Roger Pamphlett

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 34

Top Topics

Muscular Dystrophy

Amyotrophic Lateral Sclerosis

Top Venues

Science advances

Scientific reports

Amyotrophic lateral sclerosis & frontotemporal degeneration

This page only lists publications with an associated author ORCID identifier.

Publications

Lyndal Henden, Liam G Fearnley, Dean Southwood, Andrew Smith, Dominic B Rowe, Matthew C Kiernan, Roger Pamphlett, Melanie Bahlo, Ian P Blair, Kelly Louise Williams
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry. Amyotrophic lateral sclerosis & frontotemporal degeneration (2024)
Lyndal Henden, Liam G Fearnley, Dean Southwood, Andrew Smith, Dominic B Rowe, Matthew C Kiernan, Roger Pamphlett, Melanie Bahlo, Ian P Blair, Kelly Louise Williams
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry. Amyotrophic lateral sclerosis & frontotemporal degeneration 25 (5-6) (2024)
Lyndal Henden, Liam G Fearnley, Dean Southwood, Andrew Smith, Dominic B Rowe, Matthew C Kiernan, Roger Pamphlett, Melanie Bahlo, Ian P Blair, Kelly Louise Williams
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry. Amyotrophic lateral sclerosis & frontotemporal degeneration (2024)
Lyndal Henden, Liam G Fearnley, Natalie Grima, Emily P McCann, Carol Dobson-Stone, Lauren Fitzpatrick, Kathryn Friend, Lynne Hobson, Sandrine Chan Moi Fat, Dominic B Rowe, Susan D'Silva, John B J Kwok, Glenda M Halliday, Matthew C Kiernan, Srestha Mazumder, Hannah C Timmins, Margaret Zoing, Roger Pamphlett, Lorel Adams, Melanie Bahlo, Ian P Blair, Kelly Louise Williams
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia. Science advances 9 (18) (2023)
Roger Pamphlett, Michael E Buckland, David P Bishop
Potentially toxic elements in the brains of people with multiple sclerosis. Scientific reports 13 (1) (2023)
Lyndal Henden, Liam G Fearnley, Natalie Grima, Emily P McCann, Carol Dobson-Stone, Lauren Fitzpatrick, Kathryn Friend, Lynne Hobson, Sandrine Chan Moi Fat, Dominic B Rowe, Susan D'Silva, John B J Kwok, Glenda M Halliday, Matthew C Kiernan, Srestha Mazumder, Hannah C Timmins, Margaret Zoing, Roger Pamphlett, Lorel Adams, Melanie Bahlo, Ian P Blair, Kelly Louise Williams
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia. Science advances 9 (18) (2023)
Lyndal Henden, Liam G Fearnley, Natalie Grima, Emily P McCann, Carol Dobson-Stone, Lauren Fitzpatrick, Kathryn Friend, Lynne Hobson, Sandrine Chan Moi Fat, Dominic B Rowe, Susan D'Silva, John B J Kwok, Glenda M Halliday, Matthew C Kiernan, Srestha Mazumder, Hannah C Timmins, Margaret Zoing, Roger Pamphlett, Lorel Adams, Melanie Bahlo, Ian P Blair, Kelly Louise Williams
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia. Science advances 9 (18) (2023)
Lyndal Henden, Liam G Fearnley, Natalie Grima, Emily P McCann, Carol Dobson-Stone, Lauren Fitzpatrick, Kathryn Friend, Lynne Hobson, Sandrine Chan Moi Fat, Dominic B Rowe, Susan D'Silva, John B J Kwok, Glenda M Halliday, Matthew C Kiernan, Srestha Mazumder, Hannah C Timmins, Margaret Zoing, Roger Pamphlett, Lorel Adams, Melanie Bahlo, Ian P Blair, Kelly Louise Williams
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia. Science advances 9 (18) (2023)
Roger Pamphlett, Michael E Buckland, David P Bishop
Potentially toxic elements in the brains of people with multiple sclerosis. Scientific reports 13 (1) (2023)
Roger Pamphlett, Michael E Buckland, David P Bishop
Potentially toxic elements in the brains of people with multiple sclerosis. Scientific reports 13 (1) (2023)
Lyndal Henden, Liam G Fearnley, Natalie Grima, Emily P McCann, Carol Dobson-Stone, Lauren Fitzpatrick, Kathryn Friend, Lynne Hobson, Sandrine Chan Moi Fat, Dominic B Rowe, Susan D'Silva, John B J Kwok, Glenda M Halliday, Matthew C Kiernan, Srestha Mazumder, Hannah C Timmins, Margaret Zoing, Roger Pamphlett, Lorel Adams, Melanie Bahlo, Ian P Blair, Kelly Louise Williams
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia. Science advances 9 (18) (2023)
Roger Pamphlett, Michael E Buckland, David P Bishop
Potentially toxic elements in the brains of people with multiple sclerosis. Scientific reports 13 (1) (2023)
Paul J Hop, Ramona A J Zwamborn, Eilis J Hannon, Gemma L Shireby, Marta F Nabais, Emma M Walker, Wouter Van Rheenen, Joke J F A van Vugt, Annelot M Dekker, Henk-Jan Westeneng, Gijs H P Tazelaar, Kristel R van Eijk, Matthieu Moisse, Denis Baird, Ahmad Al Khleifat, Alfredo Iacoangeli, Nicola Ticozzi, Antonia Ratti, Johnathan Cooper-Knock, Karen E Morrison, Dame Pamela J Shaw, Ayse Nazli Basak, Adriano Chio, Andrea Calvo, Cristina Moglia, Antonio Canosa, Maura Brunetti, Maurizio Grassano, Marc Gotkine, Yossef Lerner, Michal Zabari, Patrick Vourc'h, Philippe Corcia, Philippe Couratier, Jesus S Mora, Teresa Salas, Patrick Dion, Jay P Ross, Robert David Henderson, Susan Mathers, Pamela A McCombe, Merrilee Needham, Garth Nicholson, Dominic B Rowe, Roger Pamphlett, Karen A Mather, Perminder Singh Sachdev, Sarah Furlong, Fleur C Garton, Anjali K Henders, Tian Lin, Shyuan T Ngo, Frederik J Steyn, Leanne Wallace, Kelly Louise Williams, null null, null null, Miguel Mitne Neto, Ruben J Cauchi, Ian P Blair, Matthew C Kiernan, Vivian Drory, Monica Povedano, Mamede de Carvalho, Susana Pinto, Markus Weber, Guy A Rouleau, Vincenzo Silani, John E Landers, Christopher E Shaw, Peter Munch Andersen, Allan F McRae, Michael A van Es, R Jeroen Pasterkamp, Naomi R Wray, Russell Lewis McLaughlin, Orla Hardiman, Kevin P Kenna, Ellen A Tsai, Heiko Runz, Ammar Al Chalabi, Leonard H van den Berg, Philip Van Damme, Jonathan S Mill, Jan Herman Veldink
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Science translational medicine 14 (633) (2022)
Roger Pamphlett, David P Bishop
Mercury is present in neurons and oligodendrocytes in regions of the brain affected by Parkinson's disease and co-localises with Lewy bodies. PloS one 17 (1) (2022)
Wouter Van Rheenen, Rick A A van der Spek, Mark K Bakker, Joke J F A van Vugt, Paul J Hop, Ramona A J Zwamborn, Niek de Klein, Harm-Jan Westra, Olivier B Bakker, Patrick Deelen, Gemma Shireby, Eilis J Hannon, Matthieu Moisse, Denis Baird, Restuadi Restuadi, Egor Dolzhenko, Annelot M Dekker, Klara Gawor, Henk-Jan Westeneng, Gijs H P Tazelaar, Kristel R van Eijk, Maarten Kooyman, Ross P Byrne, Mark Doherty, Mark Heverin, Ahmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, Nicola Ticozzi, Johnathan Cooper-Knock, Bradley N Smith, Marta Gromicho, Siddharthan Chandran, Suvankar Pal, Karen E Morrison, Pamela J Shaw, John Hardy, Richard W Orrell, Michael Sendtner, Thomas Meyer, Nazli Başak, Anneke J van der Kooi, Antonia Ratti, Isabella Fogh, Cinzia Gellera, Giuseppe Lauria, Stefania Corti, Cristina Cereda, Daisy Sproviero, Sandra D'Alfonso, Gianni Sorarù, Gabriele Siciliano, Massimiliano Filosto, Alessandro Padovani, Adriano Chiò, Andrea Calvo, Cristina Moglia, Maura Brunetti, Antonio Canosa, Maurizio Grassano, Ettore Beghi, Elisabetta Pupillo, Giancarlo Logroscino, Beatrice Nefussy, Alma Osmanovic, Angelica Nordin, Yossef Lerner, Michal Zabari, Marc Gotkine, Robert H Baloh, Shaughn Bell, Patrick Vourc'h, Philippe Corcia, Philippe Couratier, Stéphanie Millecamps, Vincent Meininger, François Salachas, Jesus S Mora Pardina, Abdelilah Assialioui, Ricardo Rojas-García, Patrick A Dion, Jay P Ross, Albert C Ludolph, Jochen H Weishaupt, David Brenner, Axel Freischmidt, Gilbert Bensimon, Alexis Brice, Alexandra Durr, Christine A M Payan, Safa Saker-Delye, Nicholas W Wood, Simon D Topp, Rosa Rademakers, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Stephan Ripke, Alice Braun, Julia Kraft, David C Whiteman, Catherine M Olsen, Andre G Uitterlinden, Albert Hofman, Marcella D C Rietschel, Sven Cichon, Markus Maria Nöthen, Phillippe Amouyel, null null, null null, null null, null null, Bryan J Traynor, Andrew B Singleton, Miguel Mitne Neto, Ruben J Cauchi, Roel A Ophoff, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivanna M Van Deerlin, Julian Grosskreutz, Annekathrin Roediger, Nayana Gaur, Alexander Jörk, Tabea Barthel, Erik Theele, Benjamin Ilse, Beatrice Stubendorff, Otto W Witte, Robert Steinbach, Christian A Hübner, Caroline Graff, Lev Brylev, Vera Fominykh, Vera Demeshonok, Anastasia Ataulina, Boris Rogelj, Blaz Koritnik, Janez Zidar, Metka Ravnik-Glavač, Damjan Glavač, Zorica Stević, Vivian Drory, Monica Povedano, Ian P Blair, Matthew C Kiernan, Beben Benyamin, Robert D Henderson, Sarah Furlong, Susan Mathers, Pamela A McCombe, Merrilee Needham, Shyuan T Ngo, Garth A Nicholson, Roger Pamphlett, Dominic B Rowe, Frederik J Steyn, Kelly Louise Williams, Karen A Mather, Perminder Singh Sachdev, Anjali K Henders, Leanne Wallace, Mamede de Carvalho, Susana Pinto, Susanne Petri, Markus Weber, Guy A Rouleau, Vincenzo Silani, Charles J Curtis, Gerome D Breen, Jonathan D Glass, Robert H Brown, John E Landers, Christopher E Shaw, Peter Munch Andersen, Ewout Joan Nicolaas Groen, Michael A Van Es, Ronald Jeroen Pasterkamp, Dongsheng Fan, Fleur C Garton, Allan F McRae, George Davey Smith, Tom R Gaunt, Michael A Eberle, Jonathan S Mill, Russell Lewis McLaughlin, Orla Hardiman, Kevin P Kenna, Naomi R Wray, Ellen A Tsai, Heiko Runz, Lude H Franke, Ammar Al Chalabi, Philip Van Damme, Leonard H van den Berg, Jan Herman Veldink
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature genetics 53 (12) (2021)
Roger Pamphlett, Philip A Doble, David P Bishop
Mercury in the human thyroid gland: Potential implications for thyroid cancer, autoimmune thyroiditis, and hypothyroidism. PloS one 16 (2) (2021)
Roger Pamphlett, Min-Xia Wang, Renee Cf Chan
Challenges in diagnosing hydroxychloroquine myopathy during the COVID-19 pandemic. Internal medicine journal 50 (12) (2021)
Restuadi Restuadi, Fleur C Garton, Beben Benyamin, Tian Lin, Kelly Louise Williams, Anna Vinkhuyzen, Wouter Van Rheenen, Zhihong Zhu, Nigel G Laing, Karen A Mather, Perminder Singh Sachdev, Shyuan T Ngo, Frederik J Steyn, Leanne Wallace, Anjali K Henders, Peter M Visscher, Merrilee Needham, Susan Mathers, Garth Nicholson, Dominic B Rowe, Robert D Henderson, Pamela A McCombe, Roger Pamphlett, Ian P Blair, Naomi R Wray, Allan F McRae
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia. European journal of human genetics : EJHG (2021)
Roger Pamphlett, Philip A Doble, David P Bishop
The Prevalence of Inorganic Mercury in Human Kidneys Suggests a Role for Toxic Metals in Essential Hypertension. Toxics 9 (3) (2021)
Emily P McCann, Lyndal Henden, Jennifer A Fifita, Katharine Y Zhang, Natalie Grima, Denis Carolin Bauer, Sandrine Chan Moi Fat, Natalie A Twine, Roger Pamphlett, Matthew C Kiernan, Dominic B Rowe, Kelly Louise Williams, Ian P Blair
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis. Journal of medical genetics (2020)
Roger Pamphlett, Stephen Kum Jew, Philip A Doble, David P Bishop
Elemental imaging shows mercury in cells of the human lateral and medial geniculate nuclei. PloS one 15 (4) (2020)
Roger Pamphlett, Svetlana Cherepanoff, Lay Khoon Too, Stephen Kum Jew, Philip A Doble, David P Bishop
The distribution of toxic metals in the human retina and optic nerve head: Implications for age-related macular degeneration. PloS one 15 (10) (2020)
Roger Pamphlett, Rachel Mak, Joonsup Lee, Michael E Buckland, Antony J Harding, Stephen Kum Jew, David J Paterson, Michael W M Jones, Peter A Lay
Concentrations of toxic metals and essential trace elements vary among individual neurons in the human locus ceruleus. PloS one 15 (5) (2020)
Roger Pamphlett, Andrew J Colebatch, Philip A Doble, David P Bishop
Mercury in Pancreatic Cells of People with and without Pancreatic Cancer. International journal of environmental research and public health 17 (23) (2020)
Roger Pamphlett, Laveniya Satgunaseelan, Stephen Kum Jew, Philip A Doble, David P Bishop
Elemental bioimaging shows mercury and other toxic metals in normal breast tissue and in breast cancers. PloS one 15 (1) (2020)
Roger Pamphlett, Stephen Kum Jew, Svetlana Cherepanoff
Mercury in the retina and optic nerve following prenatal exposure to mercury vapor. PloS one 14 (8) (2019)
Roger Pamphlett, David P Bishop, Stephen Kum Jew, Philip A Doble
Age-related accumulation of toxic metals in the human locus ceruleus. PloS one 13 (9) (2018)
Jane A Parkin Kullmann, Susan Hayes, Roger Pamphlett
Are people with amyotrophic lateral sclerosis (ALS) particularly nice? An international online case-control study of the Big Five personality factors. Brain and behavior 8 (10) (2018)
Jane Alana Parkin Kullmann, Susan Hayes, Roger Pamphlett
Is psychological stress a predisposing factor for amyotrophic lateral sclerosis (ALS)? An online international case-control study of premorbid life events, occupational stress, resilience and anxiety. PloS one 13 (9) (2018)
Jane A Parkin Kullmann, Roger Pamphlett
A Comparison of Mercury Exposure from Seafood Consumption and Dental Amalgam Fillings in People with and without Amyotrophic Lateral Sclerosis (ALS): An International Online Case-Control Study. International journal of environmental research and public health 15 (12) (2018)
Roger Pamphlett, Stephen Kum Jew
Inorganic mercury in human astrocytes, oligodendrocytes, corticomotoneurons and the locus ceruleus: implications for multiple sclerosis, neurodegenerative disorders and gliomas. Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine 31 (5) (2018)
Jane Alana Parkin Kullmann, Roger Pamphlett
Does the index-to-ring finger length ratio (2D:4D) differ in amyotrophic lateral sclerosis (ALS)? Results from an international online case-control study. BMJ open 7 (8) (2017)
Roger Pamphlett, Stephen Kum Jew
Age-Related Uptake of Heavy Metals in Human Spinal Interneurons. PloS one 11 (9) (2016)
Wouter van Rheenen, Aleksey Shatunov, Annelot M Dekker, Russell L McLaughlin, Frank P Diekstra, Sara L Pulit, Rick A A van der Spek, Urmo Võsa, Simone de Jong, Matthew R Robinson, Jian Yang, Isabella Fogh, Perry Tc van Doormaal, Gijs H P Tazelaar, Max Koppers, Anna M Blokhuis, William Sproviero, Ashley R Jones, Kevin P Kenna, Kristel R van Eijk, Oliver Harschnitz, Raymond D Schellevis, William J Brands, Jelena Medic, Androniki Menelaou, Alice Vajda, Nicola Ticozzi, Kuang Lin, Boris Rogelj, Katarina Vrabec, Metka Ravnik-Glavač, Blaz Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Jesus S Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen E Morrison, Pamela J Shaw, John Hardy, Richard W Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon D Topp, Susanne Petri, Susanne Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A Ophoff, Kim A Staats, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivanna M Van Deerlin, John Q Trojanowski, Lauren Elman, Leo McCluskey, A Nazli Basak, Ceren Tunca, Hamid Hamzeiy, Yesim Parman, Thomas Meitinger, Peter Lichtner, Milena Radivojkov-Blagojevic, Christian R Andres, Cindy Maurel, Gilbert Bensimon, Bernhard Landwehrmeyer, Alexis Brice, Christine A M Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas W Wood, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Marcella Rietschel, Sven Cichon, Markus M Nöthen, Phillippe Amouyel, Christophe Tzourio, Jean-François Dartigues, Andre G Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Hylke M Blauw, Anneke J van der Kooi, Marianne de Visser, An Goris, Markus Weber, Christopher E Shaw, Bradley N Smith, Orietta Pansarasa, Cristina Cereda, Roberto Del Bo, Giacomo P Comi, Sandra D'Alfonso, Cinzia Bertolin, Gianni Sorarù, Letizia Mazzini, Viviana Pensato, Cinzia Gellera, Cinzia Tiloca, Antonia Ratti, Andrea Calvo, Cristina Moglia, Maura Brunetti, Simona Arcuti, Rosa Capozzo, Chiara Zecca, Christian Lunetta, Silvana Penco, Nilo Riva, Alessandro Padovani, Massimiliano Filosto, Bernard Muller, Robbert Jan Stuit, null null, null null, null null, null null, null null, null null, Ian Blair, Katharine Zhang, Emily P McCann, Jennifer A Fifita, Garth A Nicholson, Dominic B Rowe, Roger Pamphlett, Matthew C Kiernan, Julian Grosskreutz, Otto W Witte, Thomas Ringer, Tino Prell, Beatrice Stubendorff, Ingo Kurth, Christian A Hübner, P Nigel Leigh, Federico Casale, Adriano Chio, Ettore Beghi, Elisabetta Pupillo, Rosanna Tortelli, Giancarlo Logroscino, John Powell, Albert C Ludolph, Jochen H Weishaupt, Wim Robberecht, Philip Van Damme, Lude H Franke, Tune H Pers, Robert H Brown, Jonathan D Glass, John E Landers, Orla Hardiman, Peter M Andersen, Philippe Corcia, Patrick Vourc'h, Vincenzo Silani, Naomi R Wray, Peter M Visscher, Paul I W de Bakker, Michael A van Es, Ronald Jeroen Pasterkamp, Cathryn M Lewis, Gerome Breen, Ammar Al-Chalabi, Leonard H van den Berg, Jan H Veldink
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature genetics 48 (9) (2016)
Jane Alana Parkin Kullmann, Susan Hayes, Min-Xia Wang, Roger Pamphlett
Designing an Internationally Accessible Web-Based Questionnaire to Discover Risk Factors for Amyotrophic Lateral Sclerosis: A Case-Control Study. JMIR research protocols 4 (3) (2015)