• 5968 Citations
  • 28 h-Index
1995 …2021
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  • 26 Similar Profiles
Amyotrophic Lateral Sclerosis Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Motor Neurons Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Bipolar Disorder Medicine & Life Sciences
Hereditary Sensory and Autonomic Neuropathies Medicine & Life Sciences
Neurodegenerative Diseases Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects 2012 2021

Seeking genomic factors that modify the progression of MND

Williams, K., Blair, I., Bauer, D. C., Twine, N., Nicholson, G. & Rowe, D.

20/04/1819/04/19

Project: Research

The role of mutant CYLD in frontotemporal dementia and motor neuron disease

Blair, I., Dobson-Stone, C., Kwok, J. B., Atkin, J., Ooi, L., Ittner, A., Lee, A., Mather, K. A., Thompson, E. & Burgio, G.

1/01/1831/12/21

Project: Research

BRAIN-MEND: Biological Resource Analysis to Identify New MEchanisms and phenotypes in Neurodegenerative Diseases

Blair, I., Wray, N. R., Armstrong, N. J., Kwok, J. B., Laws, S., Mather, K. A., McRae, A. F., Mellick, G. & Sachdev, P. S.

1/01/1831/12/20

Project: Other

Research Output 1995 2018

Accumulation of dysfunctional SOD1 protein in Parkinson’s disease is not associated with mutations in the SOD1 gene

Trist, B. G., Fifita, J. A., Freckleton, S. E., Hare, D. J., Lewis, S. J. G., Halliday, G. M., Blair, I. P. & Double, K. L. Jan 2018 In : Acta Neuropathologica. 135, 1, p. 155–156 2 p.

Research output: Contribution to journalArticle

ERp57 is protective against mutant SOD1-induced cellular pathology in amyotrophic lateral sclerosis

Parakh, S., Jagaraj, C. J., Vidal, M., Ragagnin, A. M. G., Perri, E. R., Konopka, A., Toth, R. P., Galper, J., Blair, I. P., Thomas, C. J., Walker, A. K., Yang, S., Spencer, D. M. & Atkin, J. D. 15 Apr 2018 In : Human Molecular Genetics. 27, 8, p. 1311-1331 21 p.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Endoplasmic Reticulum Stress
Pathology
Apoptosis
DNA-Binding Proteins

Genome-wide analyses identify KIF5A as a novel ALS gene

Nicolas, A. , Kenna, K. P. , Renton, A. E. , Ticozzi, N. , Faghri, F. , Chia, R. , Dominov, J. A. , Kenna, B. J. , Nalls, M. A. , Keagle, P. , Rivera, A. M. , van Rheenen, W. , Murphy, N. A. , van Vugt, J. J. F. A. , Geiger, J. T. , van der Spek, R. , Pliner, H. A. , Shankaracharya, , Smith, B. N. , Marangi, G. & 193 others Topp, S. D., Abramzon, Y., Gkazi, A. S., Eicher, J. D., Kenna, A., ITALSGEN Consortium, Mora, G., Calvo, A., Mazzini, L., Riva, N., Mandrioli, J., Caponnetto, C., Battistini, S., Volanti, P., La Bella, V., Conforti, F. L., Borghero, G., Messina, S., Simone, I. L., Trojsi, F., Salvi, F., Logullo, F. O., D'Alfonso, S., Corrado, L., Capasso, M., Ferrucci, L., Genomic Translation for ALS Care (GTAC) Consortium, Moreno, C. D. A. M., Kamalakaran, S., Goldstein, D. B., ALS Sequencing Consortium, Gitler, A. D., Harris, T., Myers, R. M., NYGC ALS Consortium, Phatnani, H., Musunuri, R. L., Evani, U. S., Abhyankar, A., Zody, M. C., Answer ALS Foundation, Kaye, J., Finkbeiner, S., Wyman, S. K., LeNail, A., Lima, L., Fraenkel, E., Svendsen, C. N., Thompson, L. M., Van Eyk, J. E., Berry, J. D., Miller, T. M., Kolb, S. J., Cudkowicz, M., Baxi, E., Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar, M., Taylor, J. P., Rampersaud, E., Wu, G., Wuu, J., SLAGEN Consortium, Lauria, G., Verde, F., Fogh, I., Tiloca, C., Comi, G. P., Sorarù, G., Cereda, C., French ALS Consortium, Corcia, P., Laaksovirta, H., Myllykangas, L., Jansson, L., Valori, M., Ealing, J., Hamdalla, H., Rollinson, S., Pickering-Brown, S., Orrell, R. W., Sidle, K. C., Malaspina, A., Hardy, J., Singleton, A. B., Johnson, J. O., Arepalli, S., Sapp, P. C., McKenna-Yasek, D., Polak, M., Asress, S., Al-Saraj, S., King, A., Troakes, C., Vance, C., de Belleroche, J., Baas, F., ten Asbroek, A. L. M. A., Muñoz-Blanco, J. L., Hernandez, D. G., Ding, J., Gibbs, J. R., Scholz, S. W., Floeter, M. K., Campbell, R. H., Landi, F., Bowser, R., Pulst, S. M., Ravits, J. M., MacGowan, D. J. L., Kirby, J., Pioro, E. P., Pamphlett, R., Broach, J., Gerhard, G., Dunckley, T. L., Brady, C. B., Kowall, N. W., Troncoso, J. C., Le Ber, I., Mouzat, K., Lumbroso, S., Heiman-Patterson, T. D., Kamel, F., van den Bosch, L., Baloh, R. H., Strom, T. M., Meitinger, T., Shatunov, A., Van Eijk, K. R., de Carvalho, M., Kooyman, M., Middelkoop, B., Moisse, M., McLaughlin, R. L., Van Es, M. A., Weber, M., Boylan, K. B., Van Blitterswijk, M., Rademakers, R., Morrison, K. E., Basak, A. N., Mora, J. S., Drory, V. E., Shaw, P. J., Turner, M. R., Talbot, K., Hardiman, O., Williams, K. L., Fifita, J. A., Nicholson, G. A., Blair, I. P., Rouleau, G. A., Esteban-Pérez, J., García-Redondo, A., Al-Chalabi, A., Project MinE ALS Sequencing Consortium, Rogaeva, E., Zinman, L., Ostrow, L. W., Maragakis, N. J., Rothstein, J. D., Simmons, Z., Cooper-Knock, J., Brice, A., Goutman, S. A., Feldman, E. L., Gibson, S. B., Taroni, F., Ratti, A., Gellera, C., Van Damme, P., Robberecht, W., Fratta, P., Sabatelli, M., Lunetta, C., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H., Camu, W., Trojanowski, J. Q., Van Deerlin, V. M., Brown, R. H., van den Berg, L. H., Veldink, J. H., Harms, M. B., Glass, J. D., Stone, D. J., Tienari, P., Silani, V., Chiò, A., Shaw, C. E., Traynor, B. J. & Landers, J. E. 21 Mar 2018 In : Neuron. 97, 6, p. 1268-1283 16 p.

Research output: Contribution to journalArticle

Kinesin
Genome
Mutation
Genes
Genome-Wide Association Study

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease

Acosta, J. R., Watchon, M., Yuan, K. C., Fifita, J. A., Svahn, A. J., Don, E. K., Winnick, C. G., Blair, I. P., Nicholson, G. A., Cole, N. J., Goldsbury, C. & Laird, A. S. 1 Jan 2018 In : Biology Open. 7, 10, p. 1-7 7 p., bio036475

Research output: Contribution to journalArticle

Open Access
File
Neurodegenerative diseases
neurodegenerative diseases
Zebrafish
Danio rerio
Cell culture

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy

Lee, A. , Rayner, S. L. , Gwee, S. S. L. , De Luca, A. , Shahheydari, H. , Sundaramoorthy, V. , Ragagnin, A. , Morsch, M. , Radford, R. , Galper, J. , Freckleton, S. , Shi, B. , Walker, A. K. , Don, E. K. , Cole, N. J. , Yang, S. , Williams, K. L. , Yerbury, J. J. , Blair, I. P. , Atkin, J. D. & 2 others Molloy, M. P. & Chung, R. S. Jan 2018 In : Cellular and Molecular Life Sciences. 75, 2, p. 335–354 20 p.

Research output: Contribution to journalArticle

Cyclins
Ubiquitination
Autophagy
Mutation
Genes