Roger Pamphlett

29PUBLICATIONS
132CO-AUTHORS
Neurology and neuromuscular diseasesGenetics not elsewhere classifiedHaematological tumoursEpigenetics (incl. genome methylation and epigenomics)Neurogenetics
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Publications (29)

|Jun 18, 2026
Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile.

|Dec 10, 2025
Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report.

Himath Siriniwasa, Macken James Laurence Stirling, Siobhan Kean

|May 10, 2024
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry.

Lyndal Henden, Liam G Fearnley, Dean Southwood

|May 05, 2023
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.

Lyndal Henden, Liam G Fearnley, Natalie Grima

|Jan 12, 2023
Potentially toxic elements in the brains of people with multiple sclerosis.

Roger Pamphlett, Michael E Buckland, David P Bishop

|Feb 23, 2022
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.

Paul J Hop, Ramona A J Zwamborn, Eilis Hannon

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Frequent Collaborators

7 joint publications

Kelly L Williams

7 joint publications

Dominic B Rowe

5 joint publications

Naomi R Wray

4 joint publications

Wouter van Rheenen