Roger Pamphlett

Summary

Affiliation: University of Sydney
Country: Australia

Publications

  1. ncbi request reprint Somatic mutation: a cause of sporadic neurodegenerative diseases?
    Roger Pamphlett
    Department of Pathology, The University of Sydney, Sydney, NSW 2006, Australia
    Med Hypotheses 62:679-82. 2004
  2. doi request reprint Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis
    Shu Yang
    Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia
    Neurobiol Aging 34:2235.e7-10. 2013
  3. doi request reprint Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis
    Natasha Luquin
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology, The University of Sydney, Sydney, Australia
    Neuromuscul Disord 19:696-700. 2009
  4. doi request reprint Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology D06, The University of Sydney, Sydney, New South Wales, Australia
    Neuroreport 23:556-9. 2012
  5. doi request reprint A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis
    Julia M Morahan
    Department of Pathology, The Stacey Motor Neuron Disease Laboratory, The University of Sydney, Sydney, New South Wales 2006, Australia
    Amyotroph Lateral Scler 10:418-29. 2009
  6. doi request reprint Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Neuropathology Division, University of Sydney, Sydney, New South Wales 2006, Australia
    Muscle Nerve 44:492-8. 2011
  7. doi request reprint DHPLC can be used to detect low-level mutations in amyotrophic lateral sclerosis
    Natasha Luquin
    Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia
    Amyotroph Lateral Scler 11:76-82. 2010
  8. doi request reprint Using case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Sydney Medical School, The University of Sydney, Australia
    J Neurosci Methods 197:297-301. 2011
  9. doi request reprint Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology D06, University of Sydney, Sydney, New South Wales 2006, Australia
    J Clin Neurosci 18:1231-4. 2011
  10. doi request reprint A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis
    Jennifer A Solski
    Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia
    Amyotroph Lateral Scler 13:465-70. 2012

Collaborators

  • Bing Yu
  • Ian P Blair
  • Qiao Xin Li
  • Fang Fang
  • Ronald Ja Trent
  • Natasha Luquin
  • Julia M Morahan
  • Shu Yang
  • Rebecca B Saunderson
  • Marion Simpson
  • Kelly L Williams
  • Garth A Nicholson
  • Jennifer A Solski
  • Mark E Ruff
  • Nathan Oates
  • Rebecca Saunderson
  • Steven J Collins
  • Vanessa Johanssen
  • Catriona McLean
  • Sadaf T Warraich
  • Jennifer A Fifita
  • Alison Boyd
  • Colin L Masters
  • Genevieve Klug
  • Victoria Lewis
  • Ruvini Fernando

Detail Information

Publications24

  1. ncbi request reprint Somatic mutation: a cause of sporadic neurodegenerative diseases?
    Roger Pamphlett
    Department of Pathology, The University of Sydney, Sydney, NSW 2006, Australia
    Med Hypotheses 62:679-82. 2004
    ..The diseases are not passed to offspring since the mutations are not present in the germ-line. To find somatic mutations, the affected central nervous system cells need to be separated out and submitted to DNA analysis...
  2. doi request reprint Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis
    Shu Yang
    Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia
    Neurobiol Aging 34:2235.e7-10. 2013
    ..Our data suggest that PFN1 mutations and pathology are not common in an Australian ALS cohort of predominantly European ancestry...
  3. doi request reprint Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis
    Natasha Luquin
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology, The University of Sydney, Sydney, Australia
    Neuromuscul Disord 19:696-700. 2009
    ..In summary, variants in the promoter and other non-coding regions of TARDBP may disturb the regulation of this gene in some patients with SALS...
  4. doi request reprint Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology D06, The University of Sydney, Sydney, New South Wales, Australia
    Neuroreport 23:556-9. 2012
    ..Our results suggest that a simple monogenic mechanism is not likely to be the cause of C9orf72 repeat-related SALS...
  5. doi request reprint A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis
    Julia M Morahan
    Department of Pathology, The Stacey Motor Neuron Disease Laboratory, The University of Sydney, Sydney, New South Wales 2006, Australia
    Amyotroph Lateral Scler 10:418-29. 2009
    ..The possibility of epigenetic therapy for SALS should encourage confirmation of these initial results in a future larger whole-genome DNA methylation study...
  6. doi request reprint Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Neuropathology Division, University of Sydney, Sydney, New South Wales 2006, Australia
    Muscle Nerve 44:492-8. 2011
    ..This may be because some genetic variants occur only in brain tissue. We therefore looked for copy number variants (CNVs) in both blood and brain in patients with sporadic amyotrophic lateral sclerosis (SALS)...
  7. doi request reprint DHPLC can be used to detect low-level mutations in amyotrophic lateral sclerosis
    Natasha Luquin
    Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia
    Amyotroph Lateral Scler 11:76-82. 2010
    ..No SALS SOD1 somatic mutations were detected, but DHPLC would be useful in looking for somatic mutations in other SALS candidate genes...
  8. doi request reprint Using case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Sydney Medical School, The University of Sydney, Australia
    J Neurosci Methods 197:297-301. 2011
    ..An international collaborative effort will therefore be needed to collect sufficient numbers of such trios to reliably detect de novo mutations underlying these diseases...
  9. doi request reprint Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology D06, University of Sydney, Sydney, New South Wales 2006, Australia
    J Clin Neurosci 18:1231-4. 2011
    ..Since brain and hair share a common ectodermal origin, hair may be a more suitable tissue than blood to estimate somatic copy number variation in the brain...
  10. doi request reprint A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis
    Jennifer A Solski
    Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia
    Amyotroph Lateral Scler 13:465-70. 2012
    ..The identification of a TARDBP indel mutation in a patient with FAV extends the spectrum of mutations and further supports the role of TDP-43 in a range of neurodegenerative phenotypes...
  11. doi request reprint An approach to finding brain-situated mutations in sporadic Parkinson's disease
    Roger Pamphlett
    Department of Pathology, Sydney Medical School, The University of Sydney, New South Wales 2006, Australia
    Parkinsonism Relat Disord 18:82-5. 2012
    ..A method of undertaking a definitive study of brain somatic mutations in PD, using massively parallel sequencing and multiple tissues, is suggested...
  12. doi request reprint Unusual clinical and molecular-pathological profile of gerstmann-Sträussler-Scheinker disease associated with a novel PRNP mutation (V176G)
    Marion Simpson
    Department of Pathology, University of Melbourne, Victoria, Australia2Australian National Creutzfeldt Jakob Disease Registry, University of Melbourne, Victoria, Australia
    JAMA Neurol 70:1180-5. 2013
    ..Here we describe the unusual clinical and molecular-neuropathological profile of a case of Gerstmann-Sträussler-Scheinker disease associated with a novel prion protein (PRNP) gene mutation...
  13. pmc Can ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone?
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Sydney Medical School, The University of Sydney, Sydney, Australia
    PLoS ONE 8:e70007. 2013
    ..This suggests that a blood DNA test alone will usually be sufficient to make a diagnosis of C9orf72 repeat-related ALS. ..
  14. doi request reprint Smoking is not a risk factor for sporadic amyotrophic lateral sclerosis in an Australian population
    Roger Pamphlett
    Department of Pathology, Sydney Medical School, The University of Sydney, Sydney, NSW, Australia
    Neuroepidemiology 38:106-13. 2012
    ..We therefore undertook a large case-control study of smoking and SALS in Australia...
  15. doi request reprint The "somatic-spread" hypothesis for sporadic neurodegenerative diseases
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology D06, Sydney Medical School, The University of Sydney, New South Wales 2006, Australia
    Med Hypotheses 77:544-7. 2011
    ..Ultrasensitive techniques will be needed to detect the initiating genetic or environmental differences that are predicted to be present in only a few cells...
  16. doi request reprint A simple method for comparing microarray genotype data between brain and other tissues
    Mark E Ruff
    The Stacey MND Laboratory, Department of Pathology D06, The University of Sydney, NSW 2006, Australia
    J Neurosci Methods 173:315-7. 2008
    ..This flexible method can easily be customised by the investigator and would be of use in comparing microarray SNP data between multiple datasets, in particular where somatic mosaicism was suspected...
  17. doi request reprint Season and weather patterns at time of birth in amyotrophic lateral sclerosis
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology, The University of Sydney, Sydney, New South Wales, Australia
    Amyotroph Lateral Scler 13:459-64. 2012
    ..Early life factors related to weather conditions, such as increased humidity leading to more infectious diseases and allergens, need to be further investigated in ALS...
  18. ncbi request reprint A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases
    Rebecca B Saunderson
    Department of Pathology, The University of Sydney, Australia
    J Neurol Sci 267:125-8. 2008
    ..We hypothesised that patients with other sporadic motor neuron diseases could have AR expansions that were restricted to CNS tissue...
  19. doi request reprint An analysis of the entire SOD1 gene in sporadic ALS
    Natasha Luquin
    Department of Pathology, Blackburn Building D06, The University of Sydney, NSW 2006, Australia
    Neuromuscul Disord 18:545-52. 2008
    ..Although no unequivocal mutations were found, some of these variants have potential consequences for SALS pathogenesis...
  20. doi request reprint Inorganic mercury within motor neurons does not cause the TDP-43 changes seen in sporadic ALS
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology Neuropathology, The University of Sydney, Australia
    Toxicol Lett 201:58-61. 2011
    ..This experimental model could be further used to test which of the environmental toxicants implicated in SALS may in fact cause the disease...
  21. ncbi request reprint Genetic susceptibility to environmental toxicants in ALS
    Julia M Morahan
    The Stacey MND Laboratory, Department of Pathology, The University of Sydney, Sydney, New South Wales 2006, Australia
    Am J Med Genet B Neuropsychiatr Genet 144:885-90. 2007
    ..Differences in genes involved in handling toxicants, and interactions between toxicants and these genes, appear to be present in some patients with SALS. This suggests that impaired detoxification mechanisms play a role in SALS...
  22. ncbi request reprint An epigenetic analysis of SOD1 and VEGF in ALS
    Nathan Oates
    School of Molecular and Microbial Biosciences, The University of Sydney, Australia
    Amyotroph Lateral Scler 8:83-6. 2007
    ..However, in view of the potential for treatment of epigenetic disorders, promoter methylation in other genes required for motor neuron survival needs to be studied...
  23. ncbi request reprint A polymorphism in the poliovirus receptor gene differs in motor neuron disease
    Rebecca Saunderson
    Department of Pathology, D06, Central Clinical School, University of Sydney, New South Wales 2006, Australia
    Neuroreport 15:383-6. 2004
    ..Differences in the poliovirus receptor gene may result in slowly progressive viral cytopathic effects that lead to lower motor neuron forms of motor neuron disease...
  24. ncbi request reprint Detection of mutations in whole genome-amplified DNA from laser-microdissected neurons
    Roger Pamphlett
    Academic Units of Neurology, The University of Sheffield, UK
    J Neurosci Methods 147:65-7. 2005
    ..This technique can be used to obtain increased amounts of genomic DNA to study mutations within cells of the nervous system...