Associate Professor Roger Pamphlett

E:  roger.pamphlett@bosch.org.au T:  +61 2 9351 3318 F:  +61 2 9351 3429 D06 - Blackburn Building The University of Sydney NSW 2006 Australia

• Research interests
• Publications

Research interests

Publications

2010

Luquin, N, Yu, B, Trent, R, Pamphlett, R. DHPLC can be used to detect low-level mutations in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. 2010; 11:76-82

2009

Luquin, N, Yu, B, Saunderson, R, Trent, R, Pamphlett, R. Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis. Neuromuscular Disorders. 2009; 19:696-700

Granot, R, Lawrence, R, Barnett, M, Masters, L, Rodriguez, M, Theocharous, C, Pamphlett, R, Hersch, M. 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. 2009; 16:1091-2

Pamphlett, R, Luquin, N, McLean, C, Jew, S, Adams, L. TDP-43 neuropathology is similar in sporadic amyotrophic lateral sclerosis with or without TDP-43 mutations. Neuropathology and applied neurobiology. 2009; 35:222-5

Morahan, J, Yu, B, Trent, R, Pamphlett, R. A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis. 2009; 10:418-429

2008

Ruff, M, Pamphlett, R. A simple method for comparing microarray genotype data between brain and other tissues. Journal of neuroscience methods. 2008; 173:315-7

Pamphlett, R, Kum Jew, S. TDP-43 inclusions do not protect motor neurons from sporadic ALS. Acta neuropathologica. 2008; 116:221-2

Luquin, N, Yu, B, Trent, R, Morahan, J, Pamphlett, R. An analysis of the entire SOD1 gene in sporadic ALS. Neuromuscular disorders : NMD. 2008; 18:545-52

Saunderson, R, Yu, B, Trent, R, Pamphlett, R. A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. Journal of the neurological sciences. 2008; 267:125-8

2007

Saunderson, R, Yu, B, Trent, R, Pamphlett, R. Low yield in screening patients with sporadic motor neuron disease for Kennedy disease. Internal medicine journal. 2007; 37:772-774

Morahan, J, Yu, B, Trent, R, Pamphlett, R. Genetic susceptibility to environmental toxicants in ALS. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2007; 144B:885-90

Morahan, J, Yu, B, Trent, R, Pamphlett, R. A gene-environment study of the paraoxonase 1 gene and pesticides in amyotrophic lateral sclerosis. Neurotoxicology. 2007; 28:532-40

Oates, N, Pamphlett, R. An epigenetic analysis of SOD1 and VEGF in ALS. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. 2007; 8:83-86

Vucic, S, Pamphlett, R, Wills, E, Yiannikas, C. Polyglucosan body disease myopathy: an unusual presentation. Muscle & nerve. 2007; 35:536-539

Saunderson, R, Yu, B, Trent, R, Pamphlett, R. Are enteroviral receptors different in sporadic motor neuron disease?. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. 2007; 8:26-30

Morahan, J, Yu, B, Trent, R, Pamphlett, R. Are metallothionein genes silenced in ALS?. Toxicology letters. 2007; 168:83-7

2006

Kersaitis, C, Halliday, G, Xuereb, J, Pamphlett, R, Bak, T, Hodges, J, Kril, J. Ubiquitin positive inclusions and early pathology in frontotemporal lobar degeneration and motor neuron disease. Brain Pathology. 2006; 16:S43-S43

Kersaitis, C, Halliday, G, Xuereb, J, Pamphlett, R, Bak, T, Hodges, J, Kril, J. 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. 2006; 32:83-91

Morahan, J, Pamphlett, R. Amyotrophic Lateral Sclerosis and Exposure to Environmental Toxins: An Australian Case-Control Study. Neuroepidemiology. 2006; 27:130-5

Zoing, M, Burke, D, Pamphlett, R, Kiernan, M. Riluzole therapy for motor neurone disease: an early Australian experience (1996-2002). Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 2006; 13:78-83

2005

Shingde, M, Ell, J, Pamphlett, R. A cast-iron guarantee of ataxia and deafness. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 2005; 12:807-8

Pamphlett, R, Heath, P, Holden, H, Ince, P, Shaw, P. Detection of mutations in whole genome-amplified DNA from laser-microdissected neurons. Journal of neuroscience methods. 2005; 147:65-7

Pamphlett, R. It takes only 100 true-false items to test medical students: true or false?. Medical teacher. 2005; 27:468-72

Shingde, M, Hughes, J, Boadle, R, Wills, E, Pamphlett, R. Macrophagic myofasciitis associated with vaccine-derived aluminium. Medical Journal of Australia. 2005; 183:145-6

Pamphlett, R, Kum-Jew, S, King, N. Flaviviruses in motor neuron disease. Muscle & nerve. 2005; 32:108-9

Morahan, J, Yu, B, Trent, R, Pamphlett, R. Screening the metallothionein III gene in sporadic amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis and other motor neuron disorders: official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases. 2005; 6:115-7

Yu, B, Sawyer, N, Caramins, M, Yuan, Z, Saunderson, R, Pamphlett, R, Richmond, D, Jeremy, R, Trent, R. Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. Journal of clinical pathology. 2005; 58:479-85

Pamphlett, R, Eide, R, Danscher, G. Does selenium deficiency unmask mercury toxicity in motor neurons?. Neurotoxicology and teratology. 2005; 27:241-4

2004

Krishnan, A, Pamphlett, R, Burke, D, Wills, E, Kiernan, M. Cytoplasmic body myopathy masquerading as motor neuron disease. Muscle & nerve. 2004; 30:667-72

Saunderson, R, Yu, B, Trent, R, Pamphlett, R. A polymorphism in the poliovirus receptor gene differs in motor neuron disease. Neuroreport. 2004; 15:383-6

Pamphlett, R. Somatic mutation: a cause of sporadic neurodegenerative diseases?. Medical hypotheses. 2004; 62:679-82

2003

Pamphlett, R, Todd, E, Vink, R, McQuilty, R, Cheema, S. Magnesium supplementation does not delay disease onset or increase survival in a mouse model of familial ALS. Journal of the neurological sciences. 2003; 216:95-98

Pamphlett, R, Sjarif, A. Is quantitation necessary for assessment of sural nerve biopsies?. Muscle & nerve. 2003; 27:562-569

Pamphlett, R, Kum-Jew, S. Zinc in the spinal cord of a mutant SOD1 mouse model of ALS. Neuroreport. 2003; 14:547-549

2002

Halliday, G, Ng, T, Rodriguez, M, Harding, A, Blumbergs, P, Evans, W, Fabian, V, Fryer, J, Gonzales, M, Harper, C, Kalnins, R, Masters, C, McLean, C, Milder, D, Pamphlett, R, Scott, G, Tannenberg, A, Kril, J. Consensus neuropathological diagnosis of common dementia syndromes: testing and standardising the use of multiple diagnostic criteria. Acta Neuropathologica. 2002; 104:72-78

2001

Pamphlett, R, McQuilty, R, Zarkos, K. Blood levels of toxic and essential metals in motor neuron disease. Neurotoxicology. 2001; 22:401-10

Pamphlett, R, Kum Jew, S. Mercury vapor uptake into the nervous system of developing mice. Neurotoxicology and Teratology. 2001; Issue 4:1-4

Wilmshurst, J, Bye, A, Rittey, C, Adams, C, Hahn, A, Ramsey, D, Pamphlett, R, Pollard, J, Ouvrier, R. Severe infantile axonal neuropathy with respiratory failure. Muscle & Nerve. 2001; 108:968-975

2000

Danscher, G, Stoltenberg, M, Kemp, K, Pamphlett, R. Bismuth autometallography: protocol, specificity, and differentiation. Journal of Histochemistry and Cytochemistry. 2000; 48:1503-1510

Pamphlett, R. Detection and cellular localization of enterovirus RNA sequences in spinal cord of patients with ALS. Neurology. 2000; 55:1420-1421

Stoltenberg, B, Danscher, G, Pamphlett, R, Christensen, M, Rungby, J. Histochemical tracing of bismuth in testis from rats exposed intraperitoneally to bismuth submitrate. Reproductive Toxicology. 2000; 14:65-71

Poljak, A, Pamphlett, R, Gurney, M, Duncan, M. Measurement of o- and m-tyrosine as markers of oxidative damage in motor neuron disease. Redox Report. 2000; 5:137-140

Pamphlett, R, Danscher, G, Rungby, J, Stoltenberg, M. Tissue uptake of Bismuth from Shotgun Pellets. Environmental Research. 2000; 82:258-262

Pamphlett, R, Stoltenberg, M, Rungby, J, Danscher, G. Uptake of bismuth in motor neurons of mice after single oral doses of bismuth compounds. Neurotoxicology and Teratology. 2000; 22:559-563