Lista de obras -

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2021

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

artículo científico publicado en 2011

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2024

Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation

artículo científico publicado en 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.

artículo científico publicado en 2016

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.

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Lista de obras de

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