List of works - Adrian M Isaacs

A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies

scientific article

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

scientific article published on 29 January 2008

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

scientific article published on 18 November 2021

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

scientific article published on 07 August 2014

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

scientific article published on 22 October 2007

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

scientific article

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

scientific article

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

scientific article

G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.

scientific article published on 7 November 2017

Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain

scientific article published on 16 December 2019

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

scientific article published on 21 February 2013

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

scientific article

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

scientific article published in 2024

Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation

scientific article published on 7 February 2009

Progranulin and TMEM106B: when two become wan

scientific article published on 28 September 2020

Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster.

scientific article

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

scientific article published on 29 July 2019

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

scientific article

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

scientific article published on 12 December 2019

The clinical and neuroanatomical phenotype of FUS associated frontotemporal lobar degeneration

scientific article published on 16 July 2010

Very early-onset frontotemporal dementia with no family history predicts underlying fused in sarcoma pathology

scientific article

List of works by Adrian M Isaacs

A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

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

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.

Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

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

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

Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation

Progranulin and TMEM106B: when two become wan

Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster.

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

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

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

The clinical and neuroanatomical phenotype of FUS associated frontotemporal lobar degeneration

Very early-onset frontotemporal dementia with no family history predicts underlying fused in sarcoma pathology