• 320 Citations
  • 9 h-Index
20152019
If you made any changes in Pure these will be visible here soon.

Research Outputs 2015 2019

  • 320 Citations
  • 9 h-Index
  • 13 Article
  • 1 Meeting abstract
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 abstractResearchpeer-review

Amyotrophic Lateral Sclerosis
Genes
Pathology
Detergents
Proteolysis

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 othersKiernan, M. C., Atkin, J., Rowe, D. B., Nicholson, G. A., Walker, A. K., Blair, I. P. & Yang, S., 5 Nov 2019, In : Journal of Neurology, Neurosurgery and Psychiatry.

Research output: Contribution to journalArticleResearchpeer-review

Sclerosis
DNA-Binding Proteins
Transgenic Mice
Spinal Cord
Proteins

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 journalArticleResearchpeer-review

Open Access
File
Monozygotic Twins
Amyotrophic Lateral Sclerosis
Methylation
Gene Expression
Genes
2017

A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro

Fifita, J. A., Williams, K. L., Sundaramoorthy, V., Mccann, E. P., Nicholson, G. A., Atkin, J. D. & Blair, I. P., 2 Jan 2017, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 18, 1-2, p. 126-133 8 p.

Research output: Contribution to journalArticleResearchpeer-review

Amyotrophic Lateral Sclerosis
Mutation
Genes
In Vitro Techniques

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 othersHarris, 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 journalArticleResearchpeer-review

Open Access
File
Amyotrophic Lateral Sclerosis
loci
Genetic Crosses
Meta-Analysis
Genes

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 journalArticleResearchpeer-review

Amyotrophic Lateral Sclerosis
Mutation
Heterogeneous-Nuclear Ribonucleoproteins
Prions
Motor Neurons

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 othersHouart, C., 19 Apr 2017, In : Neuron. 94, 2, p. 322-336 15 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
File
Axons
Zebrafish
Exome
Motor Neurons
Nuclear Proteins

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 journalArticleResearchpeer-review

Spectrin
Transgenes
Genes
Muscle Spasticity
Extremities

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 journalArticleResearchpeer-review

Amyotrophic Lateral Sclerosis
Genotype
Phenotype
Mutation
Genetic Association Studies
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 othersGraff-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 journalArticleResearchpeer-review

Open Access
File
Ubiquitinated Proteins
mutations
Ubiquitin-Protein Ligase Complexes
proteins
Mutation

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 othersHarschnitz, 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 journalArticleResearchpeer-review

Genome-Wide Association Study
Amyotrophic Lateral Sclerosis
Genome
Chromosomes, Human, Pair 21
Single Nucleotide Polymorphism
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 journalArticleResearchpeer-review

Amyotrophic Lateral Sclerosis
Motor Neurons
Lysosomes
Autophagy
Mutation

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 journalArticleResearchpeer-review

Mutation
Amyotrophic Lateral Sclerosis
Exome
Motor Neurons
Neurodegenerative Diseases

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 journalArticleResearchpeer-review

Phosphotransferases
Mutation
Frameshift Mutation
Exome
NF-kappa B