Adrian M. Isaacs

Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeutics

The Neurolipid Atlas: a lipidomics resource for neurodegenerative diseases

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons

Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids

G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons

C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation

Humoral response to neurofilaments and dipeptide repeats in ALS progression

FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention

C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A

Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity

TDP-43 extracted from frontotemporal lobar degeneration subject brains displays distinct aggregate assemblies and neurotoxic effects reflecting disease progression rates

Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

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

Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using <i>Drosophila melanogaster</i>

Quantitative assessment of eye phenotypes for functional genetic studies using <i>Drosophila melanogaster</i>