Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics

por Heath, Paul R., Kirby, Janine, Shaw, Pamela J.
Publicado 2013

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

por Cooper-Knock, Johnathan, Shaw, Pamela J., Kirby, Janine
Publicado 2014

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

por Cooper-Knock, Johnathan, Kirby, Janine, Highley, Robin, Shaw, Pamela J.
Publicado 2015

The genetics of amyotrophic lateral sclerosis: current insights

por Alsultan, Afnan A, Waller, Rachel, Heath, Paul R, Kirby, Janine
Publicado 2016

Neuronal dark matter: the emerging role of microRNAs in neurodegeneration

por Goodall, Emily F., Heath, Paul R., Bandmann, Oliver, Kirby, Janine, Shaw, Pamela J.
Publicado 2013

Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia

por Ranganathan, Ramya, Haque, Shaila, Coley, Kayesha, Shepheard, Stephanie, Cooper-Knock, Johnathan, Kirby, Janine
Publicado 2020

Small RNA Sequencing of Sporadic Amyotrophic Lateral Sclerosis Cerebrospinal Fluid Reveals Differentially Expressed miRNAs Related to Neural and Glial Activity

por Waller, Rachel, Wyles, Matthew, Heath, Paul R., Kazoka, Mbombe, Wollff, Helen, Shaw, Pamela J., Kirby, Janine
Publicado 2018

Comparison of Blood RNA Extraction Methods Used for Gene Expression Profiling in Amyotrophic Lateral Sclerosis

por Bayatti, Nadhim, Cooper-Knock, Johnathan, Bury, Joanna J., Wyles, Matthew, Heath, Paul R., Kirby, Janine, Shaw, Pamela J.
Publicado 2014

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

por Buchman, Vladimir L, Cooper-Knock, Johnathan, Connor-Robson, Natalie, Higginbottom, Adrian, Kirby, Janine, Razinskaya, Olga D, Ninkina, Natalia, Shaw, Pamela J
Publicado 2013

Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 (G93A) mouse model of amyotrophic lateral sclerosis

por Baker, David J., Blackburn, Daniel J., Keatinge, Marcus, Sokhi, Dilraj, Viskaitis, Paulius, Heath, Paul R., Ferraiuolo, Laura, Kirby, Janine, Shaw, Pamela J.
Publicado 2015

Dipeptide Repeat Pathology in C9orf72-ALS Is Associated with Redox, Mitochondrial and NRF2 Pathway Imbalance

por Jiménez-Villegas, José, Kirby, Janine, Mata, Ana, Cadenas, Susana, Turner, Martin R., Malaspina, Andrea, Shaw, Pamela J., Cuadrado, Antonio, Rojo, Ana I.
Publicado 2022

Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased s...

por Brockington, Alice, Ning, Ke, Heath, Paul R., Wood, Elizabeth, Kirby, Janine, Fusi, Nicolò, Lawrence, Neil, Wharton, Stephen B., Ince, Paul G., Shaw, Pamela J.
Publicado 2012

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

por Cooper-Knock, Johnathan, Bury, Joanna J., Heath, Paul R, Wyles, Matthew, Higginbottom, Adrian, Gelsthorpe, Catherine, Highley, J. Robin, Hautbergue, Guillaume, Rattray, Magnus, Kirby, Janine, Shaw, Pamela J.
Publicado 2015

Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS)

por Waller, Rachel, Goodall, Emily F., Milo, Marta, Cooper-Knock, Jonathan, Da Costa, Marc, Hobson, Esther, Kazoka, Mbombe, Wollff, Helen, Heath, Paul R., Shaw, Pamela J., Kirby, Janine
Publicado 2017

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

por Cooper-Knock, Johnathan, Higginbottom, Adrian, Stopford, Matthew J., Highley, J. Robin, Ince, Paul G., Wharton, Stephen B., Pickering-Brown, Stuart, Kirby, Janine, Hautbergue, Guillaume M., Shaw, Pamela J.
Publicado 2015

Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis

por Kirby, Janine, Ning, Ke, Ferraiuolo, Laura, Heath, Paul R., Ismail, Azza, Kuo, Su-Wei, Valori, Chiara F., Cox, Laura, Sharrack, Basil, Wharton, Stephen B., Ince, Paul G., Shaw, Pamela J., Azzouz, Mimoun
Publicado 2011

S[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosis()

por Mead, Richard J., Higginbottom, Adrian, Allen, Scott P., Kirby, Janine, Bennett, Ellen, Barber, Siân C., Heath, Paul R., Coluccia, Antonio, Patel, Neelam, Gardner, Iain, Brancale, Andrea, Grierson, Andrew J., Shaw, Pamela J.
Publicado 2013

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

por Cooper-Knock, Johnathan, Walsh, Matthew J., Higginbottom, Adrian, Robin Highley, J., Dickman, Mark J., Edbauer, Dieter, Ince, Paul G., Wharton, Stephen B., Wilson, Stuart A., Kirby, Janine, Hautbergue, Guillaume M., Shaw, Pamela J.
Publicado 2014

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

por Cooper-Knock, Johnathan, Robins, Henry, Niedermoser, Isabell, Wyles, Matthew, Heath, Paul R., Higginbottom, Adrian, Walsh, Theresa, Kazoka, Mbombe, Ince, Paul G., Hautbergue, Guillaume M., McDermott, Christopher J., Kirby, Janine, Shaw, Pamela J.
Publicado 2017

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

por Cooper-Knock, Johnathan, Green, Claire, Altschuler, Gabriel, Wei, Wenbin, Bury, Joanna J., Heath, Paul R., Wyles, Matthew, Gelsthorpe, Catherine, Highley, J. Robin, Lorente-Pons, Alejandro, Beck, Tim, Doyle, Kathryn, Otero, Karel, Traynor, Bryan, Kirby, Janine, Shaw, Pamela J., Hide, Winston
Publicado 2017