Author
Macquarie UniversityORCID 0000-0001-6319-9473Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
7 papers
Recent·Most cited
Zoe N. Zussa, Andrew Smith, Joke J.F.A. van Vugt…·Lyndal Henden
This study examines ZFHX3 GGC repeat expansions in ALS and finds no association with disease risk, but identifies diverse repeat motif compositions.
Kyrah M. Thumbadoo, Laura R. Nementzik, Molly E.V. Swanson…·Emma L. Scotter
This paper performs a meta-analysis of UBQLN2 genetic variants in ALS/FTD, finding sex-specific differences in age at onset and aggregate burden in brain tissue.
Munishikha Kalia, Mattia Miotto, Deborah Ness…·Alfredo Iacoangeli
This study uses molecular dynamics and clinical data to show structural and dynamic differences between WTL and MBR SOD1 variants, linking these to distinct ALS clinical outcomes.
Kyrah M. Thumbadoo, Birger Victor Dieriks, Helen C. Murray…·Emma L. Scotter
The paper identifies a hippocampal protein aggregation signature that distinguishes pathogenic from wildtype UBQLN2 in ALS/FTD cases.
Alison L. Hogan, Natalie Grima, Jennifer A. Fifita…·Ian P. Blair
This study examines SFPQ dysregulation in ALS patients, finding increased intron retention, reduced mRNA expression in motor cortex, and cytoplasmic aggregates.
Lyndal Henden, Natalie A. Twine, Piotr Szul…·Kelly L. Williams
Natalie A. Twine, Piotr Szul, Lyndal Henden…·Denis C. Bauer
TRIBES detects genomic relatedness up to 7th degree relatives and identifies disease susceptibility loci using a single pipeline.