Publications for Roger Pamphlett
Publications for Roger Pamphlett
3572">[More Information]</a>
2016
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. <a
href="http://dx.doi.org/10.1016/j.mehy.2013.11.
016">[More Information]</a>
Pamphlett, R., Kum Jew, S. (2016). Locus
ceruleus neurons in people with autism contain
no histochemically-detectable mercury.
Biometals, 29(1), 171-175. <a
href="http://dx.doi.org/10.1007/s10534-015-989
8-9">[More Information]</a>
Rigney, L., El-Haddad, C., Cappelen-Smith, C.,
Pamphlett, R., Gotis-Graham, I., Cordato, D.
(2016). Rhabdomyolysis as a late complication
of bariatric surgery. Journal of the Neurological
Sciences, 364, 102-104. <a
href="http://dx.doi.org/10.1016/j.jns.2016.03.027
">[More Information]</a>
2015
Parkin Kullmann, J., Hayes, S., Wang, M.,
Pamphlett, R. (2015). Designing an
Internationally Accessible Web-Based
Questionnaire to Discover Risk Factors for
Amyotrophic Lateral Sclerosis: A Case-Control
Study. JMIR Research Protocols, 4(3), 1-12. <a
href="http://dx.doi.org/10.2196/resprot.4840">[
More Information]</a>
Pamphlett, R., Kum Jew, S. (2015). Different
Populations of Human Locus Ceruleus Neurons
Contain Heavy Metals or Hyperphosphorylated
Tau: Implications for Amyloid-β and Tau
Pathology in Alzheimer's Disease. Journal of
Alzheimer's Disease, 45, 437-447. <a
href="http://dx.doi.org/10.3233/JAD-142445">[
More Information]</a>
Steinberg, K., Yu, B., Koboldt, D., Mardis, E.,
Pamphlett, R. (2015). Exome sequencing of
case-unaffected-parents trios reveals
recessive and de novo genetic variants in
sporadic ALS. Scientific Reports, 5, 1-8. <a
href="http://dx.doi.org/10.1038/srep09124">[Mo
re Information]</a>
Steinberg, K., Nicholas, T., Koboldt, D., Yu, B.,
Mardis, E., Pamphlett, R. (2015). Whole genome
analyses reveal no pathogenetic single nucleotide
or structural differences between monozygotic
twins discordant for amyotrophic lateral
sclerosis. Amyotrophic Lateral Sclerosis and
Frontotemporal Degeneration, 16(5-6), 385-392.
<a
href="http://dx.doi.org/10.3109/21678421.2015.
1040029">[More Information]</a>
2014
Stoyanov, A., Pamphlett, R. (2014). Is the Risk
of Motor Neuron Disease Increased or Decreased
after Cancer? An Australian Case-Control Study.
PloS One, 9(7), e103572. <a
href="http://dx.doi.org/10.1371/journal.pone.010
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. <a
href="http://dx.doi.org/10.1371/journal.pone.007
0007">[More Information]</a>
Pamphlett, R., Rikard-Bell, A. (2013). Different
Occupations Associated with Amyotrophic
Lateral Sclerosis: Is Diesel Exhaust the Link?
PloS One, 8(11), 1-10. <a
href="http://dx.doi.org/10.1371/journal.pone.008
0993">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1186/2051-5960-1-81"
>[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.neurobiolaging.
2013.04.003">[More Information]</a>
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.
<a
href="http://dx.doi.org/10.1001/jamaneurol.2013
.165">[More Information]</a>
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.
<a
href="http://dx.doi.org/10.1186/2051-5960-1-13"
>[More Information]</a>
2012
Solski, J., Yang, S., Nicholson, G., Luquin, N.,
Williams, K., Fernando, R., Pamphlett, R., Blair,
Publications for Roger Pamphlett
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. <a
href="http://dx.doi.org/10.3109/17482968.2012.
662690">[More Information]</a>
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.
<a
href="http://dx.doi.org/10.1016/j.parkreldis.2011
.08.024">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1111/j.1468-1331.201
2.03769.x">[More Information]</a>
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. The Lancet
Neurology, 11(4), 323-330. <a
href="http://dx.doi.org/10.1016/S1474-4422(12)
70043-1">[More Information]</a>
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. <a
href="http://dx.doi.org/10.3109/17482968.2012.
700938">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1159/000336013">[M
ore Information]</a>
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. <a
href="http://dx.doi.org/10.1097/WNR.0b013e32
83544718">[More Information]</a>
href="http://dx.doi.org/10.1016/j.jocn.2010.12.0
49">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.toxlet.2010.12.
005">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1002/mus.22095">[M
ore Information]</a>
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. <a
href="http://dx.doi.org/10.1097/PAT.0b013e328
3426eee">[More Information]</a>
Pamphlett, R. (2011). The "somatic-spread"
hypothesis for sporadic neurodegenerative
diseases. Medical Hypotheses, 77(4), 544-547.
<a
href="http://dx.doi.org/10.1016/j.mehy.2011.06.
027">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.jneumeth.2011.
02.028">[More Information]</a>
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. <a
href="http://dx.doi.org/10.3109/1748296080257
2699">[More Information]</a>
Pamphlett, R. (2010). Study of 962 patients
indicates progressive muscular atrophy is a form
of ALS. Neurology, 74(23), 1926; author reply
1926-7. <a
href="http://dx.doi.org/10.1212/WNL.0b013e31
81e03b59">[More Information]</a>
2011
2009
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. <a
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.
Publications for Roger Pamphlett
Amyotrophic Lateral Sclerosis and
Frontotemporal Degeneration, 10(5-6), 418-429.
<a
href="http://dx.doi.org/10.3109/1748296080263
5397">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1212/WNL.0b013e31
81a18674">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.nmd.2009.07.0
05">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.jocn.2008.07.0
91">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.jneumeth.2008.
06.023">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.nmd.2008.04.0
13">[More Information]</a>
Pamphlett, R., Kum Jew, S. (2008). TDP-43
inclusions do not protect motor neurons from
sporadic ALS. Acta Neuropathologica, 116(2),
221-2. <a
href="http://dx.doi.org/10.1007/s00401-008-039
2-0">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1111/j.1365-2990.200
8.00982.x">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.jns.2007.10.006
">[More Information]</a>
Oates, N., Pamphlett, R. (2007). An epigenetic
analysis of SOD1 and VEGF in ALS.
Amyotrophic Lateral Sclerosis and
Frontotemporal Degeneration, 8(2), 83-86. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17453634">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17364432">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1002/ajmg.b.30543">[
More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17908088">[More Information]</a>
Vucic, S., Pamphlett, R., Wills, E., Yiannikas, C.
(2007). Polyglucosan body disease myopathy:
An unusual presentation. Muscle and Nerve,
35(4), 536-539. <a
href="http://dx.doi.org/10.1002/mus.20720">[M
ore Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17204329">[More Information]</a>
Morahan, J., Pamphlett, R. (2006). Amyotrophic
Lateral Sclerosis and Exposure to Environmental
Toxins: An Australian Case-Control Study.
Neuroepidemiology, 27(3), 130-135. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
Publications for Roger Pamphlett
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16946624">[More Information]</a>
Morahan, J., Yu, B., Trent, R., Pamphlett, R.
(2006). Are metallothionein genes silenced in
ALS? Toxicology Letters, 168(1), 83-87. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17156946">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.jocn.2004.04.0
11">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16409556">[More Information]</a>
2005
Shingde, M., Ell, J., Pamphlett, R. (2005). A
cast-iron guarantee of ataxia and deafness.
Journal of Clinical Neuroscience, 12(7),
807-808. <a
href="http://dx.doi.org/10.1016/j.jocn.2004.09.0
11">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15858117">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1016/j.jneumeth.2005.
03.005">[More Information]</a>
Pamphlett, R., Eide, R., Dansche, G. (2005).
Does selenium deficiency unmask mercury
toxicity in motor neurons? Neurotoxicology and
Teratology, 27(2), 241-244. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15734275">[More Information]</a>
Pamphlett, R., Kum Jew, S., King, N. (2005).
Flaviviruses in motor neuron disease. Muscle
and Nerve, 32(1), 108-109. <a
href="http://dx.doi.org/10.1002/mus.20320">[M
ore Information]</a>
Pamphlett, R. (2005). It takes only 100 true-false
items to test medical students: true or false?
Medical Teacher, 27(5), 468-472. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16147803">[More Information]</a>
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.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16053418">[More Information]</a>
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. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16036436">[More Information]</a>
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. <a
href="http://dx.doi.org/10.1002/mus.20115">[M
ore Information]</a>
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. <a
href="http://dx.doi.org/10.1002/mus.10363">[M
ore Information]</a>
Publications for Roger Pamphlett
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. <a
href="http://dx.doi.org/10.1007/s00401-002-052
9-5">[More Information]</a>
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.