| 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 | 77 | 2021 |
| Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations A Konopka, DR Whelan, MS Jamali, E Perri, H Shahheydari, RP Toth, ... Molecular neurodegeneration 15, 1-28, 2020 | 60 | 2020 |
| Semi-automated fact-checking of nucleotide sequence reagents in biomedical research publications: The Seek & Blastn tool C Labbé, N Grima, T Gautier, B Favier, JA Byrne PLoS One 14 (3), e0213266, 2019 | 57 | 2019 |
| A simple differentiation protocol for generation of induced pluripotent stem cell-derived basal forebrain-like cholinergic neurons for Alzheimer’s disease and frontotemporal … SS Muñoz, M Engel, R Balez, D Do-Ha, MC Cabral-da-Silva, ... Cells 9 (9), 2018, 2020 | 34 | 2020 |
| Amyotrophic lateral sclerosis-linked UBQLN2 mutants inhibit endoplasmic reticulum to Golgi transport, leading to Golgi fragmentation and ER stress M Halloran, AMG Ragagnin, M Vidal, S Parakh, S Yang, B Heng, N Grima, ... Cellular and Molecular Life Sciences 77, 3859-3873, 2020 | 31 | 2020 |
| Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord BG Trist, S Genoud, S Roudeau, A Rookyard, A Abdeen, V Cottam, ... Brain 145 (9), 3108-3130, 2022 | 30 | 2022 |
| The possibility of systematic research fraud targeting under-studied human genes: causes, consequences, and potential solutions JA Byrne, N Grima, A Capes-Davis, C Labbé Biomarker Insights 14, 1177271919829162, 2019 | 29 | 2019 |
| ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ SL Rayner, F Cheng, AL Hogan, N Grima, S Yang, YD Ke, CG Au, ... Human Molecular Genetics 30 (11), 971-984, 2021 | 21 | 2021 |
| Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration BG Trist, JA Fifita, A Hogan, N Grima, B Smith, C Troakes, C Vance, ... Acta Neuropathologica Communications 10 (1), 122, 2022 | 14 | 2022 |
| 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 | 11 | 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 | 9 | 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 | 8 | 2023 |
| Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancer DE Sylvester, Y Chen, N Grima, F Saletta, B Padhye, B Bennetts, D Wright, ... Genes, Chromosomes and Cancer 61 (2), 81-93, 2022 | 4 | 2022 |
| Simultaneous isolation of high-quality RNA and DNA from postmortem human central nervous system tissues for omics studies N Grima, L Henden, O Watson, IP Blair, KL Williams Journal of Neuropathology & Experimental Neurology 81 (2), 135-145, 2022 | 3 | 2022 |
| RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery N Grima, S Liu, D Southwood, L Henden, A Smith, A Lee, DB Rowe, ... Neuropathology and Applied Neurobiology 49 (6), e12943, 2023 | 2 | 2023 |
| Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants EP McCann, N Grima, JA Fifita, S Chan Moi Fat, K Lehnert, L Henden, ... Journal of Neuromuscular Diseases 10 (6), 1127-1141, 2023 | | 2023 |
| NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk N Grima, L Henden, LG Fearnley, DB Rowe, S D'Silva, R Pamphlett, ... Neurobiology of Aging 116, 92-95, 2022 | | 2022 |
| Mutant Cyclin F Impedes COPII Vesicle-Mediated ER-Golgi Trafficking and ER-Associated Degradation, Inducing ER Stress and Golgi Fragmentation in ALS/FTD R AMG, V Sundaramoorthy, M Vidal, CJ Jagaraj, S Shadfar, M Brocardo, ... | | 2021 |
| Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis. IP Blair, L Henden, JA Fifita, KY Zhang, N Grima, DC Bauer, SCM Fat, ... | | 2021 |
| A functional pipeline for the validation of novel amyotrophic lateral sclerosis (ALS) candidate genes N Grima, S Wu, J Fifita, E McCann, SCM Fat, J Galper, S Freckleton, ... Macquarie Neurodegeneration, 53, 2019 | | 2019 |
