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List of works by Christopher Shaw

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

scientific article published on 01 October 2018

ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS

scientific article published on 12 September 2018

ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

scientific article published on 18 October 2018

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

scientific article published on 19 May 2020

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

scientific article

Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells

scientific article

Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria ⬇️

scientific article published on January 17, 2012

Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson's disease brain

scientific article published on 19 May 2017

Association study on glutathione S-transferase omega 1 and 2 and familial ALS.

scientific article

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

scientific article

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

scientific article published on 13 September 2017

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

scientific article published on 01 March 2020

Capturing VCP: Another Molecular Piece in the ALS Jigsaw Puzzle ⬇️

scientific article published on December 9, 2010

Chapter 14 Familial amyotrophic lateral sclerosis

scientific article published on 01 January 2007

Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

article

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype

scientific article published in December 2002

Drosophila TDP-43 dysfunction in glia and muscle cells cause cytological and behavioural phenotypes that characterize ALS and FTLD ⬇️

scientific article published on May 31, 2013

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

article

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability

scientific article

Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice

scientific article published on 28 November 2017

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

scientific article

Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies

scientific article published on 07 March 2019

Objectively Monitoring Amyotrophic Lateral Sclerosis Patient Symptoms During Clinical Trials With Sensors: Observational Study

scientific article published on 20 December 2019

Predicting the future of ALS: the impact of demographic change and potential new treatments on the prevalence of ALS in the United Kingdom, 2020-2116

scientific article published on 09 April 2019

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

RNA Misprocessing in C9orf72-Linked Neurodegeneration

scientific article published on 11 July 2017

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

scientific article published on 28 January 2022

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

scientific article

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

scientific article

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The use of biotelemetry to explore disease progression markers in amyotrophic lateral sclerosis

scientific article published on 23 June 2020

Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

scientific article published on 30 September 2018

pNfH is a promising biomarker for ALS ⬇️

scientific article published on October 22, 2012

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