Associate Professor Roger Pamphlett

Associate Professor
Pathology, School of Medical Sciences
Bosch Institute

Telephone +61 2 9351 3318
Fax +61 2 9351 3429

Map

Research interests

To find environmental toxins, genetic variants, or gene-environmental interactions that cause motor neuron disease (amyotrophic lateral sclerosis).

Selected grants

2012

  • Using trios to find the cause of motor neuron disease; Pamphlett R; National Health and Medical Research Council (NHMRC)/Project Grants.

2011

  • Looking for de novo mutations in sporadic ALS using trios and next generation sequencing; Pamphlett R; Motor Neurone Disease Research Institute of Australia/Motor Neurone Disease Research Grants.

2010

  • Looking for abnormal gene expression in ALS spinal cords using next-generation sequencing; Pamphlett R, Yu B; Motor Neurone Disease Research Institute of Australia/Motor Neurone Disease Research Grants.
  • MND DNA Bank; Pamphlett R, Adams L; Motor Neurone Disease Associaton of Victoria (MND Victoria)/Research Support.

2009

  • A new Laser Microdissection Microscope with a unique pressure catapulting technique allows isolation of pure samples for subsequent downstream molecular analyses; Halliday G, Morris B, Mason R, Murphy C, Bishop A, Leamey C, Joshua D, Lee C, Iland H, Pamphlett R, Richardson D, King N, Hunt N, Arnold J, Morris M, Protti D; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2008

  • Somatic mutations in ALS; Pamphlett R; University of Sydney/Bridging Support.

2007

  • Somatic mutations in motor neuron disease; Pamphlett R; Brain Foundation of Australia/Research Grants.

2006

  • The Australian Motor Neuron Disease Dna Bank; Pamphlett R; National Health and Medical Research Council (NHMRC)/Enabling Grants.
  • Somatic mutations in motor neuron disease; Pamphlett R; Motor Neurone Disease Research Institute of Australia/Motor Neurone Disease Research Grants.
  • Somatic mutations in motor neuron disease; Pamphlett R; Motor Neurone Disease Association of South Australia Inc/Project.

2005

  • Somatic mutations in motor neuron disease; Pamphlett R; University of Sydney/Bridging Support.
  • Gene-environment interactions in motor neuron disease.; Pamphlett R, Whitelaw E, Tate R; Motor Neurone Disease Research Institute of Australia/Motor Neurone Disease Research Grants.
  • Gene-environment interactions in motor neuron disease.; Pamphlett R, Trent R; Australian Rotary Health Research Fund/Motor Neurone Disease.

2004

  • Gene-environment Interactions in Motor Neurone Disease; Pamphlett R; Gene-environment Interaction in Motor Neurone Disease/Research Grant.

2002

  • Gene-environment interactions in motor neuron disease; Pamphlett R; Motor Neurone Disease Research Institute of Australia/Research Grant.

2001

  • The NSW DNA bank for motor neurone disease. Phase 2: continuing specimen collection for the DNA bank; Pamphlett R; Motor Neurone Disease Research Institute of Australia/Research Grant.

2000

  • The role of mercury in sporadic motor neuron disease; Pamphlett R; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Free radical production in MND lymphocytes; Pamphlett R; ALS Motor Neurone Disease Research Institute Incorporated/Research Grants-in-Aid.

Selected publications

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Journals

  • Pamphlett, R. (2014). Uptake of environmental toxicants by the locus ceruleus: A potential trigger for neurodegenerative, demyelinating and psychiatric disorders. Medical Hypotheses, 82(1), 97-104. [More Information]
  • 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), 1-6. [More Information]
  • Pamphlett, R., Rikard-Bell, A. (2013). Different Occupations Associated with Amyotrophic Lateral Sclerosis: Is Diesel Exhaust the Link? PLoS One, 8(11), 1-10. [More Information]
  • Pamphlett, R., Kum Jew, S. (2013). Heavy metals in locus ceruleus and motor neurons in motor neuron disease. Acta Neuropathologica Communications, 1(1), 1-15. [More Information]
  • 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. [More Information]
  • 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-sträussler-scheinker disease associated with a novel PRNP mutation (V176G). JAMA Neurology, 70(9), 1180-1185. [More Information]
  • 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), 1-11. [More Information]
  • 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 and Frontotemporal Degeneration, 13(5), 465-470. [More Information]
  • 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), 82-85. [More Information]
  • 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. [More Information]
  • Majounie, E., Renton, A., Mok, K., Dopper, E., Waite, A., Rollinson, S., Chio, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., Pamphlett, R., et al (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. [More Information]
  • Pamphlett, R., Fang, F. (2012). Season and weather patterns at time of birth in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 13(5), 459-464. [More Information]
  • Pamphlett, R., Cochran, E. (2012). Smoking is not a risk factor for sporadic amyotrophic lateral sclerosis in an Australian population. Neuroepidemiology, 38(2), 106-113. [More Information]
  • 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. [More Information]
  • Pamphlett, R., Morahan, J. (2011). Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis. Journal of Clinical Neuroscience, 18(9), 1231-1234. [More Information]
  • Pamphlett, R., Kum 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. [More Information]
  • 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 and Nerve, 44(4), 492-498. [More Information]
  • Masters, C., Kril, J., Halliday, G., Pamphlett, R., Collins, S., Hill, A., McLean, C. (2011). Overview and recent advances in neuropathology. Part 2: Neurodegeneration. Journal of Pathology, 43(2), 93-102. [More Information]
  • Pamphlett, R. (2011). The "somatic-spread" hypothesis for sporadic neurodegenerative diseases. Medical Hypotheses, 77(4), 544-547. [More Information]
  • 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. [More Information]
  • 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 and Frontotemporal Degeneration, 11(40210), 76-82. [More Information]
  • Pamphlett, R. (2010). Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology, 74(23), 1926; author reply 1926-7. [More Information]
  • Morahan, J., Morahan, J., Yu, B., Yu, B., Trent, R., Trent, R., Pamphlett, R., Pamphlett, R. (2009). A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 10(5-6), 418-429. [More Information]
  • Wills, A., Cronin, S., Slowik, A., Kasperaviciute, D., Van Es, M., Morahan, J., Valdmanis, P., Meininger, V., Pamphlett, R., Melki, J., et al (2009). A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology, 73(1), 16-24. [More Information]
  • 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. [More Information]
  • 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, 16(8), 1091-2. [More Information]
  • Ruff, M., Pamphlett, R. (2008). A simple method for comparing microarray genotype data between brain and other tissues. Journal of Neuroscience Methods, 173, 315-317. [More Information]
  • Luquin, N., Yu, B., Trent, R., Morahan, J., Pamphlett, R. (2008). An analysis of the entire SOD1 gene in sporadic ALS. Neuromuscular Disorders, 18(7), 545-552. [More Information]
  • Pamphlett, R., Kum Jew, S. (2008). TDP-43 inclusions do not protect motor neurons from sporadic ALS. Acta Neuropathologica, 116(2), 221-2. [More Information]
  • Pamphlett, R., McLean, C., Kum Jew, S., Adams, L. (2008). TDP-43 neuropathology is similar in sporadic amyotrophic lateral sclerosis with or without TDP-43 mutations. Neuropathology and Applied Neurobiology, 35, 222-5. [More Information]
  • Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2007). A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. Journal of the Neurological Sciences, 267, 125-128. [More Information]
  • Oates, N., Pamphlett, R. (2007). An epigenetic analysis of SOD1 and VEGF in ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 8(2), 83-86. [More Information]
  • Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2007). Are enteroviral receptors different in sporadic motor neuron disease? Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 8(1), 26-30. [More Information]
  • Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2007). Genetic susceptibility to environmental toxicants in ALS. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 144B (7), 885-890. [More Information]
  • Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2007). Low yield in screening patients with sporadic motor neuron disease for Kennedy disease. Internal Medicine Journal, 37(11), 772-774. [More Information]
  • Vucic, S., Pamphlett, R., Wills, E., Yiannikas, C. (2007). Polyglucosan body disease myopathy: An unusual presentation. Muscle and Nerve, 35(4), 536-539. [More Information]
  • Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2006). A gene-environment study of the paraoxonase 1 gene and pesticides in amyotrophic lateral sclerosis. NeuroToxicology, 28(3), 532-540. [More Information]
  • Morahan, J., Pamphlett, R. (2006). Amyotrophic Lateral Sclerosis and Exposure to Environmental Toxins: An Australian Case-Control Study. Neuroepidemiology, 27(3), 130-135. [More Information]
  • Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2006). Are metallothionein genes silenced in ALS? Toxicology Letters, 168(1), 83-87. [More Information]
  • Zoing, M., Burke, D., Pamphlett, R., Kiernan, M. (2006). Riluzole therapy for motor neurone disease: an early Australian experience (1996-2002). Journal of Clinical Neuroscience, 13(1), 78-83. [More Information]
  • Kersaitis, C., Halliday, G., Xuereb, J., Pamphlett, R., Bak, T., Hodges, J., Kril, J. (2006). Ubiquitin-positive inclusions and progression of pathology in frontotemporal dementia and motor neurone disease identifies a group with mainly early pathology. Neuropathology and Applied Neurobiology, 32(1), 83-91. [More Information]
  • Shingde, M., Ell, J., Pamphlett, R. (2005). A cast-iron guarantee of ataxia and deafness. Journal of Clinical Neuroscience, 12(7), 807-808. [More Information]
  • Yu, B., Sawyer, N., Caramins, M., Yuan, Z., Saunderson, R., Pamphlett, R., Richmond, D., Jeremy, R., Trent, R. (2005). Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. Journal of Clinical Pathology, 58(5), 479-485. [More Information]
  • Pamphlett, R., Heath, P., Holden, H., Ince, P., Shaw, P. (2005). Detection of mutations in whole genome-amplified DNA from laser-microdissected neurons. Journal of Neuroscience Methods, 147(1), 65-67. [More Information]
  • Pamphlett, R., Eide, R., Dansche, G. (2005). Does selenium deficiency unmask mercury toxicity in motor neurons? Neurotoxicology and Teratology, 27(2), 241-244. [More Information]
  • Pamphlett, R., Kum Jew, S., King, N. (2005). Flaviviruses in motor neuron disease. Muscle and Nerve, 32(1), 108-109. [More Information]
  • Pamphlett, R. (2005). It takes only 100 true-false items to test medical students: true or false? Medical Teacher, 27(5), 468-472. [More Information]
  • Shingde, M., Hughes, J., Boadle, R., Wills, E., Pamphlett, R. (2005). Macrophagic myofasciitis associated with vaccine-derived aluminium. Medical Journal of Australia, 183(3), 145-146. [More Information]
  • Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2005). Screening the metallothionein III gene in sporadic amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 6(2), 115-117. [More Information]
  • Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2004). A Polymorphism In The Poliovirus Receptor Gene Differs In Motor Neuron Disease. NeuroReport, 15(2), 383-386.
  • Krishnan, A., Pamphlett, R., Burke, D., Wills, E., Kiernan, M. (2004). Cytoplasmic Body Myopathy Masquerading As Motor Neuron Disease. Muscle and Nerve, 30(5), 667-672. [More Information]
  • Pamphlett, R. (2004). Somatic Mutation: A Cause Of Sporadic Neurodegenerative Diseases? Medical Hypotheses, 62(5), 679-682.
  • Pamphlett, R., Sjarif, A. (2003). Is quantitation necessary for assessment of sural nerve biopsies? Muscle and Nerve, 27(5), 562-569. [More Information]
  • Pamphlett, R., Todd, E., Vink, R., McQuilty, R., Cheema, S. (2003). Magnesium supplementation does not delay disease onset or increase survival in a mouse model of familial ALS. Journal of the Neurological Sciences, 216(1), 95-98.
  • Pamphlett, R., Kum Jew, S. (2003). Zinc in the spinal cord of a mutant SODI mouse model of ALS. NeuroReport, 14(4), 547-549.
  • Halliday, G., Ng, T., Rodriguez, M., Harding, A., Blumbergs, P., Evans, W., Fabian, V., Fryer, J., Gonzales, M., Harper, C., Pamphlett, R., Kril, J., et al (2002). Consensus neuropathological diagnosis of common dementia syndromes: testing and standardising the use of multiple diagnostic criteria. Acta Neuropathologica, 104(1), 72-78. [More Information]
  • Pamphlett, R., McQuilty,, R., Zarkos, K. (2001). Blood levels of Toxic and Essential Metals in Motor Neuron Disease. NeuroToxicology, 22, 401-410.
  • Pamphlett, R., Kum Jew, S. (2001). Mercury vapor uptake into the nervous system of developing mice. Neurotoxicology and Teratology, 23, 191-196.
  • Pamphlett, R., Pollard, J., Ouvrier, R., Wilmshurst, J., Bye,, A., Rittey, C., Adams, C., Hahn, A., Ramsay, D. (2001). Severe infantile axonal neuropathy with respiratory failure. Muscle and Nerve, 24, 760-768.

Conferences

  • Kril, J., Pamphlett, R., Hodges, J., Halliday, G., Bak, T., Xuereb, J., Kersaitis, C. (2006). Ubiquitin positive inclusions and early pathology in frontotemporal lobar degeneration and motor neuron disease. XVIth Congress of the International Society of Neuropathology, San Francisco, California: Wiley-Blackwell Publishing, Inc.

2014

  • Pamphlett, R. (2014). Uptake of environmental toxicants by the locus ceruleus: A potential trigger for neurodegenerative, demyelinating and psychiatric disorders. Medical Hypotheses, 82(1), 97-104. [More Information]

2013

  • 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), 1-6. [More Information]
  • Pamphlett, R., Rikard-Bell, A. (2013). Different Occupations Associated with Amyotrophic Lateral Sclerosis: Is Diesel Exhaust the Link? PLoS One, 8(11), 1-10. [More Information]
  • Pamphlett, R., Kum Jew, S. (2013). Heavy metals in locus ceruleus and motor neurons in motor neuron disease. Acta Neuropathologica Communications, 1(1), 1-15. [More Information]
  • 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. [More Information]
  • 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-sträussler-scheinker disease associated with a novel PRNP mutation (V176G). JAMA Neurology, 70(9), 1180-1185. [More Information]
  • 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), 1-11. [More Information]

2012

  • 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 and Frontotemporal Degeneration, 13(5), 465-470. [More Information]
  • 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), 82-85. [More Information]
  • 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. [More Information]
  • Majounie, E., Renton, A., Mok, K., Dopper, E., Waite, A., Rollinson, S., Chio, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., Pamphlett, R., et al (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. [More Information]
  • Pamphlett, R., Fang, F. (2012). Season and weather patterns at time of birth in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 13(5), 459-464. [More Information]
  • Pamphlett, R., Cochran, E. (2012). Smoking is not a risk factor for sporadic amyotrophic lateral sclerosis in an Australian population. Neuroepidemiology, 38(2), 106-113. [More Information]
  • 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. [More Information]

2011

  • Pamphlett, R., Morahan, J. (2011). Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis. Journal of Clinical Neuroscience, 18(9), 1231-1234. [More Information]
  • Pamphlett, R., Kum 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. [More Information]
  • 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 and Nerve, 44(4), 492-498. [More Information]
  • Masters, C., Kril, J., Halliday, G., Pamphlett, R., Collins, S., Hill, A., McLean, C. (2011). Overview and recent advances in neuropathology. Part 2: Neurodegeneration. Journal of Pathology, 43(2), 93-102. [More Information]
  • Pamphlett, R. (2011). The "somatic-spread" hypothesis for sporadic neurodegenerative diseases. Medical Hypotheses, 77(4), 544-547. [More Information]
  • 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. [More Information]

2010

  • 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 and Frontotemporal Degeneration, 11(40210), 76-82. [More Information]
  • Pamphlett, R. (2010). Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology, 74(23), 1926; author reply 1926-7. [More Information]

2009

  • Morahan, J., Morahan, J., Yu, B., Yu, B., Trent, R., Trent, R., Pamphlett, R., Pamphlett, R. (2009). A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 10(5-6), 418-429. [More Information]
  • Wills, A., Cronin, S., Slowik, A., Kasperaviciute, D., Van Es, M., Morahan, J., Valdmanis, P., Meininger, V., Pamphlett, R., Melki, J., et al (2009). A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology, 73(1), 16-24. [More Information]
  • 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. [More Information]
  • 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, 16(8), 1091-2. [More Information]

2008

  • Ruff, M., Pamphlett, R. (2008). A simple method for comparing microarray genotype data between brain and other tissues. Journal of Neuroscience Methods, 173, 315-317. [More Information]
  • Luquin, N., Yu, B., Trent, R., Morahan, J., Pamphlett, R. (2008). An analysis of the entire SOD1 gene in sporadic ALS. Neuromuscular Disorders, 18(7), 545-552. [More Information]
  • Pamphlett, R., Kum Jew, S. (2008). TDP-43 inclusions do not protect motor neurons from sporadic ALS. Acta Neuropathologica, 116(2), 221-2. [More Information]
  • Pamphlett, R., McLean, C., Kum Jew, S., Adams, L. (2008). TDP-43 neuropathology is similar in sporadic amyotrophic lateral sclerosis with or without TDP-43 mutations. Neuropathology and Applied Neurobiology, 35, 222-5. [More Information]

2007

  • Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2007). A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. Journal of the Neurological Sciences, 267, 125-128. [More Information]
  • Oates, N., Pamphlett, R. (2007). An epigenetic analysis of SOD1 and VEGF in ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 8(2), 83-86. [More Information]
  • Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2007). Are enteroviral receptors different in sporadic motor neuron disease? Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 8(1), 26-30. [More Information]
  • Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2007). Genetic susceptibility to environmental toxicants in ALS. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 144B (7), 885-890. [More Information]
  • Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2007). Low yield in screening patients with sporadic motor neuron disease for Kennedy disease. Internal Medicine Journal, 37(11), 772-774. [More Information]
  • Vucic, S., Pamphlett, R., Wills, E., Yiannikas, C. (2007). Polyglucosan body disease myopathy: An unusual presentation. Muscle and Nerve, 35(4), 536-539. [More Information]

2006

  • Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2006). A gene-environment study of the paraoxonase 1 gene and pesticides in amyotrophic lateral sclerosis. NeuroToxicology, 28(3), 532-540. [More Information]
  • Morahan, J., Pamphlett, R. (2006). Amyotrophic Lateral Sclerosis and Exposure to Environmental Toxins: An Australian Case-Control Study. Neuroepidemiology, 27(3), 130-135. [More Information]
  • Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2006). Are metallothionein genes silenced in ALS? Toxicology Letters, 168(1), 83-87. [More Information]
  • Zoing, M., Burke, D., Pamphlett, R., Kiernan, M. (2006). Riluzole therapy for motor neurone disease: an early Australian experience (1996-2002). Journal of Clinical Neuroscience, 13(1), 78-83. [More Information]
  • Kril, J., Pamphlett, R., Hodges, J., Halliday, G., Bak, T., Xuereb, J., Kersaitis, C. (2006). Ubiquitin positive inclusions and early pathology in frontotemporal lobar degeneration and motor neuron disease. XVIth Congress of the International Society of Neuropathology, San Francisco, California: Wiley-Blackwell Publishing, Inc.
  • Kersaitis, C., Halliday, G., Xuereb, J., Pamphlett, R., Bak, T., Hodges, J., Kril, J. (2006). Ubiquitin-positive inclusions and progression of pathology in frontotemporal dementia and motor neurone disease identifies a group with mainly early pathology. Neuropathology and Applied Neurobiology, 32(1), 83-91. [More Information]

2005

  • Shingde, M., Ell, J., Pamphlett, R. (2005). A cast-iron guarantee of ataxia and deafness. Journal of Clinical Neuroscience, 12(7), 807-808. [More Information]
  • Yu, B., Sawyer, N., Caramins, M., Yuan, Z., Saunderson, R., Pamphlett, R., Richmond, D., Jeremy, R., Trent, R. (2005). Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. Journal of Clinical Pathology, 58(5), 479-485. [More Information]
  • Pamphlett, R., Heath, P., Holden, H., Ince, P., Shaw, P. (2005). Detection of mutations in whole genome-amplified DNA from laser-microdissected neurons. Journal of Neuroscience Methods, 147(1), 65-67. [More Information]
  • Pamphlett, R., Eide, R., Dansche, G. (2005). Does selenium deficiency unmask mercury toxicity in motor neurons? Neurotoxicology and Teratology, 27(2), 241-244. [More Information]
  • Pamphlett, R., Kum Jew, S., King, N. (2005). Flaviviruses in motor neuron disease. Muscle and Nerve, 32(1), 108-109. [More Information]
  • Pamphlett, R. (2005). It takes only 100 true-false items to test medical students: true or false? Medical Teacher, 27(5), 468-472. [More Information]
  • Shingde, M., Hughes, J., Boadle, R., Wills, E., Pamphlett, R. (2005). Macrophagic myofasciitis associated with vaccine-derived aluminium. Medical Journal of Australia, 183(3), 145-146. [More Information]
  • Morahan, J., Yu, B., Trent, R., Pamphlett, R. (2005). Screening the metallothionein III gene in sporadic amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 6(2), 115-117. [More Information]

2004

  • Saunderson, R., Yu, B., Trent, R., Pamphlett, R. (2004). A Polymorphism In The Poliovirus Receptor Gene Differs In Motor Neuron Disease. NeuroReport, 15(2), 383-386.
  • Krishnan, A., Pamphlett, R., Burke, D., Wills, E., Kiernan, M. (2004). Cytoplasmic Body Myopathy Masquerading As Motor Neuron Disease. Muscle and Nerve, 30(5), 667-672. [More Information]
  • Pamphlett, R. (2004). Somatic Mutation: A Cause Of Sporadic Neurodegenerative Diseases? Medical Hypotheses, 62(5), 679-682.

2003

  • Pamphlett, R., Sjarif, A. (2003). Is quantitation necessary for assessment of sural nerve biopsies? Muscle and Nerve, 27(5), 562-569. [More Information]
  • Pamphlett, R., Todd, E., Vink, R., McQuilty, R., Cheema, S. (2003). Magnesium supplementation does not delay disease onset or increase survival in a mouse model of familial ALS. Journal of the Neurological Sciences, 216(1), 95-98.
  • Pamphlett, R., Kum Jew, S. (2003). Zinc in the spinal cord of a mutant SODI mouse model of ALS. NeuroReport, 14(4), 547-549.

2002

  • Halliday, G., Ng, T., Rodriguez, M., Harding, A., Blumbergs, P., Evans, W., Fabian, V., Fryer, J., Gonzales, M., Harper, C., Pamphlett, R., Kril, J., et al (2002). Consensus neuropathological diagnosis of common dementia syndromes: testing and standardising the use of multiple diagnostic criteria. Acta Neuropathologica, 104(1), 72-78. [More Information]

2001

  • Pamphlett, R., McQuilty,, R., Zarkos, K. (2001). Blood levels of Toxic and Essential Metals in Motor Neuron Disease. NeuroToxicology, 22, 401-410.
  • Pamphlett, R., Kum Jew, S. (2001). Mercury vapor uptake into the nervous system of developing mice. Neurotoxicology and Teratology, 23, 191-196.
  • Pamphlett, R., Pollard, J., Ouvrier, R., Wilmshurst, J., Bye,, A., Rittey, C., Adams, C., Hahn, A., Ramsay, D. (2001). Severe infantile axonal neuropathy with respiratory failure. Muscle and Nerve, 24, 760-768.

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