Ian Blair

Professor

  • 7053 Citations
  • 31 h-Index
1995 …2024

Research output per year

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Research Outputs

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

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

Open Access
File

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.

Research output: Contribution to journalArticle

Open Access
File
2 Downloads (Pure)
2019

A functional pipeline for the validation of novel amyotrophic lateral sclerosis (ALS) candidate genes

Yang, S., Wu, S., Fifita, J., McCann, E., Fat, S. C. M., Galper, J., Freckleton, S., Zhang, K. Y. & Blair, I. P., 1 Nov 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20, Supplement 1, p. 135 1 p., IVT-01.

Research output: Contribution to journalMeeting abstract

Amyotrophic lateral sclerosis-linked UBQLN2 mutants inhibit endoplasmic reticulum to Golgi transport, leading to Golgi fragmentation and ER stress

Halloran, M., Ragagnin, A. M. G., Vidal, M., Parakh, S., Yang, S., Heng, B., Grima, N., Shahheydari, H., Soo, K-Y., Blair, I., Guillemin, G. J., Sundaramoorthy, V. & Atkin, J. D., 4 Dec 2019, In : Cellular and Molecular Life Sciences. 15 p.

Research output: Contribution to journalArticle

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
File
6 Downloads (Pure)

Modulation of protein accumulation and uses therefor

Rayner, S., Lee, A., Chung, R. & Blair, I., 9 May 2019, IPC No. C12N 15/861 (2006.01), A61K 48/00 (2006.01), C12Q 1/68 (2018.01), Patent No. AU2017353361, 7 Nov 2017, Priority date 7 Nov 2017, Priority No. WO2017AU51225

Research output: Patent

Open Access

Modulation of protein accumulation and uses therefor

Rayner, S., Lee, A., Chung, R. & Blair, I., 11 Sep 2019, IPC No. C12N 15/861, A61K 48/00, C12Q 1/68, Patent No. EP3535403, Priority date 7 Nov 2017, Priority No. WO2017AU51225

Research output: Patent

Open Access

Modulation of protein accumulation and uses therefor

Rayner, S., Lee, A., Chung, R. & Blair, I., 3 Oct 2019, IPC No. A61K 48/00, A61P 25/28, C12N 15/86, C07K 14/47, G01N 33/50, Patent No. US20190298860, Priority date 7 Nov 2017, Priority No. WO2017AU51225

Research output: Patent

Open Access

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
File
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
File
1 Citation (Scopus)
7 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., Morsch, M., Hogan, A., Don, E., Williams, K., Yerbury, J. J., Blair, I., Atkin, J. D., Molloy, M. P. & Chung, R. S., 8 Feb 2019. 1 p.

Research output: Contribution to conferenceAbstract

The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling

Crook, A., McEwen, A., Fifita, J. A., Zhang, K., Kwok, J. B., Halliday, G., Blair, I. P. & Rowe, D. B., Jul 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20, 5-6, p. 310-316 7 p.

Research output: Contribution to journalReview article

4 Citations (Scopus)

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

4 Citations (Scopus)
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 journalLetter

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

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

4 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

85 Citations (Scopus)

Modulation of protein accumulation and uses therefor

Rayner, S., Lee, A., Chung, R. & Blair, I., 11 May 2018, IPC No. C12N 15/861 (2006.01), A61K 48/00 (2006.01), C12Q 1/68 (2018.01), Patent No. WO2018081878, 7 Nov 2017, Priority date 23 Mar 2017, Priority No. AU20170901026

Research output: Patent

Open Access

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
File
2 Citations (Scopus)
13 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

6 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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18 Citations (Scopus)
7 Downloads (Pure)

Reconsidering the causality of TIA1 mutations in ALS

van der Spek, R. A., van Rheenen, W., Pulit, S. L., Kenna, K. P., Ticozzi, N., Kooyman, M., Mclaughlin, R. L., Moisse, M., van Eijk, K. R., van Vugt, J. J. F. A., Iacoangeli, A., Andersen, P., Blair, I., de Carvalho, M., Chio, A., Corcia, P., Couratier, P., Drory, V. E., Glass, J. D., Hardiman, O. & 16 others, Mora, J. S., Morrison, K. E., Mitne-Neto, M., Robberecht, W., Shaw, P. J., Panadés, M. P., van Damme, P., Silani, V., Gotkine, M., Weber, M., van Es, M. A., Landers, J. E., Al-Chalabi, A., van den Berg, L. H., Veldink, J. H. & Project MinE ALS Sequencing Consortium, 2 Jan 2018, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 19, 1-2, p. 1-3 3 p.

Research output: Contribution to journalEditorial

8 Citations (Scopus)
2017
11 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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15 Citations (Scopus)
9 Downloads (Pure)

Cyclin F: a component of an E3 ubiquitin ligase complex with roles in neurodegeneration and cancer

Galper, J., Rayner, S. L., Hogan, A. L., Fifita, J. A., Lee, A., Chung, R. S., Blair, I. P. & Yang, S., 1 Aug 2017, In : International Journal of Biochemistry and Cell Biology. 89, p. 216-220 5 p.

Research output: Contribution to journalArticle

5 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

9 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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37 Citations (Scopus)
12 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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18 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

5 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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6 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

15 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

14 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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74 Citations (Scopus)
15 Downloads (Pure)

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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148 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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83 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)

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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33 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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44 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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9 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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18 Citations (Scopus)