Dipeptide repeat (DPR) pathology in the skeletal muscle of ALS patients with C9ORF72 repeat expansion

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

(2018) Bart Swinnen et al.   ACTA NEUROPATHOLOGICA

Perineurial-like Cells and EMA Expression in the Suprachoroidal Region of the Human Eye

(2018) Andrea R. Gilbert et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

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