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19952020

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2020

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

Dobson-Stone, C., Hallupp, M., Shahheydari, H., Ragagnin, A. M. G., Chatterton, Z., Carew-Jones, F., Shepherd, C. E., Stefen, H., Paric, E., Fath, T., Thompson, E. M., Blumbergs, P., Short, C. L., Field, C. D., Panegyres, P. K., Hecker, J., Nicholson, G., Shaw, A. D., Fullerton, J. M., Luty, A. A. & 19 others, Schofield, P. R., Brooks, W. S., Rajan, N., Bennett, M. F., Bahlo, M., Shankaracharya, Landers, J. E., Piguet, O., Hodges, J. R., Halliday, G. M., Topp, S. D., Smith, B. N., Shaw, C. E., McCann, E., Fifita, J. A., Williams, K. L., Atkin, J. D., Blair, I. P. & Kwok, J. B., 1 Mar 2020, In : Brain : a journal of neurology. 143, 3, p. 783-799 17 p.

Research output: Contribution to journalArticle

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

McCann, E. P., Henden, L., Fifita, J. A., Zhang, K. Y., Grima, N., Bauer, D. C., Fat, S. C. M., Twine, N. A., Pamphlett, R., Kiernan, M. C., Rowe, D. B., Williams, K. L. & Blair, I. P., 14 May 2020, In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice

McCann, E. P., Fifita, J. A., Grima, N., Galper, J., Mehta, P., Freckleton, S. E., Zhang, K. Y., Henden, L., Hogan, A. L., Chan Moi Fat, S., Wu, S. S. L., Jagaraj, C. J., Berning, B. A., Williams, K. L., Twine, N. A., Bauer, D., Piguet, O., Hodges, J., Kwok, J. B. J., Halliday, G. M. & 7 others, Kiernan, M. C., Atkin, J., Rowe, D. B., Nicholson, G. A., Walker, A. K., Blair, I. P. & Yang, S., 1 Feb 2020, In : Journal of Neurology, Neurosurgery and Psychiatry. 91, 2, p. 162-171 10 p.

Research output: Contribution to journalArticle

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

Nabais, M. F., Lin, T., Benyamin, B., Williams, K. L., Garton, F. C., Vinkhuyzen, A. A. E., Zhang, F., Vallerga, C. L., Restuadi, R., Freydenzon, A., Zwamborn, R. A. J., Hop, P. J., Robinson, M. R., Gratten, J., Visscher, P. M., Hannon, E., Mill, J., Brown, M. A., Laing, N. G., Mather, K. A. & 17 others, Sachdev, P. S., Ngo, S. T., Steyn, F. J., Wallace, L., Henders, A. K., Needham, M., Veldink, J. H., Mathers, S., Nicholson, G., Rowe, D. B., Henderson, R. D., McCombe, P. A., Pamphlett, R., Yang, J., Blair, I. P., McRae, A. F. & Wray, N. R., 27 Feb 2020, In : npj Genomic Medicine. 5, 1, p. 1-9 9 p., 10.

Research output: Contribution to journalArticle

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The mRNA-based reprogramming of fibroblasts from a SOD1E101G familial amyotrophic lateral sclerosis patient to induced pluripotent stem cell line UOWi007

Balez, R., Berg, T., Bax, M., Muñoz, S. S., Cabral-da-Silva, M. C., Engel, M., Do-Ha, D., Stevens, C. H., Rowe, D., Yang, S., Blair, I. P. & Ooi, L., 1 Jan 2020, In : Stem Cell Research. 42, p. 1-4 4 p., 101701.

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Open Access
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2019

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Tazelaar, G. H. P., Dekker, A. M., van Vugt, J. J. F. A., van der Spek, R. A., Westeneng, H-J., Kool, L. J. B. G., Kenna, K. P., van Rheenen, W., Pulit, S. L., McLaughlin, R. L., Sproviero, W., Iacoangeli, A., Hübers, A., Brenner, D., Morrison, K. E., Shaw, P. J., Shaw, C. E., Panadés, M. P., Mora Pardina, J. S., Glass, J. D. & 11 others, Hardiman, O., Al-Chalabi, A., van Damme, P., Robberecht, W., Landers, J. E., Ludolph, A. C., Weishaupt, J. H., van den Berg, L. H., Veldink, J. H., van Es, M. A. & Project MinE ALS Sequencing Consortium, 1 Feb 2019, In : Neurobiology of Aging. 74, p. 234.e9-234.e15 7 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Farhan, S. M. K., Howrigan, D. P., Abbott, L. E., Klim, J. R., Topp, S. D., Byrnes, A. E., Churchhouse, C., Phatnani, H., Smith, B. N., Rampersaud, E., Wu, G., Wuu, J., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Mordes, D. A., Ghosh, S., ALSGENS Consortium, FALS Consortium, Project MinE Consortium & 19 others, CReATe Consortium, Eggan, K., Rademakers, R., McCauley, J. L., Schüle, R., Züchner, S., Benatar, M., Taylor, J. P., Nalls, M., Gotkine, M., Shaw, P. J., Morrison, K. E., Al-Chalabi, A., Traynor, B., Shaw, C. E., Goldstein, D. B., Harms, M. B., Daly, M. J. & Neale, B. M., 1 Dec 2019, In : Nature Neuroscience. 22, 12, p. 1966-1974 9 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNFS621G familial amyotrophic lateral sclerosis patient using mRNA reprogramming

Bax, M., Balez, R., Muñoz, S. S., Do-Ha, D., Stevens, C. H., Berg, T., Cabral-da-Silva, M. C., Engel, M., Nicholson, G., Yang, S., Blair, I. P. & Ooi, L., 1 Oct 2019, In : Stem Cell Research. 40, p. 1-4 4 p., 101530.

Research output: Contribution to journalArticle

Open Access
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Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression

Tarr, I. S., McCann, E. P., Benyamin, B., Peters, T. J., Twine, N. A., Zhang, K. Y., Zhao, Q., Zhang, Z-H., Rowe, D. B., Nicholson, G. A., Bauer, D., Clark, S. J., Blair, I. P. & Williams, K. L., 4 Jun 2019, In : Scientific Reports. 9, 1, p. 1-17 17 p., 8254.

Research output: Contribution to journalArticle

Open Access
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5 Citations (Scopus)
15 Downloads (Pure)

Motor neuron abnormalities correlate with impaired movement in zebrafish that express mutant superoxide dismutase 1

Robinson, K. J., Yuan, K. C., Don, E. K., Hogan, A. L., Winnick, C. G., Tym, M. C., Lucas, C. W., Shahheydari, H., Watchon, M., Blair, I. P., Atkin, J. D., Nicholson, G. A., Cole, N. J. & Laird, A. S., 1 Feb 2019, In : Zebrafish. 16, 1, p. 8-14 7 p.

Research output: Contribution to journalArticle

Open Access
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2 Citations (Scopus)
8 Downloads (Pure)

The metastability of the proteome of spinal motor neurons underlies their selective vulnerability in ALS

Yerbury, J. J., Ooi, L., Blair, I. P., Ciryam, P., Dobson, C. M. & Vendruscolo, M., 21 Jun 2019, In : Neuroscience Letters. 704, p. 89-94 6 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)
2018
Open Access
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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

7 Citations (Scopus)

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

100 Citations (Scopus)

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., Oct 2018, In : Biology Open. 7, 10, p. 1-7 7 p., bio036475.

Research output: Contribution to journalArticle

Open Access
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2 Citations (Scopus)
14 Downloads (Pure)

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

7 Citations (Scopus)

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Project MinE ALS Sequencing Consortium, Oct 2018, In : European Journal of Human Genetics. 26, 10, p. 1537-1546 10 p.

Research output: Contribution to journalArticle

Open Access
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22 Citations (Scopus)
8 Downloads (Pure)
2017
12 Citations (Scopus)

Casein kinase II phosphorylation of cyclin F at serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF(cyclin F) complex

Lee, A., Rayner, S. L., De Luca, A., Gwee, S. S. L., Morsch, M., Sundaramoorthy, V., Shahheydari, H., Ragagnin, A., Shi, B., Yang, S., Williams, K. L., Don, E. K., Walker, A. K., Zhang, K. Y., Yerbury, J. J., Cole, N. J., Atkin, J. D., Blair, I. P., Molloy, M. P. & Chung, R. S., 2017, In : Open Biology. 7, 10, p. 1-11 11 p., 170058.

Research output: Contribution to journalArticle

Open Access
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6 Citations (Scopus)
13 Downloads (Pure)

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

Benyamin, B., He, J., Zhao, Q., Gratten, J., Garton, F., Leo, P. J., Liu, Z., Mangelsdorf, M., Al-Chalabi, A., Anderson, L., Butler, T. J., Chen, L., Chen, X. D., Cremin, K., Deng, H. W., Devine, M., Edson, J., Fifita, J. A., Furlong, S., Han, Y. Y. & 44 others, Harris, J., Henders, A. K., Jeffree, R. L., Jin, Z. B., Li, Z., Li, T., Li, M., Lin, Y., Liu, X., Marshall, M., McCann, E. P., Mowry, B. J., Ngo, S. T., Pamphlett, R., Ran, S., Reutens, D. C., Rowe, D. B., Sachdev, P., Shah, S., Song, S., Tan, L. J., Tang, L., Van Den Berg, L. H., Van Rheenen, W., Veldink, J. H., Wallace, R. H., Wheeler, L., Williams, K. L., Wu, J., Wu, X., Yang, J., Yue, W., Zhang, Z. H., Zhang, D., Noakes, P. G., Blair, I. P., Henderson, R. D., McCombe, P. A., Visscher, P. M., Xu, H., Bartlett, P. F., Brown, M. A., Wray, N. R. & Fan, D., 1 Dec 2017, In : Nature Communications. 8, p. 1-7 7 p., 611.

Research output: Contribution to journalArticle

Open Access
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17 Citations (Scopus)
9 Downloads (Pure)
6 Citations (Scopus)

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype

Hogan, A. L., Don, E. K., Rayner, S. L., Lee, A., Laird, A. S., Watchon, M., Winnick, C., Tarr, I. S., Morsch, M., Fifita, J. A., Gwee, S. S. L., Formella, I., Hortle, E., Yuan, K. C., Molloy, M. P., Williams, K. L., Nicholson, G. A., Chung, R. S., Blair, I. P. & Cole, N. J., 15 Jul 2017, In : Human molecular genetics. 26, 14, p. 2616-2626 11 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Genetic and pathological assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in familial and sporadic amyotrophic lateral sclerosis

Fifita, J. A., Zhang, K. Y., Galper, J., Williams, K. L., McCann, E. P., Hogan, A. L., Saunders, N., Bauer, D., Tarr, I. S., Pamphlett, R., Nicholson, G. A., Rowe, D., Yang, S. & Blair, I. P., 1 Dec 2017, In : Neurodegenerative Diseases. 17, 6, p. 304-312 9 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

McLaughlin, R. L., Schijven, D., van Rheenen, W., van Eijk, K. R., O'Brien, M., Kahn, R. S., Ophoff, R. A., Goris, A., Bradley, D. G., Al-Chalabi, A., van den Berg, L. H., Luykx, J. J., Hardiman, O., Veldink, J. H., Project MinE GWAS Consortium & Schizophrenia Working Group of the Psychiatric Genomics Consortium, 21 Mar 2017, In : Nature Communications. 8, p. 1-12 12 p., 14774.

Research output: Contribution to journalArticle

Open Access
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40 Citations (Scopus)
16 Downloads (Pure)

Non-nuclear pool of splicing factor SFPQ regulates axonal transcripts required for normal motor development

Thomas-Jinu, S., Gordon, P. M., Fielding, T., Taylor, R., Smith, B. N., Snowden, V., Blanc, E., Vance, C., Topp, S., Wong, C. H., Bielen, H., Williams, K. L., McCann, E. P., Nicholson, G. A., Pan-Vazquez, A., Fox, A. H., Bond, C. S., Talbot, W. S., Blair, I. P., Shaw, C. E. & 1 others, Houart, C., 19 Apr 2017, In : Neuron. 94, 2, p. 322-336 15 p.

Research output: Contribution to journalArticle

Open Access
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21 Citations (Scopus)
9 Downloads (Pure)

Postnatal development of spasticity following transgene insertion in the mouse βIV spectrin gene (SPTBN4)

Kichkin, E., Visvanathan, A., Lovicu, F. J., Shu, D. Y., Das, S. J., Reddel, S. W., McCann, E. P., Zhang, K. Y., Williams, K. L., Blair, I. P. & Phillips, W. D., 30 May 2017, In : Journal of Neuromuscular Diseases. 4, 2, p. 159-164 6 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Targeted genetic screen in amyotrophic lateral sclerosis reveals novel genetic variants with synergistic effect on clinical phenotype

Cooper-Knock, J., Robins, H., Niedermoser, I., Wyles, M., Heath, P. R., Higginbottom, A., Walsh, T., Kazoka, M., Project MinE ALS Sequencing Consortium, Ince, P. G., Hautbergue, G. M., McDermott, C. J., Kirby, J. & Shaw, P. J., 9 Nov 2017, In : Frontiers in Molecular Neuroscience. 10, p. 1-11 11 p., 370.

Research output: Contribution to journalArticle

Open Access
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8 Citations (Scopus)
1 Downloads (Pure)

TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway

Moujalled, D., Grubman, A., Acevedo, K., Yang, S., Ke, Y. D., Moujalled, D. M., Duncan, C., Caragounis, A., Perera, N. D., Turner, B. J., Prudencio, M., Petrucelli, L., Blair, I., Ittner, L. M., Crouch, P. J., Liddell, J. R. & White, A. R., 1 May 2017, In : Human molecular genetics. 26, 9, p. 1732-1746 15 p., ddx093.

Research output: Contribution to journalArticle

17 Citations (Scopus)

The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia

McCann, E. P., Williams, K. L., Fifita, J. A., Tarr, I. S., O'Connor, J. A., Rowe, D. B., Nicholson, G. A. & Blair, I. P., Sep 2017, In : Clinical Genetics. 92, 3, p. 259-266 8 p.

Research output: Contribution to journalArticle

16 Citations (Scopus)
2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Williams, K. L., Topp, S., Yang, S., Smith, B., Fifita, J. A., Warraich, S. T., Zhang, K. Y., Farrawell, N., Vance, C., Hu, X., Chesi, A., Leblond, C. S., Lee, A., Rayner, S. L., Sundaramoorthy, V., Dobson-Stone, C., Molloy, M. P., Van Blitterswijk, M., Dickson, D. W., Petersen, R. C. & 48 others, Graff-Radford, N. R., Boeve, B. F., Murray, M. E., Pottier, C., Don, E., Winnick, C., McCann, E. P., Hogan, A., Daoud, H., Levert, A., Dion, P. A., Mitsui, J., Ishiura, H., Takahashi, Y., Goto, J., Kost, J., Gellera, C., Gkazi, A. S., Miller, J., Stockton, J., Brooks, W. S., Boundy, K., Polak, M., Muñoz-Blanco, J. L., Esteban-Pérez, J., Rábano, A., Hardiman, O., Morrison, K. E., Ticozzi, N., Silani, V., De Belleroche, J., Glass, J. D., Kwok, J. B. J., Guillemin, G. J., Chung, R. S., Tsuji, S., Brown, R. H., García-Redondo, A., Rademakers, R., Landers, J. E., Gitler, A. D., Rouleau, G. A., Cole, N. J., Yerbury, J. J., Atkin, J. D., Shaw, C. E., Nicholson, G. A. & Blair, I. P., 15 Apr 2016, In : Nature Communications. 7, p. 1-8 8 p., 11253.

Research output: Contribution to journalArticle

Open Access
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80 Citations (Scopus)
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Van Rheenen, W., Shatunov, A., Dekker, A. M., McLaughlin, R. L., Diekstra, F. P., Pulit, S. L., Van Der Spek, R. A. A., Võsa, U., De Jong, S., Robinson, M. R., Yang, J., Fogh, I., Van Doormaal, P. T. C., Tazelaar, G. H. P., Koppers, M., Blokhuis, A. M., Sproviero, W., Jones, A. R., Kenna, K. P., Van Eijk, K. R. & 158 others, Harschnitz, O., Schellevis, R. D., Brands, W. J., Medic, J., Menelaou, A., Vajda, A., Ticozzi, N., Lin, K., Rogelj, B., Vrabec, K., Ravnik-Glava, M., Koritnik, B., Zidar, J., Leonardis, L., Grošelj, L. D., Millecamps, S., Salachas, F., Meininger, V., De Carvalho, M., Pinto, S., Mora, J. S., Rojas-García, R., Polak, M., Chandran, S., Colville, S., Swingler, R., Morrison, K. E., Shaw, P. J., Hardy, J., Orrell, R. W., Pittman, A., Sidle, K., Fratta, P., Malaspina, A., Topp, S., Petri, S., Abdulla, S., Drepper, C., Sendtner, M., Meyer, T., Ophoff, R. A., Staats, K. A., Wiedau-Pazos, M., Lomen-Hoerth, C., Van Deerlin, V. M., Trojanowski, J. Q., Elman, L., McCluskey, L., Basak, A. N., Tunca, C., Hamzeiy, H., Parman, Y., Meitinger, T., Lichtner, P., Radivojkov-Blagojevic, M., Andres, C. R., Maurel, C., Bensimon, G., Landwehrmeyer, B., Brice, A., Payan, C. A. M., Saker-Delye, S., Dürr, A., Wood, N. W., Tittmann, L., Lieb, W., Franke, A., Rietschel, M., Cichon, S., Nöthen, M. M., Amouyel, P., Tzourio, C., Dartigues, J. F., Uitterlinden, A. G., Rivadeneira, F., Estrada, K., Hofman, A., Curtis, C., Blauw, H. M., Van Der Kooi, A. J., De Visser, M., Goris, A., Weber, M., Shaw, C. E., Smith, B. N., Pansarasa, O., Cereda, C., Del Bo, R., Comi, G. P., D'Alfonso, S., Bertolin, C., Sorarù, G., Mazzini, L., Pensato, V., Gellera, C., Tiloca, C., Ratti, A., Calvo, A., Moglia, C., Brunetti, M., Arcuti, S., Capozzo, R., Zecca, C., Lunetta, C., Penco, S., Riva, N., Padovani, A., Filosto, M., Muller, B., Stuit, R. J., Blair, I., Zhang, K., McCann, E. P., Fifita, J. A., Nicholson, G. A., Rowe, D. B., Pamphlett, R., Kiernan, M. C., Grosskreutz, J., Witte, O. W., Ringer, T., Prell, T., Stubendorff, B., Kurth, I., Hübner, C. A., Nigel Leigh, P., Casale, F., Chio, A., Beghi, E., Pupillo, E., Tortelli, R., Logroscino, G., Powell, J., Ludolph, A. C., Weishaupt, J. H., Robberecht, W., Van Damme, P., Franke, L., Pers, T. H., Brown, R. H., Glass, J. D., Landers, J. E., Hardiman, O., Andersen, P. M., Corcia, P., Vourc'H, P., Silani, V., Wray, N. R., Visscher, P. M., De Bakker, P. I. W., Van Es, M. A., Jeroen Pasterkamp, R., Lewis, C. M., Breen, G., Al-Chalabi, A., Van Den Berg, L. H., Veldink, J. H. & Williams, K., 1 Sep 2016, In : Nature Genetics. 48, 9, p. 1043-1048 6 p.

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159 Citations (Scopus)

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kenna, K. P., Van Doormaal, P. T. C., Dekker, A. M., Ticozzi, N., Kenna, B. J., Diekstra, F. P., Van Rheenen, W., Van Eijk, K. R., Jones, A. R., Keagle, P., Shatunov, A., Sproviero, W., Smith, B. N., Van Es, M. A., Topp, S. D., Kenna, A., Miller, J. W., Fallini, C., Tiloca, C., McLaughlin, R. L. & 62 others, Vance, C., Troakes, C., Colombrita, C., Mora, G., Calvo, A., Verde, F., Al-Sarraj, S., King, A., Calini, D., De Belleroche, J., Baas, F., Van Der Kooi, A. J., De Visser, M., Ten Asbroek, A. L. M. A., Sapp, P. C., McKenna-Yasek, D., Polak, M., Asress, S., Muñoz-Blanco, J. L., Strom, T. M., Meitinger, T., Morrison, K. E., SLAGEN Consortium, Lauria, G., Williams, K. L., Leigh, P. N., Nicholson, G. A., Blair, I. P., Leblond, C. S., Dion, P. A., Rouleau, G. A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., Boylan, K. B., Van Blitterswijk, M., Rademakers, R., Esteban-Pérez, J., García-Redondo, A., Van Damme, P., Robberecht, W., Chio, A., Gellera, C., Drepper, C., Sendtner, M., Ratti, A., Glass, J. D., Mora, J. S., Basak, N. A., Hardiman, O., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H., Brown, R. H., Al-Chalabi, A., Silani, V., Shaw, C. E., Van Den Berg, L. H., Veldink, J. H. & Landers, J. E., 1 Sep 2016, In : Nature Genetics. 48, 9, p. 1037-1042 6 p.

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88 Citations (Scopus)
2015

ALS-associated mutant FUS inhibits macroautophagy which is restored by overexpression of Rab1

Soo, K. Y., Sultana, J., King, A. E., Atkinson, R. A. K., Warraich, S. T., Sundaramoorthy, V., Blair, I., Farg, M. A. & Atkin, J. D., 21 Dec 2015, In : Cell Death Discovery. 1, 1, p. 1-12 12 p., 15030.

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28 Citations (Scopus)
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Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis

Sundaramoorthy, V., Walker, A. K., Tan, V., Fifita, J. A., McCann, E. P., Williams, K. L., Blair, I. P., Guillemin, G. J., Farg, M. A. & Atkin, J. D., 1 Jul 2015, In : Human molecular genetics. 24, 13, p. 3830-3846 17 p., ddv126.

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35 Citations (Scopus)

Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions

Farrawell, N. E., Lambert-Smith, I. A., Warraich, S. T., Blair, I. P., Saunders, D. N., Hatters, D. M. & Yerbury, J. J., 21 Aug 2015, In : Scientific Reports. 5, p. 1-14 14 p., 13416.

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47 Citations (Scopus)
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Evaluation of skin fibroblasts from amyotrophic lateral sclerosis patients for the rapid study of pathological features

Yang, S., Zhang, K. Y., Kariawasam, R., Bax, M., Fifita, J. A., Ooi, L., Yerbury, J. J., Nicholson, G. A. & Blair, I. P., 2 Aug 2015, In : Neurotoxicity Research. 28, 2, p. 138-146 9 p.

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10 Citations (Scopus)

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis

Fifita, J. A., Williams, K. L., McCann, E. P., O'Brien, A., Bauer, D. C., Nicholson, G. A. & Blair, I. P., 1 Mar 2015, In : Neurobiology of Aging. 36, 3, p. 1602.e1-1602.e2 2 p.

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10 Citations (Scopus)

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin

Williams, K. L., McCann, E. P., Fifita, J. A., Zhang, K., Duncan, E. L., Leo, P. J., Marshall, M., Rowe, D. B., Nicholson, G. A. & Blair, I. P., 1 Dec 2015, In : Neurobiology of Aging. 36, 12, p. 3334.e1-3334.e5 5 p.

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26 Citations (Scopus)

Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43

Moujalled, D., James, J. L., Yang, S., Zhang, K., Duncan, C., Moujalled, D. M., Parker, S. J., Caragounis, A., Lidgerwood, G., Turner, B. J., Atkin, J. D., Grubman, A., Liddell, J. R., Proepper, C., Boeckers, T. M., Kanninen, K. M., Blair, I., Crouch, P. J. & White, A. R., 15 Mar 2015, In : Human molecular genetics. 24, 6, p. 1655-1669 15 p., ddu578.

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19 Citations (Scopus)
2014

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

Farg, M. A., Sundaramoorthy, V., Sultana, J. M., Yang, S., Atkinson, R. A. K., Levina, V., Halloran, M. A., Gleeson, P. A., Blair, I. P., Soo, K. Y., King, A. E. & Atkin, J. D., 2014, In : Human molecular genetics. 23, 13, p. 3579-3595 17 p., ddu068.

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214 Citations (Scopus)

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

Smith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S., Kenna, K. P., Scotter, E. L., Kost, J., Keagle, P., Miller, J. W., Calini, D., Vance, C., Danielson, E. W., Troakes, C., Tiloca, C., Al-Sarraj, S., Lewis, E. A., King, A., Colombrita, C., Pensato, V. & 52 others, Castellotti, B., de Belleroche, J., Baas, F., ten Asbroek, A. L. M. A., Sapp, P. C., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Muñoz-Blanco, J. L., Simpson, M., van Rheenen, W., Diekstra, F. P., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Morrison, K. E., Williams, K. L., Nicholson, G. A., Blair, I. P., Dion, P. A., Leblond, C. S., Rouleau, G. A., Hardiman, O., Veldink, J. H., Van Den Berg, L. H., Al-Chalabi, A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., García-Redondo, A., Wu, Z., Glass, J. D., Gellera, C., Ratti, A., Brown, R. H., Silani, V., Shaw, C. E., Landers, J. E., SLAGEN Consortium, SLAGEN Consortium, SLAGEN Consortium, SLAGEN Consortium, SLAGEN Consortium, SLAGEN Consortium & SLAGEN Consortium, 28 Oct 2014, In : Neuron. 84, 2, p. 324-331 8 p.

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164 Citations (Scopus)

Mutant human FUS is ubiquitously mislocalized and generates persistent stress granules in primary cultured transgenic zebrafish cells

Acosta, J. R., Goldsbury, C., Winnick, C., Badrock, A. P., Fraser, S. T., Laird, A. S., Hall, T. E., Don, E. K., Fifita, J. A., Blair, I. P., Nicholson, G. A. & Cole, N. J., 9 Jun 2014, In : PLoS ONE. 9, 6, p. 1-9 9 p., e90572.

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Ubiquilin 2: A component of the ubiquitin-proteasome system with an emerging role in neurodegeneration

Zhang, K. Y., Yang, S., Warraich, S. T. & Blair, I. P., 2014, In : International Journal of Biochemistry and Cell Biology. 50, p. 123-126 4 p.

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30 Citations (Scopus)
2013

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

Farg, M. A., Soo, K. Y., Warraich, S. T., Sundaramoorthy, V., Blair, I. P. & Atkin, J. D., Feb 2013, In : Human molecular genetics. 22, 4, p. 717-728 12 p., dds479.

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Erbb4 mutations that disrupt the neuregulin-erbb4 pathway cause amyotrophic lateral sclerosis type 19

Takahashi, Y., Fukuda, Y., Yoshimura, J., Toyoda, A., Kurppa, K., Moritoyo, H., Belzil, V. V., Dion, P. A., Higasa, K., Doi, K., Ishiura, H., Mitsui, J., Date, H., Ahsan, B., Matsukawa, T., Ichikawa, Y., Moritoyo, T., Ikoma, M., Hashimoto, T., Kimura, F. & 20 others, Murayama, S., Onodera, O., Nishizawa, M., Yoshida, M., Atsuta, N., Sobue, G., Cals, J., Fifita, J. A., Williams, K. L., Blair, I. P., Nicholson, G. A., Gonzalez-Perez, P., Brown, R. H., Nomoto, M., Elenius, K., Rouleau, G. A., Fujiyama, A., Morishita, S., Goto, J. & Tsuji, S., 7 Nov 2013, In : American Journal of Human Genetics. 93, 5, p. 900-905 6 p.

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66 Citations (Scopus)

Exome sequencing to identify de novo mutations in sporadic ALS trios

Chesi, A., Staahl, B. T., Jovičić, A., Couthouis, J., Fasolino, M., Raphael, A. R., Yamazaki, T., Elias, L., Polak, M., Kelly, C., Williams, K. L., Fifita, J. A., Maragakis, N. J., Nicholson, G. A., King, O. D., Reed, R., Crabtree, G. R., Blair, I. P., Glass, J. D. & Gitler, A. D., 2013, In : Nature Neuroscience. 16, 7, p. 851-855 5 p.

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94 Citations (Scopus)

Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: Genetic, clinical and neuropathological analysis

Dobson-Stone, C., Luty, A. A., Thompson, E. M., Blumbergs, P., Brooks, W. S., Short, C. L., Field, C. D., Panegyres, P. K., Hecker, J., Solski, J. A., Blair, I. P., Fullerton, J. M., Halliday, G. M., Schofield, P. R. & Kwok, J. B. J., Apr 2013, In : Acta Neuropathologica. 125, 4, p. 523-533 11 p.

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9 Citations (Scopus)