Kirby, Janine

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., et al. (2012) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 1,210

Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations

Mackenzie, I. R. A., Bigio, E. H., Ince, P. G., Geser, F., Neumann, M., Cairns, N. J., Kwong, L. K., Forman, M. S., Ravits, J., Stewart, H., et al. (2007) · Annals of Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 992

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

Ferraiuolo, L., Kirby, J., Grierson, A. J., Sendtner, M., & Shaw, P. J. (2011) · Nature Reviews Neurology

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 615

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

Cox, L. E., Ferraiuolo, L., Goodall, E. F., Heath, P. R., Higginbottom, A., Mortiboys, H., Hollinger, H. C., Hartley, J. A., Brockington, A., Burness, C. E., et al. (2010) · PLoS ONE

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 262

Neuronal dark matter: the emerging role of microRNAs in neurodegeneration

Goodall, E. F., Heath, P. R., Bandmann, O., Kirby, J., & Shaw, P. J. (2013) · Frontiers in Cellular Neuroscience

MicroRNA in disease regulationNeuroinflammation and Neurodegeneration Mechanisms

Cited by 187

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

Shepheard, S. R., Parker, M. D., Cooper-Knock, J., Verber, N. S., Tuddenham, L., Heath, P., Beauchamp, N., Place, E., Sollars, E. S. A., Turner, M. R., et al. (2021) · Journal of Neurology, Neurosurgery & Psychiatry

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 116

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

Cooper-Knock, J., Green, C., Altschuler, G., Wei, W., Bury, J. J., Heath, P. R., Wyles, M., Gelsthorpe, C., Highley, J. R., Lorente-Pons, A., et al. (2017) · Acta Neuropathologica Communications

Amyotrophic Lateral Sclerosis ResearchNeuroinflammation and Neurodegeneration Mechanisms

Cited by 80

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

Ismail, A., Cooper-Knock, J., Highley, J. R., Milano, A., Kirby, J., Goodall, E., Lowe, J., Scott, I., Constantinescu, C. S., Walters, S. J., et al. (2013) · Journal of Neurology, Neurosurgery & Psychiatry

Amyotrophic Lateral Sclerosis ResearchMultiple Sclerosis Research Studies

Cited by 65

Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis

Lorente Pons, A., Higginbottom, A., Cooper‐Knock, J., Alrafiah, A., Alofi, E., Kirby, J., Shaw, P. J., Wood, J. D., & Highley, J. R. (2020) · The Journal of Pathology

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 57