Lista de obras - Johnathan Cooper-Knock - Dominio Público Uruguay

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

artículo científico publicado en 2017

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.

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico

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

artículo científico

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration

artículo científico publicado en 2019

Early Diagnosis of Horner Syndrome Using Topical Apraclonidine

artículo científico publicado en 2011

Gamma-synuclein pathology in amyotrophic lateral sclerosis

artículo científico publicado en 2014

Gene expression profiling in human neurodegenerative disease

artículo científico publicado en 2012

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2022

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

scientific article published on 07 August 2018

Lista de obras de 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