokine therapy-mediated neu…
  - • Deletion of the GAA repeats f…
  - • Mitochondrial capacity, muscl…
2016 (87)
- December (3)
- November (4)
- September (9)
  - • A longitudinal study of the S…
  - • Progression of Friedreich ata…
  - • Retrotope announces Phase I/I…
  - • Alleviating GAA repeat induce…
  - • Cognition in Friedreich's ata…
  - • Friedreich ataxia induced plu…
  - • Functional and Gait Assessmen…
  - • Pharmacological treatments fo…
  - • Neurobehavioral deficits in t…
- August (9)
  - • Serum versus Imaging Biomarke…
  - • Lentivirus-meditated frataxin…
  - • Frataxin silencing alters mic…
  - • Architecture of the Human Mit…
  - • Cerebral and cerebellar grey …
  - • Voice in Friedreich Ataxia
  - • Long-term treatment with thia…
  - • Agilis Biotherapeutics Announ…
  - • Pfizer aims to become industr…
- July (9)
  - • 9th Annual Friedreich’s Ata…
  - • The Replication of Frataxin G…
  - • Metal Homeostasis Regulators …
  - • The significance of intercala…
  - • Interferon gamma may improve …
  - • Deep sequencing of mitochondr…
  - • Crystal Structure of Bacillus…
  - • Downregulation of GSTK1 Is a …
  - • Vestibulo-ocular reflex dynam…
- June (3)
- May (11)
  - • Mitochondrial energy imbalanc…
  - • Reata Pharmaceuticals, Inc. A…
  - • Purkinje cell injury, structu…
  - • Plasma circulating cell-free …
  - • Horizon Pharma plc to Acquire…
  - • Abundance and Significance of…
  - • Meeting Notice: FARA's Bioma…
  - • Job Opportunity: Postdoctoral…
  - • Dorsal root ganglia in Friedr…
  - • Horizon Pharma plc Completes …
  - • Frataxin and the molecular me…
- April (11)
  - • Time-resolved functional anal…
  - • Two different pathogenic mech…
  - • Development of an AAV9 coding…
  - • Comorbid Medical Conditions i…
  - • Lymphoblast Oxidative Stress …
  - • Effects of Genetic Severity o…
  - • Using human pluripotent stem …
  - • Gastrocnemius and soleus spas…
  - • The Structure of the Complex …
  - • Clinical Experience With Defe…
  - • Iron chelation in the treatme…
- March (4)
- February (8)
  - • Reversal of epigenetic promot…
  - • Combined Cerebellar Proton MR…
  - • Intrathecal delivery of frata…
  - • Long-term effect of epoetin a…
  - • Retrotope advances RT001 in c…
  - • Gene transfer of brain derive…
  - • Activating frataxin expressio…
  - • Avalanche Biotechnologies and…
- January (16)
  - • Emerging therapies in Friedre…
  - • Friedreich Ataxia and nephrot…
  - • Nonneurological Involvement i…
  - • Pathology of Intercalated Dis…
  - • FARA Announces Catabasis Phar…
  - • Update on the STEADFAST study
  - • Chondrial Therapeutics Announ…
  - • Jupiter Orphan Therapeutics, …
  - • FARA Grant Program Update
  - • Annapurna Therapeutics to Col…
  - • Compound heterozygous FXN mut…
  - • Longitudinal magnetic resonan…
  - • Perturbation of cellular prot…
  - • Analyzing the Effects of a G1…
  - • GIFT-1, a phase IIa clinical …
  - • Efficient attenuation of Frie…
2015 (23)
- December (2)
  - • Retrotope RT0001 Clinical Tri…
  - • Reata RTA 408 Clinical Trial …
- November (2)
  - • Retrotope announces opening o…
  - • Funding Announcement: Clinica…
- September (8)
  - • A 22-Year Follow-up Study of …
  - • Expanded GAA repeats impede t…
  - • FXN Promoter Silencing in the…
  - • Delayed-onset Friedreich's at…
  - • Evidence for chromosome fragi…
  - • Frataxin levels in peripheral…
  - • Friedreich ataxia in Norway -…
  - • Investigation of mitochondria…
- August (11)
  - • Stable isotopes and LC-MS for…
  - • Phenotypic Screening for Frie…
  - • Key Patent Granted For AAVLif…
  - • New funding opportunity annou…
  - • Call for Abstracts due Friday…
  - • Targeting lipid peroxidation …
  - • Mitigation of Myocardial Isch…
  - • The Role of Frataxin in Doxor…
  - • Regional Cerebral Disease Pro…
  - • Gene Expression Profile in Pe…
  - • TORC1 Inhibition by Rapamycin…

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