Publications list for Associate Professor Roger Pamphlett

2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008


  • Pamphlett, R. (2014), Uptake of environmental toxicants by the locus ceruleus: A potential trigger for neurodegenerative, demyelinating and psychiatric disorders. Medical Hypotheses. 82, 97-104. [Abstract]


  • Simpson, M., Johanssen, V., Boyd, A., Klug, G., Masters, C., Li, Q., Pamphlett, R., McLean, C., Lewis, V., Collins, S. (2013), Unusual clinical and molecular-pathological profile of gerstmann-Straussler-Scheinker disease associated with a novel PRNP mutation (V176G). JAMA Neurology. 70(9), 1180-1185. [Abstract]
  • Pamphlett, R., Cheong, P., Trent, R., Yu, B. (2013), Can ALS-Associated C9orf72 Repeat Expansions be Diagnosed on a Blood DNA Test Alone?. PloS One. 8(7), e70007. [Abstract]
  • Yang, S., Fifita, J., Williams, K., Warraich, S., Pamphlett, R., Nicholson, G., Blair, I. (2013), Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of Aging. 34(9), 2235.e7-2235.e10. [Abstract]
  • Pamphlett, R., Kum Jew, S. (2013), Uptake of inorganic mercury by human locus ceruleus and corticomotor neurons: implications for amyotrophic lateral sclerosis. Acta Neuropathologica Communications. 1(1), 13. [Abstract]
  • Pamphlett, R., Kum Jew, S. (2013), Heavy metals in locus ceruleus and motor neurons in motor neuron disease. Acta Neuropathologica Communications. 1(1), 81. [Abstract]
  • Pamphlett, R., Rikard-Bell, A. (2013), Different occupations associated with amyotrophic lateral sclerosis: is diesel exhaust the link?. PloS One. 8(11), e80993. [Abstract]


  • Pamphlett, R., Fang, F. (2012), Season and weather patterns at time of birth in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis. 13(5), 459-464. [Abstract]
  • Pamphlett, R., Cheong, P., Trent, R., Yu, B. (2012), Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study. Neuroreport. 23(9), 556-559. [Abstract]
  • Pamphlett, R. (2012), Exposure to environmental toxins and the risk of sporadic motor neuron disease: an expanded Australian case-control study. European Journal of Neurology. 19(10), 1343-1348. [Abstract]
  • Majounie, E., Renton, A., Mok, K., Dopper, E., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., van Swieten, J., Abramzon, Y., Johnson, J., Sendtner, M., Pamphlett, R., Orrell, R., Mead, S., Sidle, K., Houlden, H., Rohrer, J., Morrison, K., Pall, H., Talbot, K., Ansorge, O., Hernandez, D., Arepalli, S., Sabatelli, M., Mora, G., Corbo, M., Giannini, F., Calvo, A., Englund, E., Borghero, G., Floris, G., Remes, A., Laaksovirta, H., McCluskey, L., Trojanowski, J., Van Deerlin, V., Schellenberg, G., Nalls, M., Drory, V., Lu, C., Yeh, T., Ishiura, H., Takahashi, Y., Tsuji, S., Le Ber, I., Brice, A., Drepper, C., Williams, N., Kirby, J., Shaw, P., Hardy, J., Tienari, P., Heutink, P., Morris, H., Pickering-Brown, S., Traynor, B. (2012), Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurology. 11(4), 323-330. [Abstract]
  • Solski, J., Yang, S., Nicholson, G., Luquin, N., Williams, K., Fernando, R., Pamphlett, R., Blair, I. (2012), A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis. 13(5), 465-470. [Abstract]
  • Pamphlett, R., Morahan, J., Luquin, N., Yu, B. (2012), An approach to finding brain-situated mutations in sporadic Parkinson's disease. Parkinsonism & related disorders. 18(1), 82-5. [Abstract]
  • Pamphlett, R., Ward, E. (2012), Smoking is not a risk factor for sporadic amyotrophic lateral sclerosis in an Australian population. Neuroepidemiology. 38(2), 106-113. [Abstract]


  • Pamphlett, R., Morahan, J., Luquin, N., Yu, B. (2011), Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis. Muscle & nerve. 44(4), 492-8. [Abstract]
  • Pamphlett, R. (2011), The "somatic-spread" hypothesis for sporadic neurodegenerative diseases. Medical hypotheses. 77(4), 544-7. [Abstract]
  • Pamphlett, R., Morahan, J. (2011), Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 18(9), 1231-4. [Abstract]
  • Pamphlett, R., Morahan, J., Yu, B. (2011), Using case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases. Journal of Neuroscience Methods. 197(2), 297-301. [Abstract]
  • Pamphlett, R., Jew, S. (2011), Inorganic mercury within motor neurons does not cause the TDP-43 changes seen in sporadic ALS. Toxicology letters. 201(1), 58-61. [Abstract]
  • Masters, C., Kril, J., Halliday, G., Pamphlett, R., Collins, S., Hill, A., McLean, C. (2011), Overview and recent advances in neuropathology. Part 2: Neurodegeneration. Pathology. 43(2), 93-102. [Abstract]


  • Pamphlett, R. (2010), Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology. , 1926; author reply 1926-7. [Abstract]
  • Luquin, N., Yu, B., Trent, R., Pamphlett, R. (2010), DHPLC can be used to detect low-level mutations in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis. 11(1-2), 76-82. [Abstract]


  • Luquin, N., Yu, B., Saunderson, R., Trent, R., Pamphlett, R. (2009), Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis. Neuromuscular Disorders. 19(10), 696-700. [Abstract]
  • Granot, R., Lawrence, R., Barnett, M., Masters, L., Rodriguez, M., Theocharous, C., Pamphlett, R., Hersch, M. (2009), What lies beneath the tent? JC-virus cerebellar granule cell neuronopathy complicating sarcoidosis. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 16(8), 1091-2. [Abstract]
  • Pamphlett, R., Luquin, N., McLean, C., Jew, S., Adams, L. (2009), TDP-43 neuropathology is similar in sporadic amyotrophic lateral sclerosis with or without TDP-43 mutations. Neuropathology and applied neurobiology. 35(0), 222-5. [Abstract]
  • Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2009), A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis. 10(5-6), 418-429. [Abstract]
  • Wills, A., Cronin, S., Slowik, A., Kasperaviciute, D., Van Es, M., Morahan, J., Valdmanis, P., Meininger, V., Melki, J., Shaw, C., Rouleau, G., Fisher, E., Shaw, P., Morrison, K., Pamphlett, R., Van den Berg, L., Figlewicz, D., Andersen, P., Al-Chalabi, A., Hardiman, O., Purcell, S., Landers, J., Brown, R. (2009), A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology. 73(1), 16-24. [Abstract]


  • Ruff, M., Pamphlett, R. (2008), A simple method for comparing microarray genotype data between brain and other tissues. Journal of neuroscience methods. 173(2), 315-7. [Abstract]
  • Pamphlett, R., Kum Jew, S. (2008), TDP-43 inclusions do not protect motor neurons from sporadic ALS. Acta neuropathologica. 116(2), 221-2. [Abstract]
  • Luquin, N., Yu, B., Trent, R., Morahan, J., Pamphlett, R. (2008), An analysis of the entire SOD1 gene in sporadic ALS. Neuromuscular disorders : NMD. 18(7), 545-52. [Abstract]
  • Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2008), A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. Journal of the neurological sciences. 267(0), 125-8. [Abstract]