Emily P McCann
Emily P McCann
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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
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
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
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
Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development
S Thomas-Jinu, PM Gordon, T Fielding, R Taylor, BN Smith, V Snowden, ...
Neuron 94 (2), 322-336. e5, 2017
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
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
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
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
Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression
IS Tarr, EP McCann, B Benyamin, TJ Peters, NA Twine, KY Zhang, ...
Scientific reports 9 (1), 8254, 2019
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
Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis
JA Fifita, KY Zhang, J Galper, KL Williams, EP McCann, AL Hogan, ...
Neurodegenerative Diseases 17 (6), 304-312, 2017
Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases
L Henden, NA Twine, P Szul, EP McCann, GA Nicholson, DB Rowe, ...
NPJ genomic medicine 5 (1), 32, 2020
Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis
JA Fifita, KL Williams, EP McCann, A O'Brien, DC Bauer, GA Nicholson, ...
Neurobiology of aging 36 (3), 1602. e1-1602. e2, 2015
Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis
AL Hogan, N Grima, JA Fifita, EP McCann, B Heng, SCM Fat, S Wu, ...
Neuropathology and Applied Neurobiology 47 (7), 990-1003, 2021
Genetic analysis of tryptophan metabolism genes in sporadic amyotrophic lateral sclerosis
JA Fifita, S Chan Moi Fat, EP McCann, KL Williams, NA Twine, DC Bauer, ...
Frontiers in immunology 12, 701550, 2021
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice
EP McCann, JA Fifita, N Grima, J Galper, P Mehta, SE Freckleton, ...
Journal of Neurology, Neurosurgery & Psychiatry 91 (2), 162-171, 2020
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
L Henden, LG Fearnley, N Grima, EP McCann, C Dobson-Stone, ...
Science Advances 9 (18), eade2044, 2023
TRIBES: A user-friendly pipeline for relatedness detection and disease gene discovery
NA Twine, P Szul, L Henden, EP McCann, IP Blair, KL Williams, DC Bauer
bioRxiv, 686253, 2019
Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis
SCM Fat, EP McCann, KL Williams, L Henden, NA Twine, DC Bauer, ...
Neurobiology of Aging 101, 297. e9-297. e11, 2021
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