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Jennifer Ann Fifita
Jennifer Ann Fifita
Centre for MND Research, Macquarie University
Verified email at mq.edu.au - Homepage
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Cited by
Cited by
Year
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
W Van Rheenen, A Shatunov, AM Dekker, RL McLaughlin, FP Diekstra, ...
Nature genetics 48 (9), 1043-1048, 2016
5882016
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
5762018
A yeast functional screen predicts new candidate ALS disease genes
J Couthouis, MP Hart, J Shorter, M DeJesus-Hernandez, R Erion, ...
Proceedings of the National Academy of Sciences 108 (52), 20881-20890, 2011
4412011
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
J Couthouis, MP Hart, R Erion, OD King, Z Diaz, T Nakaya, F Ibrahim, ...
Human molecular genetics 21 (13), 2899-2911, 2012
2982012
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
KL Williams, S Topp, S Yang, B Smith, JA Fifita, ST Warraich, KY Zhang, ...
Nature communications 7 (1), 11253, 2016
2192016
UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis
KL Williams, ST Warraich, S Yang, JA Solski, R Fernando, GA Rouleau, ...
Neurobiology of aging 33 (10), 2527. e3-2527. e10, 2012
1942012
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19
Y Takahashi, Y Fukuda, J Yoshimura, A Toyoda, K Kurppa, H Moritoyo, ...
The American Journal of Human Genetics 93 (5), 900-905, 2013
1692013
Exome sequencing to identify de novo mutations in sporadic ALS trios
A Chesi, BT Staahl, A Jovičić, J Couthouis, M Fasolino, AR Raphael, ...
Nature neuroscience 16 (7), 851-855, 2013
1622013
Pathophysiological insights into ALS with C9ORF72 expansions
KL Williams, JA Fifita, S Vucic, JC Durnall, MC Kiernan, IP Blair, ...
Journal of Neurology, Neurosurgery & Psychiatry 84 (8), 931-935, 2013
1122013
Defects in optineurin-and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis
V Sundaramoorthy, AK Walker, V Tan, JA Fifita, EP Mccann, KL Williams, ...
Human molecular genetics 24 (13), 3830-3846, 2015
962015
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis
B Benyamin, J He, Q Zhao, J Gratten, F Garton, PJ Leo, Z Liu, ...
Nature communications 8 (1), 611, 2017
922017
Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians
J Roggenbuck, A Quick, SJ Kolb
Genetics in Medicine 19 (3), 267-274, 2017
802017
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
EP McCann, L Henden, JA Fifita, KY Zhang, N Grima, DC Bauer, SCM Fat, ...
Journal of medical genetics 58 (2), 87-95, 2021
772021
CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis
C Dobson-Stone, M Hallupp, H Shahheydari, AMG Ragagnin, ...
Brain 143 (3), 783-799, 2020
672020
The genotype–phenotype landscape of familial amyotrophic lateral sclerosis in Australia
EP McCann, KL Williams, JA Fifita, IS Tarr, J O'connor, DB Rowe, ...
Clinical genetics 92 (3), 259-266, 2017
612017
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype
AL Hogan, EK Don, SL Rayner, A Lee, AS Laird, M Watchon, C Winnick, ...
Human molecular genetics 26 (14), 2616-2626, 2017
462017
Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin
KL Williams, EP McCann, JA Fifita, K Zhang, EL Duncan, PJ Leo, ...
Neurobiology of aging 36 (12), 3334. e1-3334. e5, 2015
442015
Evaluation of skin fibroblasts from amyotrophic lateral sclerosis patients for the rapid study of pathological features
S Yang, KY Zhang, R Kariawasam, M Bax, JA Fifita, L Ooi, JJ Yerbury, ...
Neurotoxicity research 28, 138-146, 2015
422015
A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro
JA Fifita, KL Williams, V Sundaramoorthy, EP Mccann, GA Nicholson, ...
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 18 (1-2), 126-133, 2017
392017
A simple differentiation protocol for generation of induced pluripotent stem cell-derived basal forebrain-like cholinergic neurons for Alzheimer’s disease and frontotemporal …
SS Muņoz, M Engel, R Balez, D Do-Ha, MC Cabral-da-Silva, ...
Cells 9 (9), 2018, 2020
342020
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