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Etravirine in Friedreich's ataxia: Lessons from HIV?
- Published in:
- 2019
- By:
- Publication type:
- editorial
Common data elements for clinical research in Friedreich's ataxia.
- Published in:
- Movement Disorders, 2013, v. 28, n. 2, p. 190, doi. 10.1002/mds.25201
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- Publication type:
- Article
A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial.
- Published in:
- Movement Disorders, 2012, v. 27, n. 8, p. 1026, doi. 10.1002/mds.25058
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- Publication type:
- Article
Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design.
- Published in:
- Movement Disorders, 2010, v. 25, n. 4, p. 426, doi. 10.1002/mds.22912
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- Publication type:
- Article
Clinical measures of dysarthria in Friedreich Ataxia.
- Published in:
- Movement Disorders, 2010, v. 25, n. 1, p. 108, doi. 10.1002/mds.22776
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- Publication type:
- Article
Urinary isoprostanes in Friedreich ataxia: Lack of correlation with disease features.
- Published in:
- Movement Disorders, 2008, v. 23, n. 13, p. 1920, doi. 10.1002/mds.22038
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- Publication type:
- Article
Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
- Published in:
- Movement Disorders, 2008, v. 23, n. 9, p. 1303, doi. 10.1002/mds.22012
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- Publication type:
- Article
Performance measures in Friedreich ataxia: Potential utility as clinical outcome tools.
- Published in:
- Movement Disorders, 2005, v. 20, n. 7, p. 777, doi. 10.1002/mds.20449
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- Publication type:
- Article
Lack of effect of polymorphisms in dopamine metabolism related genes on imaging of TRODAT-1 in striatum of asymptomatic volunteers and patients with Parkinson's disease.
- Published in:
- 2003
- By:
- Publication type:
- journal article
The Regulation of the Disease-Causing Gene FXN.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 12, p. 1040, doi. 10.3390/cells13121040
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- Publication type:
- Article
A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models.
- Published in:
- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1352311
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- Publication type:
- Article
Low apolipoprotein A-I levels in Friedreich’s ataxia and in frataxin-deficient cells: Implications for therapy.
- Published in:
- PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0192779
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- Publication type:
- Article
Somatic instability of the expanded GAA repeats in Friedreich’s ataxia.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189990
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- Publication type:
- Article
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 6, p. 397, doi. 10.1177/0883073818764941
- By:
- Publication type:
- Article
Anti-NMDA Receptor Encephalitis Antibody Binding Is Dependent on Amino Acid Identity of a Small Region within the GluNl Amino Terminal Domain.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 32, p. 11082, doi. 10.1523/JNEUROSCI.0064-12.2012
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- Publication type:
- Article
miR-886-3p Levels Are Elevated in Friedreich Ataxia.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 27, p. 9369, doi. 10.1523/JNEUROSCI.0059-12.2012
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- Publication type:
- Article
Cellular and Synaptic Mechanisms of Anti-NMDA Receptor Encephalitis.
- Published in:
- Journal of Neuroscience, 2010, v. 30, n. 17, p. 5866, doi. 10.1523/JNEUROSCI.0167-10.2010
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- Publication type:
- Article
E2F1 in neurons is cleaved by calpain in an NMDA receptor-dependent manner in a model of HIV-induced neurotoxicity.
- Published in:
- Journal of Neurochemistry, 2015, v. 132, n. 6, p. 742, doi. 10.1111/jnc.12956
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- Publication type:
- Article
NMDA receptor modulation by the neuropeptide apelin: implications for excitotoxic injury.
- Published in:
- Journal of Neurochemistry, 2011, v. 118, n. 6, p. 1113, doi. 10.1111/j.1471-4159.2011.07383.x
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- Publication type:
- Article
Apelin, an endogenous neuronal peptide, protects hippocampal neurons against excitotoxic injury.
- Published in:
- Journal of Neurochemistry, 2007, v. 102, n. 6, p. 1905, doi. 10.1111/j.1471-4159.2007.04645.x
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- Publication type:
- Article
Developmental and cell-selective variations in N-methyl-d-aspartate receptor degradation by calpain.
- Published in:
- Journal of Neurochemistry, 2006, v. 99, n. 1, p. 206, doi. 10.1111/j.1471-4159.2006.04096.x
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- Publication type:
- Article
Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.
- Published in:
- Molecular Therapy, 2015, v. 23, n. 6, p. 1055, doi. 10.1038/mt.2015.41
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- Publication type:
- Article
Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35346-y
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- Publication type:
- Article
Friedreich Ataxia: Multidisciplinary Clinical Care.
- Published in:
- Journal of Multidisciplinary Healthcare, 2021, v. 14, p. 1645, doi. 10.2147/JMDH.S292945
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- Publication type:
- Article
Autoimmune 'secondary synaptopathies': do NMDAR antibodies cause a primary extra-synaptopathy?
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2601, doi. 10.1093/brain/awae236
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- Publication type:
- Article
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
- Published in:
- Annals of Neurology, 2021, v. 89, n. 2, p. 212, doi. 10.1002/ana.25934
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- Publication type:
- Article
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Friedreich Ataxia: New findings, new challenges.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 4, p. 487, doi. 10.1002/ana.24259
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- Publication type:
- Article
A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia Patients.
- Published in:
- Molecular Neurobiology, 2020, v. 57, n. 6, p. 2639, doi. 10.1007/s12035-020-01899-1
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- Publication type:
- Article
Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich's ataxia.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 9, p. 1845, doi. 10.1002/acn3.51438
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- Publication type:
- Article
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 6, p. 1239, doi. 10.1002/acn3.51352
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- Publication type:
- Article
Test–retest reliability of the Friedreich's ataxia rating scale.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1708, doi. 10.1002/acn3.51118
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- Publication type:
- Article
Identification of a novel missense mutation in Friedreich's ataxia –FXN<sup>W</sup><sup>168R</sup>.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 4, p. 812, doi. 10.1002/acn3.728
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- Publication type:
- Article
Randomized, double‐blind, placebo‐controlled study of interferon‐γ 1b in Friedreich Ataxia.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 546, doi. 10.1002/acn3.731
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- Publication type:
- Article
Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 15, doi. 10.1002/acn3.660
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- Publication type:
- Article
Monoclonal antibodies from a patient with anti‐NMDA receptor encephalitis.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 8, p. 935, doi. 10.1002/acn3.592
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- Publication type:
- Article
Impact of diabetes in the Friedreich ataxia clinical outcome measures study.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 9, p. 622, doi. 10.1002/acn3.439
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- Publication type:
- Article
Selected missense mutations impair frataxin processing in Friedreich ataxia.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 8, p. 575, doi. 10.1002/acn3.433
- By:
- Publication type:
- Article
Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 7, p. 523, doi. 10.1002/acn3.322
- By:
- Publication type:
- Article
Frataxin levels in peripheral tissue in Friedreich ataxia.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 831, doi. 10.1002/acn3.225
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- Publication type:
- Article
Pediatric anti- NMDA receptor encephalitis is seasonal.
- Published in:
- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 11, p. 921, doi. 10.1002/acn3.100
- By:
- Publication type:
- Article
Distinct cleavage patterns of normal and pathologic forms of α-synuclein by calpain I in vitro.
- Published in:
- Journal of Neurochemistry, 2003, v. 86, n. 4, p. 836, doi. 10.1046/j.1471-4159.2003.01878.x
- By:
- Publication type:
- Article
Modulation of the N-Methyl- d-Aspartate Receptor by Haloperidol: NR2B-Specific Interactions.
- Published in:
- Journal of Neurochemistry, 1998, v. 70, n. 5, p. 2120, doi. 10.1046/j.1471-4159.1998.70052120.x
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- Publication type:
- Article
Characterization of Glutamate Binding Sites in Receptors Assembled from Transfected NMDA Receptor Subunits.
- Published in:
- Journal of Neurochemistry, 1996, v. 67, n. 2, p. 608, doi. 10.1046/j.1471-4159.1996.67020608.x
- By:
- Publication type:
- Article
Transfection of N-Methyl- d-Aspartate Receptors in a Nonneuronal Cell Line Leads to Cell Death.
- Published in:
- Journal of Neurochemistry, 1995, v. 64, n. 5, p. 2004, doi. 10.1046/j.1471-4159.1995.64052004.x
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- Publication type:
- Article
Pharmacological Characterization of Heterodimeric NMDA Receptors Composed of NR 1a and 2B Subunits: Differences with Receptors Formed from NR 1a and 2A.
- Published in:
- Journal of Neurochemistry, 1995, v. 64, n. 4, p. 1462, doi. 10.1046/j.1471-4159.1995.64041462.x
- By:
- Publication type:
- Article
D-Serine and Serine Racemase Are Associated with PSD-95 and Glutamatergic Synapse Stability.
- Published in:
- Frontiers in Cellular Neuroscience, 2016, p. 1, doi. 10.3389/fncel.2016.00034
- By:
- Publication type:
- Article
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 4, p. 1844, doi. 10.1007/s00415-023-12118-x
- By:
- Publication type:
- Article
Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 3, p. 1615, doi. 10.1007/s00415-022-11501-4
- By:
- Publication type:
- Article
SARS-CoV-2 in patients with Friedreich ataxia.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 2, p. 610, doi. 10.1007/s00415-022-11419-x
- By:
- Publication type:
- Article