Related references
Note: Only part of the references are listed.Deletion of the GAA repeats from the human frataxin gene using the CRISPR-Cas9 system in YG8R-derived cells and mouse models of Friedreich ataxia
D. L. Ouellet et al.
GENE THERAPY (2017)
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study (vol 15, pg 1346, 2016)
Kathrin Reetz et al.
LANCET NEUROLOGY (2017)
Dimethyl fumarate mediates Nrf2-dependent mitochondrial biogenesis in mice and humans
Genki Hayashi et al.
HUMAN MOLECULAR GENETICS (2017)
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease
Valentina Sardone et al.
MOLECULES (2017)
Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo
James L. Miller et al.
NEUROPHARMACOLOGY (2017)
E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia
Monica Benini et al.
CELL REPORTS (2017)
Selected missense mutations impair frataxin processing in Friedreich ataxia
Elisia Clark et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2017)
ISS-N1 MAKES THE FIRST FDA-APPROVED DRUG FOR SPINAL MUSCULAR ATROPHY
Eric W. Ottesen
TRANSLATIONAL NEUROSCIENCE (2017)
Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia
Louise A. Corben et al.
CEREBELLUM (2017)
Cytokine therapy-mediated neuroprotection in a Friedreich's ataxia mouse model
Kevin C. Kemp et al.
ANNALS OF NEUROLOGY (2017)
GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFNγ administration in FRDA patients
Christian Marcotulli et al.
NEUROLOGICAL SCIENCES (2016)
Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia
Shannon Chiang et al.
CLINICAL SCIENCE (2016)
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia
Antonio Costantini et al.
JOURNAL OF NEUROLOGY (2016)
Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy
Claudia A. Chiriboga et al.
NEUROLOGY (2016)
Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor
Yogesh K. Chutake et al.
NUCLEIC ACIDS RESEARCH (2016)
Activating frataxin expression by repeat-targeted nucleic acids
Liande Li et al.
NATURE COMMUNICATIONS (2016)
Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich's ataxia
Joseph F. Nabhan et al.
SCIENTIFIC REPORTS (2016)
Progression of Friedreich ataxia: quantitative characterization over 5 years
Maya Patel et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2016)
Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation
Arnulf H. Koeppen et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2016)
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study
Kathrin Reetz et al.
LANCET NEUROLOGY (2016)
SIRT2-and NRF2-Targeting Thiazole-Containing Compound with Therapeutic Activity in Huntington's Disease Models
Luisa Quinti et al.
CELL CHEMICAL BIOLOGY (2016)
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels
Eppie M. Yiu et al.
JOURNAL OF NEUROLOGY (2015)
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data
Kathrin Reetz et al.
LANCET NEUROLOGY (2015)
Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia
Yanjie Li et al.
MOLECULAR THERAPY (2015)
Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells
Alessandra Rufini et al.
NEUROBIOLOGY OF DISEASE (2015)
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test
Marika Pane et al.
NEUROMUSCULAR DISORDERS (2015)
Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia
Rosella Abeti et al.
PHARMACOLOGICAL RESEARCH (2015)
The Pathogenesis of Cardiomyopathy in Friedreich Ataxia
Arnulf H. Koeppen et al.
PLOS ONE (2015)
Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin
Joseph F. Nabhan et al.
SCIENTIFIC REPORTS (2015)
Open-label pilot study of interferon gamma-1b in Friedreich ataxia
L. Seyer et al.
ACTA NEUROLOGICA SCANDINAVICA (2015)
RTA 408, A Novel Synthetic Triterpenoid with Broad Anticancer and Anti-Inflammatory Activity
Brandon L. Probst et al.
PLOS ONE (2015)
IFN-γ for Friedreich ataxia: present evidence
McKenzie Wells et al.
NEURODEGENERATIVE DISEASE MANAGEMENT (2015)
Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia - open-label trial
J. Arpa et al.
ACTA NEUROLOGICA SCANDINAVICA (2014)
Epigenetic Therapy for Friedreich Ataxia
Elisabetta Soragni et al.
ANNALS OF NEUROLOGY (2014)
Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length
Wolfgang Nachbauer et al.
CEREBELLUM (2014)
Therapeutic approaches for the treatment of Friedreich's ataxia
Cassandra J. Strawser et al.
EXPERT REVIEW OF NEUROTHERAPEUTICS (2014)
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia
Sunil Sahdeo et al.
HUMAN MOLECULAR GENETICS (2014)
Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study
Vincenzo Libri et al.
LANCET (2014)
Enhancing the Delivery of Resveratrol in Humans: If Low Bioavailability is the Problem, What is the Solution?
James M. Smoliga et al.
MOLECULES (2014)
Safety and Tolerability of Carbamylated Erythropoietin in Friedreich's Ataxia
Sylvia Boesch et al.
MOVEMENT DISORDERS (2014)
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia
Morgane Perdomini et al.
NATURE MEDICINE (2014)
R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome
Matthias Groh et al.
PLOS GENETICS (2014)
An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models
Catherine Gerard et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2014)
Amelioration of Alzheimer's disease by neuroprotective effect of sulforaphane in animal model
Hyunjin Vincent Kim et al.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS (2013)
Frataxin Deficiency Leads to Defects in Expression of Antioxidants and Nrf2 Expression in Dorsal Root Ganglia of the Friedreich's Ataxia YG8R Mouse Model
Yuxi Shan et al.
ANTIOXIDANTS & REDOX SIGNALING (2013)
Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database
Guenther Metz et al.
BRAIN (2013)
Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreichs ataxia can be reduced upon HDAC inhibition by vitamin B3
Ping K. Chan et al.
HUMAN MOLECULAR GENETICS (2013)
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons
Valentina D'Oria et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2013)
Co-enzyme Q10 and idebenone use in Friedreich's ataxia
Michael H. Parkinson et al.
JOURNAL OF NEUROCHEMISTRY (2013)
Mitochondrial pathophysiology in Friedreich's ataxia
Pilar Gonzalez-Cabo et al.
JOURNAL OF NEUROCHEMISTRY (2013)
Deferiprone for the treatment of Friedreich's ataxia
Massimo Pandolfo et al.
JOURNAL OF NEUROCHEMISTRY (2013)
Clinical features of Friedreich's ataxia: classical and atypical phenotypes
Michael H. Parkinson et al.
JOURNAL OF NEUROCHEMISTRY (2013)
A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins
Pierre Chapdelaine et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2013)
Insights into the role of oxidative stress in the pathology of Friedreich ataxia using peroxidation resistant polyunsaturated fatty acids
M. Grazia Cotticelli et al.
REDOX BIOLOGY (2013)
Effect of EPI-743 on the Clinical Course of the Mitochondrial Disease Leber Hereditary Optic Neuropathy
Alfredo A. Sadun et al.
ARCHIVES OF NEUROLOGY (2012)
Tat-Frataxin protects dopaminergic neuronal cells against MPTP-induced toxicity in a mouse model of Parkinson's disease
Mi Jin Kim et al.
BIOCHIMIE (2012)
A TAT-Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model
Piyush M. Vyas et al.
HUMAN MOLECULAR GENETICS (2012)
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model
Barbara Tomassini et al.
HUMAN MOLECULAR GENETICS (2012)
Rationale for the Development of 2-Aminobenzamide Histone Deacetylase Inhibitors as Therapeutics for Friedreich Ataxia
Elisabetta Soragni et al.
JOURNAL OF CHILD NEUROLOGY (2012)
EPI-743 reverses the progression of the pediatric mitochondrial disease-Genetically defined Leigh Syndrome
Diego Martinelli et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Initial experience in the treatment of inherited mitochondrial disease with EPI-743
Gregory M. Enns et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial
Caterina Mariotti et al.
MOVEMENT DISORDERS (2012)
A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial
David R. Lynch et al.
MOVEMENT DISORDERS (2012)
Glucocorticoid Analogues: Potential Therapeutic Alternatives for Treating Inflammatory Muscle Diseases
Erica K.M. Reeves et al.
Endocrine Metabolic & Immune Disorders-Drug Targets (2012)
Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA)
Sarah J. Lagedrost et al.
AMERICAN HEART JOURNAL (2011)
PARIS (ZNF746) Repression of PGC-1α Contributes to Neurodegeneration in Parkinson's Disease
Joo-Ho Shin et al.
CELL (2011)
Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich's Ataxia
Daniel Velasco-Sanchez et al.
CEREBELLUM (2011)
Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia - a Dose-Response Trial
Wolfgang Nachbauer et al.
CEREBELLUM (2011)
Infectious delivery and long-term persistence of transgene expression in the brain by a 135-kb iBAC-FXN genomic DNA expression vector
A. Gimenez-Cassina et al.
GENE THERAPY (2011)
Mortality in Friedreich Ataxia
Amy Y. Tsou et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)
Epoetin Alfa Increases Frataxin Production in Friedreich's Ataxia Without Affecting Hematocrit
Francesco Sacca et al.
MOVEMENT DISORDERS (2011)
Isotopic reinforcement of essential polyunsaturated fatty acids diminishes nigrostriatal degeneration in a mouse model of Parkinson's disease
Mikhail S. Shchepinov et al.
TOXICOLOGY LETTERS (2011)
A Phase 3, Double-blind, Placebo-Controlled Trial of Idebenone in Friedreich Ataxia
David R. Lynch et al.
ARCHIVES OF NEUROLOGY (2010)
Measuring the Rate of Progression in Friedreich Ataxia: Implications for Clinical Trial Design
Lisa S. Friedman et al.
MOVEMENT DISORDERS (2010)
PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia
Daniele Marmolino et al.
PLOS ONE (2010)
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich's ataxia
Giovanni Coppola et al.
HUMAN MOLECULAR GENETICS (2009)
Indole-3-Propionic Acid Attenuates Neuronal Damage and Oxidative Stress in the Ischemic Hippocampus
In Koo Hwang et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2009)
Comparison of Three Clinical Rating Scales In Friedreich Ataxia (FRDA)
Katrin Buerk et al.
MOVEMENT DISORDERS (2009)
Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia
Vincent Paupe et al.
PLOS ONE (2009)
Nrf2-mediated neuroprotection in the MPTP mouse model of Parkinson's disease: Critical role for the astrocyte
Pei-Chun Chen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up
Merce Pineda et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2008)
Antioxidant use in Friedreich ataxia
Lauren Myers et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2008)
Neurological Effects of Recombinant Human Erythropoietin in Friedreich's Ataxia: A Clinical Pilot Trial
Sylvia Boesch et al.
MOVEMENT DISORDERS (2008)
HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model
Myriam Rai et al.
PLOS ONE (2008)
Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector
Filip Lim et al.
MOLECULAR THERAPY (2007)
Infectious delivery and expression of a 135 kb human FRDA genomic DNA locus complements Friedreich's ataxia deficiency in human cells
Silvia Gomez-Sebastian et al.
MOLECULAR THERAPY (2007)
Measuring Friedreich ataxia - Complementary features of examination and performance measures
DR Lynch et al.
NEUROLOGY (2006)
Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia
Susan Michael et al.
CEREBELLUM (2006)
Recombinant human erythropoietin:: effects on frataxin expression in vitro
B Sturm et al.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION (2005)
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
SH Subramony et al.
NEUROLOGY (2005)
Antioxidant treatment of patients with Friedreich ataxia - Four-year follow-up
PE Hart et al.
ARCHIVES OF NEUROLOGY (2005)
Frataxin overexpressing mice
CJ Miranda et al.
FEBS LETTERS (2004)
Idebenone treatment in Friedreich's ataxia
G Buyse et al.
NEUROLOGY (2003)
Friedreich's Ataxia: Disease mechanisms, antioxidant and coenzyme Q(10) therapy
JM Cooper et al.
BIOFACTORS (2003)
Development of indole-3-propionic acid (OXIGON™) for Alzheimer's disease
PE Bendheim et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2002)
Friedreich's ataxia:: Idebenone treatment in early stage patients
R Artuch et al.
NEUROPEDIATRICS (2002)
Friedreich ataxia - Effects of genetic understanding on clinical evaluation and therapy
DR Lynch et al.
ARCHIVES OF NEUROLOGY (2002)
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia
AO Hausse et al.
HEART (2002)
Desferrioxamine-chelatable iron, a component of serum non-transferrin-bound iron, used for assessing chelation therapy
W Breuer et al.
BLOOD (2001)
Share Paper
