Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS)
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
Published in Neurobiology of aging (01.07.2017)
Published in Neurobiology of aging (01.07.2017)
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Journal Article
Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis
Ferraiuolo, Laura, Kirby, Janine, Grierson, Andrew J., Sendtner, Michael, Shaw, Pamela J.
Published in Nature reviews. Neurology (01.11.2011)
Published in Nature reviews. Neurology (01.11.2011)
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Journal Article
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
COOPER-KNOCK, Johnathan, WALSH, Matthew J, HAUTBERGUE, Guillaume M, SHAW, Pamela J, HIGGINBOTTOM, Adrian, HIGHLEY, J. Robin, DICKMAN, Mark J, EDBAUER, Dieter, INCE, Paul G, WHARTON, Stephen B, WILSON, Stuart A, KIRBY, Janine
Published in Brain (London, England : 1878) (01.07.2014)
Published in Brain (London, England : 1878) (01.07.2014)
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Journal Article
Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
Ranganathan, Ramya, Haque, Shaila, Coley, Kayesha, Shepheard, Stephanie, Cooper-Knock, Johnathan, Kirby, Janine
Published in Frontiers in neuroscience (07.07.2020)
Published in Frontiers in neuroscience (07.07.2020)
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Journal Article
Small RNA Sequencing of Sporadic Amyotrophic Lateral Sclerosis Cerebrospinal Fluid Reveals Differentially Expressed miRNAs Related to Neural and Glial Activity
Waller, Rachel, Wyles, Matthew, Heath, Paul R, Kazoka, Mbombe, Wollff, Helen, Shaw, Pamela J, Kirby, Janine
Published in Frontiers in neuroscience (09.01.2018)
Published in Frontiers in neuroscience (09.01.2018)
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Journal Article
Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis
Ferraiuolo, Laura, Higginbottom, Adrian, Heath, Paul R., Barber, Sian, Greenald, David, Kirby, Janine, Shaw, Pamela J.
Published in Brain (London, England : 1878) (01.09.2011)
Published in Brain (London, England : 1878) (01.09.2011)
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Journal Article
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits
Hautbergue, Guillaume M., Castelli, Lydia M., Ferraiuolo, Laura, Sanchez-Martinez, Alvaro, Cooper-Knock, Johnathan, Higginbottom, Adrian, Lin, Ya-Hui, Bauer, Claudia S., Dodd, Jennifer E., Myszczynska, Monika A., Alam, Sarah M., Garneret, Pierre, Chandran, Jayanth S., Karyka, Evangelia, Stopford, Matthew J., Smith, Emma F., Kirby, Janine, Meyer, Kathrin, Kaspar, Brian K., Isaacs, Adrian M., El-Khamisy, Sherif F., De Vos, Kurt J., Ning, Ke, Azzouz, Mimoun, Whitworth, Alexander J., Shaw, Pamela J.
Published in Nature communications (05.07.2017)
Published in Nature communications (05.07.2017)
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Journal Article
C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis
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
Published in PloS one (27.05.2015)
Published in PloS one (27.05.2015)
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Journal Article
Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology
Ince, Paul G., Highley, J. Robin, Kirby, Janine, Wharton, Stephen B., Takahashi, Hitoshi, Strong, Michael J., Shaw, Pamela J.
Published in Acta neuropathologica (01.12.2011)
Published in Acta neuropathologica (01.12.2011)
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Journal Article
The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis
Cooper-Knock, Johnathan, Kirby, Janine, Highley, Robin, Shaw, Pamela J.
Published in Neurotherapeutics (01.04.2015)
Published in Neurotherapeutics (01.04.2015)
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Journal Article
Microarray Analysis of the Cellular Pathways Involved in the Adaptation to and Progression of Motor Neuron Injury in the SOD1 G93A Mouse Model of Familial ALS
Ferraiuolo, Laura, Heath, Paul R, Holden, Hazel, Kasher, Paul, Kirby, Janine, Shaw, Pamela J
Published in The Journal of neuroscience (22.08.2007)
Published in The Journal of neuroscience (22.08.2007)
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Journal Article
A mindful approach to physician self-care
Kirby, Janine M, Milligan, Peter D, Conradie, Hofmeyr H, McIntosh, Belinda M
Published in South African family practice (01.01.2024)
Published in South African family practice (01.01.2024)
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Journal Article
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN
Groen, Ewout J N, Fumoto, Katsumi, Blokhuis, Anna M, Engelen-Lee, Jooyeon, Zhou, Yeping, van den Heuvel, Dianne M A, Koppers, Max, van Diggelen, Femke, van Heest, Jessica, Demmers, Jeroen A A, Kirby, Janine, Shaw, Pamela J, Aronica, Eleonora, Spliet, Wim G M, Veldink, Jan H, van den Berg, Leonard H, Pasterkamp, R Jeroen
Published in Human molecular genetics (15.09.2013)
Published in Human molecular genetics (15.09.2013)
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Journal Article
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)
Cox, Laura E, Ferraiuolo, Laura, Goodall, Emily F, Heath, Paul R, Higginbottom, Adrian, Mortiboys, Heather, Hollinger, Hannah C, Hartley, Judith A, Brockington, Alice, Burness, Christine E, Morrison, Karen E, Wharton, Stephen B, Grierson, Andrew J, Ince, Paul G, Kirby, Janine, Shaw, Pamela J
Published in PloS one (24.03.2010)
Published in PloS one (24.03.2010)
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Journal Article
Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain
Thompson, Alexander G., Gray, Elizabeth, Verber, Nick, Bobeva, Yoana, Lombardi, Vittoria, Shepheard, Stephanie R., Yildiz, Ozlem, Feneberg, Emily, Farrimond, Lucy, Dharmadasa, Thanuja, Gray, Pamela, Edmond, Evan C., Scaber, Jakub, Gagliardi, Delia, Kirby, Janine, Jenkins, Thomas M., Fratta, Pietro, McDermott, Christopher J., Manohar, Sanjay G., Talbot, Kevin, Malaspina, Andrea, Shaw, Pamela J., Turner, Martin R.
Published in Brain communications (04.01.2022)
Published in Brain communications (04.01.2022)
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Journal Article
The genetics of amyotrophic lateral sclerosis: current insights
Alsultan, Afnan A, Waller, Rachel, Heath, Paul R, Kirby, Janine
Published in Degenerative neurological and neuromuscular disease (01.01.2016)
Published in Degenerative neurological and neuromuscular disease (01.01.2016)
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Journal Article
Book Review
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten
Stopford, Matthew J, Higginbottom, Adrian, Hautbergue, Guillaume M, Cooper-Knock, Johnathan, Mulcahy, Padraig J, De Vos, Kurt J, Renton, Alan E, Pliner, Hannah, Calvo, Andrea, Chio, Adriano, Traynor, Bryan J, Azzouz, Mimoun, Heath, Paul R, Kirby, Janine, Shaw, Pamela J
Published in Human molecular genetics (15.03.2017)
Published in Human molecular genetics (15.03.2017)
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Journal Article
Dipeptide Repeat Pathology in C9orf72 -ALS Is Associated with Redox, Mitochondrial and NRF2 Pathway Imbalance
Jiménez-Villegas, José, Kirby, Janine, Mata, Ana, Cadenas, Susana, Turner, Martin R, Malaspina, Andrea, Shaw, Pamela J, Cuadrado, Antonio, Rojo, Ana I
Published in Antioxidants (25.09.2022)
Published in Antioxidants (25.09.2022)
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Journal Article
A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis
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
Published in Acta neuropathologica communications (16.03.2017)
Published in Acta neuropathologica communications (16.03.2017)
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