• 7562 Citations
  • 31 h-Index
19952020

Research output per year

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Research Outputs

2020

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., Oct 2020, In : Cellular and Molecular Life Sciences. 77, 19, p. 3859-3873 15 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

A simple differentiation protocol for generation of induced pluripotent stem cell-derived basal forebrain-like cholinergic neurons for Alzheimer’s disease and frontotemporal dementia disease modeling

Muñoz, S. S., Engel, M., Balez, R., Do-Ha, D., Cabral-da-Silva, M. C., Hernández, D., Berg, T., Fifita, J. A., Grima, N., Yang, S., Blair, I. P., Nicholson, G., Cook, A. L., Hewitt, A. W., Pébay, A. & Ooi, L., 2 Sep 2020, In : Cells. 9, 9, p. 1-17 17 p., 2018.

Research output: Contribution to journalArticle

Open Access
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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

6 Citations (Scopus)

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

2 Citations (Scopus)

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

1 Citation (Scopus)

Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases

Henden, L., Twine, N. A., Szul, P., McCann, E. P., Nicholson, G. A., Rowe, D. B., Kiernan, M. C., Bauer, D. C., Blair, I. P. & Williams, K. L., 7 Aug 2020, In : npj Genomic Medicine. 5, 1, p. 1-8 8 p., 32.

Research output: Contribution to journalArticle

Open Access
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Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

Konopka, A., Whelan, D. R., Jamali, M. S., Perri, E., Shahheydari, H., Toth, R. P., Parakh, S., Robinson, T., Cheong, A., Mehta, P., Vidal, M., Ragagnin, A. M. G., Khizhnyak, I., Jagaraj, C. J., Galper, J., Grima, N., Deva, A., Shadfar, S., Nicholson, G. A., Yang, S. & 6 others, Cutts, S. M., Horejsi, Z., Bell, T. D. M., Walker, A. K., Blair, I. P. & Atkin, J. D., 9 Sep 2020, In : Molecular Neurodegeneration. 15, 1, p. 1-28 28 p., 51.

Research output: Contribution to journalArticle

Open Access
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3 Downloads (Pure)

Neuronal intranuclear inclusion disease is genetically heterogeneous

Chen, Z., Yan Yau, W., Jaunmuktane, Z., Tucci, A., Sivakumar, P., Gagliano Taliun, S. A., Turner, C., Efthymiou, S., Ibáñez, K., Sullivan, R., Bibi, F., Athanasiou-Fragkouli, A., Bourinaris, T., Zhang, D., Revesz, T., Lashley, T., DeTure, M., Dickson, D. W., Josephs, K. A., Gelpi, E. & 15 others, Kovacs, G. G., Halliday, G., Rowe, D. B., Blair, I., Tienari, P. J., Suomalainen, A., Fox, N. C., Wood, N. W., Lees, A. J., Haltia, M. J., Genomics England Research Consortium, Hardy, J., Ryten, M., Vandrovcova, J. & Houlden, H., Sep 2020, In : Annals of Clinical and Translational Neurology. 7, 9, p. 1716-1725 10 p.

Research output: Contribution to journalArticle

Open Access
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Sensitive detection of motor neuron disease derived exosomal miRNA using electrocatalytic activity of gold-loaded superparamagnetic ferric oxide nanocubes

Masud, M. K., Mahmudunnabi, R. G., Aziz, N. B., Stevens, C. H., Do-Ha, D., Yang, S., Blair, I. P., Hossain, M. S. A., Shim, Y. B., Ooi, L., Yamauchi, Y. & Shiddiky, M. J. A., 17 Aug 2020, In : ChemElectroChem. 7, 16, p. 3459-3467 9 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

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
1 Citation (Scopus)
4 Downloads (Pure)

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
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5 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

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

6 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

15 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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Genetic testing for familial amyotrophic lateral sclerosis (ALS): insights and challenges

Crook, A., Hogden, A., Mumford, V., Blair, I. P., Williams, K. L. & Rowe, D. B., 1 Nov 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20, Supplement 1, p. 327 1 p., CMS-01.

Research output: Contribution to journalMeeting abstract

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., 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., 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
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7 Citations (Scopus)
16 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
2 Citations (Scopus)
9 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

5 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

5 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

8 Citations (Scopus)
Open Access
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19 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

9 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

127 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
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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

10 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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30 Citations (Scopus)
8 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

9 Citations (Scopus)
2017
14 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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7 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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20 Citations (Scopus)
10 Downloads (Pure)
8 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

12 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

9 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.

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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.

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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.

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9 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.

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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.

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19 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.

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19 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.

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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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180 Citations (Scopus)