Shaw, Pamela J.

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

Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

Miller, T. M., Cudkowicz, M. E., Genge, A., Shaw, P. J., Sobue, G., Bucelli, R. C., Chiò, A., Van Damme, P., Ludolph, A. C., Glass, J. D., et al. (2022) · New England Journal of Medicine

Amyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders Research

Cited by 966

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

White Matter Lesions in an Unselected Cohort of the Elderly: Molecular Pathology Suggests Origin From Chronic Hypoperfusion Injury

Fernando, M. S., Simpson, J. E., Matthews, F., Brayne, C., Lewis, C. E., Barber, R., Kalaria, R. N., Forster, G., Esteves, F., Wharton, S. B., et al. (2006) · Stroke

Cerebrovascular and genetic disordersNeurological Disease Mechanisms and Treatments

Cited by 587

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Van Deerlin, V. M., Sleiman, P. M. A., Martinez-Lage, M., Chen-Plotkin, A., Wang, L.-S., Graff-Radford, N. R., Dickson, D. W., Rademakers, R., Boeve, B. F., Grossman, M., et al. (2010) · Nature Genetics

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 579

Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

Miller, T., Cudkowicz, M., Shaw, P. J., Andersen, P. M., Atassi, N., Bucelli, R. C., Genge, A., Glass, J., Ladha, S., Ludolph, A. L., et al. (2020) · New England Journal of Medicine

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 565

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

van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H.-J., Bakker, O. B., Deelen, P., et al. (2021) · Nature Genetics

Amyotrophic Lateral Sclerosis ResearchGenetic Associations and Epidemiology

Cited by 542

Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation

Mead, R. J., Shan, N., Reiser, H. J., Marshall, F., & Shaw, P. J. (2023) · Nature Reviews Drug Discovery

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 505

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

Webster, C. P., Smith, E. F., Bauer, C. S., Moller, A., Hautbergue, G. M., Ferraiuolo, L., Myszczynska, M. A., Higginbottom, A., Walsh, M. J., Whitworth, A. J., et al. (2016) · The EMBO Journal

Amyotrophic Lateral Sclerosis ResearchAutophagy in Disease and Therapy

Cited by 404

ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

Parkinson, N., Ince, P. G., Smith, M. O., Highley, R., Skibinski, G., Andersen, P. M., Morrison, K. E., Pall, H. S., Hardiman, O., Collinge, J., et al. (2006) · Neurology

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 395

Detection of long repeat expansions from PCR-free whole-genome sequence data

Dolzhenko, E., van Vugt, J. J. F. A., Shaw, R. J., Bekritsky, M. A., van Blitterswijk, M., Narzisi, G., Ajay, S. S., Rajan, V., Lajoie, B. R., Johnson, N. H., et al. (2017) · Genome Research

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 388

Astrocyte phenotype in relation to Alzheimer‐type pathology in the ageing brain

Simpson, J. E., Ince, P. G., Lace, G., Forster, G., Shaw, P. J., Matthews, F., Savva, G., Brayne, C., & Wharton, S. B. (2010) · Neurobiology of Aging

Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 381

Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS

Meyer, K., Ferraiuolo, L., Miranda, C. J., Likhite, S., McElroy, S., Renusch, S., Ditsworth, D., Lagier-Tourenne, C., Smith, R. A., Ravits, J., et al. (2014) · Proceedings of the National Academy of Sciences

Amyotrophic Lateral Sclerosis ResearchPluripotent Stem Cells Research

Cited by 361

Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy

Valori, C. F., Ning, K., Wyles, M., Mead, R. J., Grierson, A. J., Shaw, P. J., & Azzouz, M. (2010) · Science Translational Medicine

Neurogenetic and Muscular Disorders ResearchVirus-based gene therapy research

Cited by 285

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

Diagnosis and management of motor neurone disease

McDermott, C. J., & Shaw, P. J. (2008) · BMJ

Amyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders Research

Cited by 220

White matter lesions in an unselected cohort of the elderly: astrocytic, microglial and oligodendrocyte precursor cell responses

Simpson, J. E., Fernando, M. S., Clark, L., Ince, P. G., Matthews, F., Forster, G., O'Brien, J. T., Barber, R., Kalaria, R. N., Brayne, C., et al. (2007) · Neuropathology and Applied Neurobiology

Neuroinflammation and Neurodegeneration MechanismsCerebrovascular and genetic disorders

Cited by 215

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

Lill, C. M., Rengmark, A., Pihlstrøm, L., Fogh, I., Shatunov, A., Sleiman, P. M., Wang, L., Liu, T., Lassen, C. F., Meissner, E., et al. (2015) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 205

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

The chromosome 9 ALS and FTD locus is probably derived from a single founder

Mok, K., Traynor, B. J., Schymick, J., Tienari, P. J., Laaksovirta, H., Peuralinna, T., Myllykangas, L., Chiò, A., Shatunov, A., Boeve, B. F., et al. (2012) · Neurobiology of Aging

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 131

A phase II–III trial of olesoxime in subjects with amyotrophic lateral sclerosis

Lenglet, T., Lacomblez, L., Abitbol, J. L., Ludolph, A., Mora, J. S., Robberecht, W., Shaw, P. J., Pruss, R. M., Cuvier, V., Meininger, V., et al. (2014) · European Journal of Neurology

Amyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders Research

Cited by 130

Rasch analysis of the Hospital Anxiety and Depression Scale (HADS) for use in motor neurone disease

Gibbons, C. J., Mills, R. J., Thornton, E. W., Ealing, J., Mitchell, J. D., Shaw, P. J., Talbot, K., Tennant, A., & Young, C. A. (2011) · Health and Quality of Life Outcomes

Psychometric Methodologies and TestingAnxiety, Depression, Psychometrics, Treatment, Cognitive Processes

Cited by 130

The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS)

Boddy, S. L., Giovannelli, I., Sassani, M., Cooper-Knock, J., Snyder, M. P., Segal, E., Elinav, E., Barker, L. A., Shaw, P. J., & McDermott, C. J. (2021) · BMC Medicine

Gut microbiota and healthAmyotrophic Lateral Sclerosis Research

Cited by 127