Johnathan Cooper‐Knock

United Kingdom

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Articles (27)

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2025

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2022

Collaborators (33)

Pamela Shaw

University of Sheffield

UNITED KINGDOM

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Kriti Gupta

University of Glasgow

UNITED KINGDOM

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Esther Hobson

Senior clinical lecturer

University of Sheffield

UNITED KINGDOM

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Ian Blair

Macquarie University

AUSTRALIA

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Kurt De Vos

Professor of Molecular and Cellular Neuroscience

University of Sheffield

UNITED KINGDOM

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Heather Mortiboys

Professor of Cellular Neuroscience and Metabolism

University of Sheffield

UNITED KINGDOM

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John Quinn

Professor

University of Liverpool

UNITED KINGDOM

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Ahmad Al Khleifat

King’s College London

UNITED KINGDOM

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Laura Ferraiuolo

Associate Professor

University of Sheffield

UNITED KINGDOM

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Marleen Balvert

Associate Professor

Tilburg University

NETHERLANDS

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richard dobson

King’s College London

UNITED KINGDOM

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Jennifer Fifita

Macquarie University

AUSTRALIA

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Thomas Julian

The University of Manchester

UNITED KINGDOM

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philippe corcia

Professeur

Université François-Rabelais

FRANCE

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Michael Sendtner

Professor for Clinical Neurobiology

University of Würzburg

GERMANY

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Victoria López Alonso

Head of the Unit

Instituto de Salud Carlos III

SPAIN

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Cyril Dominguez

Associate professor

University of Leicester

UNITED KINGDOM

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James Alix

Senior Clinical Lecturer

University of Sheffield

UNITED KINGDOM

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Margaret E Flanagan

UNITED STATES

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Alexandru I. Tomescu

University of Helsinki

FINLAND

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Santosh Kumar Upadhyay

University of Leicester

UNITED KINGDOM

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Delphine Boche

University of Southampton

UNITED KINGDOM

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Mimoun Azzouz

University of Sheffield

UNITED KINGDOM

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Alexander Schönhuth

Bielefeld University

GERMANY

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Lyle Ostrow

Associate Professor

Temple University

UNITED STATES

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Emily McCann

Macquarie University

AUSTRALIA

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Lyndal Henden

Macquarie University

AUSTRALIA

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Karri Kaivola

University of Helsinki

FINLAND

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Guillaume M. Hautbergue

University of Sheffield

UNITED KINGDOM

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Alfredo Iacoangeli

King’s College London

UNITED KINGDOM

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Mark Collins

University of Sheffield

UNITED KINGDOM

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Hui Guo

Reader in Biostatistics

The University of Manchester

UNITED KINGDOM

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Liisa Myllykangas

University of Helsinki

FINLAND

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Johnathan Cooper‐Knock

Research Interests

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Articles (27)

An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2

Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications

Guidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD

Human amyotrophic lateral sclerosis/motor neuron disease: The disease‐associated microglial pathway is upregulated while APOE genotype governs risk and survival

A single-cell, long-read, isoform-resolved case-control study of FTD reveals cell-type-specific and broad splicing dysregulation in human brain

SpliPath enhances disease gene discovery in case-control analyses of rare splice-altering genetic variants.

Single-cell polygenic risk scores dissect cellular and molecular heterogeneity of complex human diseases

Genetic analysis of congenital and adult-onset lactose intolerance points to anti-inflammatory effects of dairy products

Extreme exercise in males is linked to mTOR signalling and onset of amyotrophic lateral sclerosis

A bacterial artificial chromosome mouse model of amyotrophic lateral sclerosis manifests ‘space cadet syndrome’ on two FVB backgrounds

Mendelian Randomization Study With Clinical Follow‐Up Links Metabolites to Risk and Severity of Pulmonary Arterial Hypertension

Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis

Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS

Computing linkage disequilibrium aware genome embeddings using autoencoders

Physical Activity as a Risk Factor for Amyotrophic Lateral Sclerosis

Non-coding genome contribution to ALS

A cell-penetrant peptide blocking C9ORF72 -repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins

Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration

Clinical testing panels for ALS

Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication

Physical activity as an exogenous risk factor for amyotrophic lateral sclerosis: a review of the evidence

Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP

Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study

A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias

Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

Collaborators (33)

Pamela Shaw

Kriti Gupta

Esther Hobson

Ian Blair

Kurt De Vos

Heather Mortiboys

John Quinn

Ahmad Al Khleifat

Laura Ferraiuolo

Marleen Balvert

richard dobson

Jennifer Fifita

Thomas Julian

philippe corcia

Michael Sendtner

Victoria López Alonso

Cyril Dominguez

James Alix

Margaret E Flanagan

Alexandru I. Tomescu

Santosh Kumar Upadhyay

Delphine Boche

Mimoun Azzouz

Alexander Schönhuth

Lyle Ostrow

Emily McCann

Lyndal Henden

Karri Kaivola

Guillaume M. Hautbergue

Alfredo Iacoangeli

Mark Collins

Hui Guo

Liisa Myllykangas

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