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Search Results to David Lynch

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One or more keywords matched the following items that are connected to Lynch, David

Item TypeName
Concept Iron-Binding Proteins
Academic Article FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
Academic Article Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.
Academic Article Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design.
Academic Article HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.
Academic Article Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Academic Article Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
Academic Article miR-886-3p levels are elevated in Friedreich ataxia.
Academic Article Cross-sectional analysis of glucose metabolism in Friedreich ataxia.
Academic Article Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia.
Academic Article Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example.
Academic Article Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
Academic Article Somatic instability of the expanded GAA repeats in Friedreich's ataxia.
Academic Article Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia.
Academic Article Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes.
Academic Article Evaluation of antibodies for western blot analysis of frataxin protein isoforms.
Academic Article Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma.
Academic Article Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function.
Academic Article A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.
Academic Article Novel diagnostic paradigms for Friedreich ataxia.
Academic Article Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia.
Academic Article Unanswered questions in Friedreich ataxia.
Academic Article Randomized, double-blind, placebo-controlled study of interferon-? 1b in Friedreich Ataxia.
Academic Article Effects of genetic severity on glucose homeostasis in Friedreich ataxia.
Academic Article Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy.
Academic Article Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia.
Academic Article Reverse Phase Protein Array Reveals Correlation of Retinoic Acid Metabolism With Cardiomyopathy in Friedreich's Ataxia.
Academic Article Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression.
Academic Article A Novel Metric for Predicting Severity of Disease Features in Friedreich's Ataxia.
Academic Article Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.

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  • Iron Binding Proteins

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