Dipeptide repeat (DPR) pathology in the skeletal muscle of ALS patients with C9ORF72 repeat expansion
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Title
Dipeptide repeat (DPR) pathology in the skeletal muscle of ALS patients with C9ORF72 repeat expansion
Authors
Keywords
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Journal
ACTA NEUROPATHOLOGICA
Volume 138, Issue 4, Pages 667-670
Publisher
Springer Science and Business Media LLC
Online
2019-08-03
DOI
10.1007/s00401-019-02050-8
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Note: Only part of the references are listed.- A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism
- (2018) Bart Swinnen et al. ACTA NEUROPATHOLOGICA
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- Phosphorylated TDP-43 (pTDP-43) aggregates in the axial skeletal muscle of patients with sporadic and familial amyotrophic lateral sclerosis
- (2018) Matthew D. Cykowski et al. Acta Neuropathologica Communications
- Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features
- (2018) Matthew P. Shaw et al. Acta Neuropathologica Communications
- The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD
- (2017) Brian D. Freibaum et al. Frontiers in Molecular Neuroscience
- Decoding ALS: from genes to mechanism
- (2016) J. Paul Taylor et al. NATURE
- Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs
- (2016) Jie Jiang et al. NEURON
- A Novel Protocol for Directed Differentiation of C9orf72-Associated Human Induced Pluripotent Stem Cells Into Contractile Skeletal Myotubes
- (2016) Elliot W. Swartz et al. Stem Cells Translational Medicine
- Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers
- (2015) Ian R. A. Mackenzie et al. ACTA NEUROPATHOLOGICA
- Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing
- (2015) Martin H. Schludi et al. ACTA NEUROPATHOLOGICA
- Emerging mechanisms of molecular pathology in ALS
- (2015) Owen M. Peters et al. JOURNAL OF CLINICAL INVESTIGATION
- GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
- (2015) Brian D. Freibaum et al. NATURE
- Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration
- (2015) Jorge Gomez-Deza et al. Acta Neuropathologica Communications
- C9ORF72-ALS: P62- and ubiquitin-aggregation pathology in skeletal muscle
- (2014) Matthias Türk et al. MUSCLE & NERVE
- Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
- (2013) Peter E.A. Ash et al. NEURON
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