List of works - Johnathan Cooper-Knock

A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis

scientific article

Age-Associated mRNA and miRNA Expression Changes in the Blood-Brain Barrier

scientific article published on 25 June 2019

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

scientific article published on 6 May 2015

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scientific article

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

scientific article published on 27 May 2015

C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

scientific article published on 24 July 2013

C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten

scientific article

C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population

scientific article published on 09 July 2015

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

scientific article published on 09 October 2013

Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis

scientific article published on 20 April 2016

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

scientific article published on March 2012

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

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis

scientific article

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.

scientific article published on 20 October 2012

Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis.

scientific article published on 4 January 2013

Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration

scientific article published on 14 November 2019

Early Diagnosis of Horner Syndrome Using Topical Apraclonidine

scientific article published in September 2011

Gamma-synuclein pathology in amyotrophic lateral sclerosis

scientific article

Gene expression profiling in human neurodegenerative disease

scientific article published on 14 August 2012

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology

scientific article published in December 2014

Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.

scientific article

Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.

scientific article

Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions.

scientific article published on 11 June 2015

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

scientific article published on 01 February 2019

Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.

scientific article published on 24 August 2015

Pulsatile exposure to simulated reflux leads to changes in gene expression in a 3D model of oesophageal mucosa.

scientific article published on 8 April 2014

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

scientific article published on 12 April 2013

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

scientific article

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

scientific article

Simultaneous ALS and SCA2 associated with an intermediate-length <i>ATXN2</i> CAG-repeat expansion

scientific article published on 07 December 2020

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

scientific article

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

scientific article published on 28 January 2022

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

scientific article published on 19 January 2014

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype

scientific article published on 9 November 2017

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

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

scientific article published on April 2015

The use of subcutaneous glycopyrrolate in the management of sialorrhoea and facilitating the use of non-invasive ventilation in amyotrophic lateral sclerosis

scientific article published on 09 May 2011

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

scientific article

Transcriptomic Analysis of Age-Associated Periventricular Lesions Reveals Dysregulation of the Immune Response

scientific article published on 25 October 2020

Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East

scientific article published on 07 August 2018

List of works by Johnathan Cooper-Knock

A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis

Age-Associated mRNA and miRNA Expression Changes in the Blood-Brain Barrier

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten

C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

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

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.

Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis.

Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration

Early Diagnosis of Horner Syndrome Using Topical Apraclonidine

Gamma-synuclein pathology in amyotrophic lateral sclerosis

Gene expression profiling in human neurodegenerative disease

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology

Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.

Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.

Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions.

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.

Pulsatile exposure to simulated reflux leads to changes in gene expression in a 3D model of oesophageal mucosa.

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

Simultaneous ALS and SCA2 associated with an intermediate-length <i>ATXN2</i> CAG-repeat expansion

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

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

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype

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

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

The use of subcutaneous glycopyrrolate in the management of sialorrhoea and facilitating the use of non-invasive ventilation in amyotrophic lateral sclerosis

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

Transcriptomic Analysis of Age-Associated Periventricular Lesions Reveals Dysregulation of the Immune Response

Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East