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Molecular Neurodegeneration|April 24, 2025
Multi-region brain transcriptomic analysis of amyotrophic lateral sclerosis reveals widespread RNA alterations and substantial cerebellum involvementNatalie Grima, Andrew N Smith, Claire E Shepherd, et al.NPJ Genomic Medicine|August 14, 2020
Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS casesLyndal Henden, Natalie A Twine, Piotr Szul, et al.Neurobiology of Aging|May 25, 2022
NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis riskNatalie Grima, Lyndal Henden, Liam G Fearnley, et al.Neurobiology of Aging|February 14, 2021
Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosisSandrine Chan Moi Fat, Emily P McCann, Kelly L Williams, et al.Journal of Medical Genetics|May 16, 2020
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosisEmily P McCann, Lyndal Henden, Jennifer A Fifita, et al.The Medical Journal of Australia|March 24, 2026
Motor Neuron Disease Mortality Trends in Australia From 1986 to 2023: A Population-Based StudyCarol M Y Lee, Rupendra N Shrestha, Julian Gold, et al.Brain : a Journal of Neurology|May 4, 2024
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementiaKyrah M Thumbadoo, Birger V Dieriks, Helen C Murray, et al.Journal of the Neurological Sciences|May 27, 2025
The genetics of motor neuron disease in New ZealandMiran Mrkela, Miriam Rodrigues, Serey Naidoo, et al.Neuropathology and Applied Neurobiology|July 21, 2021
Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosisAlison L Hogan, Natalie Grima, Jennifer A Fifita, et al.Science Advances|May 5, 2023
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementiaLyndal Henden, Liam G Fearnley, Natalie Grima, et al.Pageof 3