• 1334 Citations
  • 14 h-Index
20112020

Research output per year

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Research Outputs

  • 1334 Citations
  • 14 h-Index
  • 30 Article
  • 2 Meeting abstract
  • 1 Letter
  • 1 Review article
2011

A yeast functional screen predicts new candidate ALS disease genes

Couthouisa, J., Harta, M. P., Shorter, J., DeJesus-Hernandez, M., Erion, R., Oristano, R., Liu, A. X., Ramos, D., Jethava, N., Hosangadi, D., Epstein, J., Chiang, A., Diaz, Z., Nakaya, T., Ibrahim, F., Kim, H. J., Solski, J. A., Williams, K. L., Mojsilovic-Petrovic, J., Ingre, C. & 21 others, Boylan, K., Graff-Radford, N. R., Dickson, D. W., Clay-Falcone, D., Elman, L., McCluskey, L., Greene, R., Kalb, R. G., Lee, V. M. Y., Trojanowski, J. Q., Ludolph, A., Robberecht, W., Andersen, P. M., Nicholson, G. A., Blair, I. P., King, O. D., Bonini, N. M., Van, V. D., Rademakers, R., Mourelatos, Z. & Gitler, A. D., 27 Dec 2011, In : Proceedings of the National Academy of Sciences of the United States of America. 108, 52, p. 20881-20890 10 p.

Research output: Contribution to journalArticle

242 Citations (Scopus)
2012

A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis

Solski, J. A., Yang, S., Nicholson, G. A., Luquin, N., Williams, K. L., Fernando, R., Pamphlett, R. & Blair, I. P., Sep 2012, In : Amyotrophic Lateral Sclerosis. 13, 5, p. 465-470 6 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

Couthouis, J., Hart, M. P., Erion, R., King, O. D., Diaz, Z., Nakaya, T., Ibrahim, F., Kim, H. J., Mojsilovic-petrovic, J., Panossian, S., Kim, C. E., Frackelton, E. C., Solski, J. A., Williams, K. L., Clay-falcone, D., Elman, L., McCluskey, L., Greene, R., Hakonarson, H., Kalb, R. G. & 9 others, Lee, V. M. Y., Trojanowski, J. Q., Nicholson, G. A., Blair, I. P., Bonini, N. M., Van Deerlin, V. M., Mourelatos, Z., Shorter, J. & Gitler, A. D., Jul 2012, In : Human Molecular Genetics. 21, 13, p. 2899-2911 13 p., dds116.

Research output: Contribution to journalArticle

164 Citations (Scopus)

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis

Solski, J. A., Williams, K. L., Yang, S., Nicholson, G. A. & Blair, I. P., Jan 2012, In : Neurobiology of Aging. 33, 1, p. 210.e9–210.e10 2 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)

Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis

Williams, K. L., Solski, J. A., Nicholson, G. A. & Blair, I. P., Jul 2012, In : Neurobiology of Aging. 33, 7, p. 1488.e15-1488.e16 2 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

Williams, K. L., Warraich, S. T., Yang, S., Solski, J. A., Fernando, R., Rouleau, G. A., Nicholson, G. A. & Blair, I. P., Oct 2012, In : Neurobiology of Aging. 33, 10, p. 2527.e3–2527.e10 8 p.

Research output: Contribution to journalArticle

99 Citations (Scopus)
2013

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.

Research output: Contribution to journalArticle

69 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.

Research output: Contribution to journalArticle

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.

Research output: Contribution to journalArticle

9 Citations (Scopus)

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis

Yang, S., Fifita, J. A., Williams, K. L., Warraich, S. T., Pamphlett, R., Nicholson, G. A. & Blair, I. P., Sep 2013, In : Neurobiology of Aging. 34, 9, p. 2235.e7-2235.e10 4 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)

Pathophysiological insights into ALS with C9ORF72 expansions

Williams, K. L., Fifita, J. A., Vucic, S., Durnall, J. C., Kiernan, M. C., Blair, I. P. & Nicholson, G. A., 2013, In : Journal of Neurology, Neurosurgery and Psychiatry. 84, 8, p. 931-935 5 p.

Research output: Contribution to journalArticle

62 Citations (Scopus)
2014

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.

Research output: Contribution to journalArticle

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

Protein disulfide isomerase gene variants are associated with amyotrophic lateral sclerosis

Woehlbier, U., Gonzalez-Perez, P., Colombo, A., Saaranen, M. J., Andreu, C. I., Bustos, F., Lopez-Gonzalez, R., Ojeda, J., Perez, V., Torres, M. S., Valenzuela, V., Vidal, R. L., Medinas, D., Fernandez, S., Campero, M., Armisen, R., Sagredo, A., Palma, K., Salameh, J., Irrazabal, T. & 18 others, Chian, R-J., Sapp, P., Blair, I., Williams, K., Fifita, J., Nicholson, G., Rouleau, G., Leblond, C., Daoud, H., Dion, P., Gao, F-B., Henny, P., Henriquez, J. P., van Zundert, B., Ruddock, L., Concha, M., Brown, R. H. & Hetz, C., Sep 2014, In : FEBS Journal. 281, S1, p. 378-379 2 p.

Research output: Contribution to journalMeeting abstract

2015

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.

Research output: Contribution to journalArticle

35 Citations (Scopus)

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.

Research output: Contribution to journalArticle

11 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.

Research output: Contribution to journalArticle

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.

Research output: Contribution to journalArticle

26 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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83 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.

Research output: Contribution to journalArticle

165 Citations (Scopus)
2017
12 Citations (Scopus)

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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19 Citations (Scopus)
9 Downloads (Pure)
7 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

11 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

8 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

18 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

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

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

108 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)
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

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)
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

4 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

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)