Michael Orth
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View article: Posttranscriptional regulation of <i>FAN1</i> by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington’s disease
Posttranscriptional regulation of <i>FAN1</i> by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington’s disease Open
Many Mendelian disorders, such as Huntington’s disease (HD) and spinocerebellar ataxias, arise from expansions of CAG trinucleotide repeats. Despite the clear genetic causes, additional genetic factors may influence the rate of those monog…
View article: Safety and efficacy of laquinimod for Huntington's disease (LEGATO-HD): a multicentre, randomised, double-blind, placebo-controlled, phase 2 study
Safety and efficacy of laquinimod for Huntington's disease (LEGATO-HD): a multicentre, randomised, double-blind, placebo-controlled, phase 2 study Open
View article: Huntington’s disease affects mitochondrial network dynamics predisposing to pathogenic mitochondrial DNA mutations
Huntington’s disease affects mitochondrial network dynamics predisposing to pathogenic mitochondrial DNA mutations Open
Huntington’s disease (HD) predominantly affects the brain, causing a mixed movement disorder, cognitive decline and behavioural abnormalities. It also causes a peripheral phenotype involving skeletal muscle. Mitochondrial dysfunction has b…
View article: Huntington disease alters the actionable information in plasma extracellular vesicles
Huntington disease alters the actionable information in plasma extracellular vesicles Open
Dear Editor, In the present study, we demonstrate that examining extracellular vesicles (EVs) can give new insights into pathologic mechanisms in Huntington disease (HD), and might be used as biomarkers. We generated multi-omics datasets u…
View article: Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
View article: Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1 Open
Huntington’s disease is caused by an expanded CAG tract in HTT . The length of the CAG tract accounts for over half the variance in age at onset of disease, and is influenced by other genetic factors, mostly implicating the DNA maintenance…
View article: Cerebellar noninvasive neuromodulation influences the reactivity of the contralateral primary motor cortex and surrounding areas: a TMS-EMG-EEG study
Cerebellar noninvasive neuromodulation influences the reactivity of the contralateral primary motor cortex and surrounding areas: a TMS-EMG-EEG study Open
View article: Genetic modifiers of Huntington disease differentially influence motor and cognitive domains
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains Open
View article: Abnormal molecular signatures of inflammation, energy metabolism and vesicle biology in human Huntington disease peripheral tissues
Abnormal molecular signatures of inflammation, energy metabolism and vesicle biology in human Huntington disease peripheral tissues Open
Background A major challenge in neurodegenerative diseases concerns identifying biological disease signatures that track with disease progression or respond to an intervention. Several clinical trials in Huntington disease (HD), an inherit…
View article: Genetic modifiers of Huntington’s disease differentially influence motor and cognitive domains
Genetic modifiers of Huntington’s disease differentially influence motor and cognitive domains Open
Genome-wide association studies (GWAS) of Huntington’s disease (HD) have identified six DNA maintenance gene loci (among others) as modifiers and implicated a two step-mechanism of pathogenesis: somatic instability of the causative HTT CAG…
View article: Additional file 6 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 6 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 6. RNAseq fibroblasts data file; Outliers removed and normalized counts.
View article: Additional file 2 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 2 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 2. RNAseq adipose data file; Outliers removed and normalized counts.
View article: Additional file 19 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 19 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 19. Proteomics skin protein analysis file; ROTS analysis results.
View article: Additional file 1 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 1 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 1. Metadata; All identifiers and demographic and clinical data.
View article: Additional file 16 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 16 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 16. Proteomics muscle analysis file; ROTS analysis results.
View article: Additional file 5 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 5 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 5. RNAseq muscle analysis file; DESeq2 analysis results.
View article: Additional file 9 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 9 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 9. Proteomics adipose protein datafile; Normalized LFQ values.
View article: Additional file 10 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 10 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 10. Proteomics muscle peptide datafile; Normalized LFQ values.
View article: Additional file 14 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 14 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 14. Proteomics adipose analysis file; ROTS analysis results.
View article: Additional file 8 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 8 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 8. Proteomics adipose peptide datafile; Normalized LFQ values.
View article: Additional file 17 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 17 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 17. Proteomics muscle analysis file; ROTS analysis results.
View article: Additional file 4 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 4 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 4. RNAseq adipose analysis file; DESeq2 analysis results.
View article: Additional file 13 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 13 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 13. Proteomics skin protein datafile; Normalized LFQ values.
View article: Additional file 12 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 12 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 12. Proteomics skin peptide datafile; Normalized LFQ values.
View article: Additional file 15 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 15 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 15. Proteomics adipose analysis file; ROTS analysis results.
View article: Additional file 11 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 11 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 11. Proteomics muscle protein datafile; Normalized LFQ values.
View article: Additional file 21 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 21 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 21. HD haplotype definitions; Novel HD haplotype definitions.
View article: Additional file 7 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 7 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 7. RNAseq fibroblasts analysis file; DESeq2 analysis results.
View article: Additional file 3 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 3 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 3. RNAseq muscle data file; Outliers removed and normalized counts.
View article: Additional file 18 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues
Additional file 18 of Abnormal molecular signatures of inflammation, energy metabolism, and vesicle biology in human Huntington disease peripheral tissues Open
Additional file 18. Proteomics skin peptide analysis file; ROTS analysis results.