Roger Pamphlett

Roger Pamphlett

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Roger Pamphlett

Publications by authors named "Roger Pamphlett"

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Mercury Is Taken Up Selectively by Cells Involved in Joint, Bone, and Connective Tissue Disorders.

Front Med (Lausanne) 2019 19;6:168. Epub 2019 Jul 19.

Discipline of Pathology, Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.

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https://www.frontiersin.org/article/10.3389/fmed.2019.00168/
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http://dx.doi.org/10.3389/fmed.2019.00168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659129PMC
July 2019

Elemental Analysis of Aging Human Pituitary Glands Implicates Mercury as a Contributor to the Somatopause.

Front Endocrinol (Lausanne) 2019 26;10:419. Epub 2019 Jun 26.

The Atomic Medicine Initiative, University of Technology, Sydney, NSW, Australia.

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http://dx.doi.org/10.3389/fendo.2019.00419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6607410PMC
June 2019

Anti-SRP associated necrotizing autoimmune myopathy presenting with asymptomatically elevated creatine kinase.

Muscle Nerve 2019 03 9;59(3):E17-E19. Epub 2019 Jan 9.

Concord Hospital, Sydney, Hospital Road, Concord, NSW 2137, Australia.

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http://dx.doi.org/10.1002/mus.26388DOI Listing
March 2019

Age-related accumulation of toxic metals in the human locus ceruleus.

PLoS One 2018 19;13(9):e0203627. Epub 2018 Sep 19.

Elemental Bio-imaging Facility, University of Technology, Sydney, New South Wales, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203627PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145836PMC
February 2019

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.

Int J Environ Res Public Health 2018 12 14;15(12). Epub 2018 Dec 14.

The Stacey Motor Neuron Disease Laboratory, Discipline of Pathology, Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, NSW 2050, Australia.

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http://dx.doi.org/10.3390/ijerph15122874DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6313312PMC
December 2018

Are people with amyotrophic lateral sclerosis (ALS) particularly nice? An international online case-control study of the Big Five personality factors.

Brain Behav 2018 10 21;8(10):e01119. Epub 2018 Sep 21.

The Stacey Motor Neuron Disease Laboratory, Discipline of Pathology, The University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/brb3.1119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192405PMC
October 2018

Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.

Neurodegener Dis 2017 11;17(6):304-312. Epub 2017 Nov 11.

Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.

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http://dx.doi.org/10.1159/000481258DOI Listing
July 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Epigenetic differences between monozygotic twins discordant for amyotrophic lateral sclerosis (ALS) provide clues to disease pathogenesis.

PLoS One 2017 10;12(8):e0182638. Epub 2017 Aug 10.

Division of Molecular Structural and Computational Biology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0182638PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552194PMC
October 2017

Age-Related Uptake of Heavy Metals in Human Spinal Interneurons.

PLoS One 2016 9;11(9):e0162260. Epub 2016 Sep 9.

Discipline of Pathology, Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0162260PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017773PMC
August 2017

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 2017 08 7;7(8):e016924. Epub 2017 Aug 7.

Discipline of Pathology, Sydney Medical School, Brain and Mind Centre, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1136/bmjopen-2017-016924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726056PMC
August 2017

Environmental insults: critical triggers for amyotrophic lateral sclerosis.

Transl Neurodegener 2017 16;6:15. Epub 2017 Jun 16.

Discipline of Pathology, Brain and Mind Centre, The University of Sydney, 94 Mallett St, Camperdown, NSW 2050 Australia.

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http://dx.doi.org/10.1186/s40035-017-0087-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472994PMC
June 2017

CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Cav3.2 T-type calcium channel activity and reticular thalamic neuron firing.

Channels (Austin) 2016 Nov 22;10(6):466-77. Epub 2016 Jun 22.

a Institute of Organic Chemistry and Biochemistry, Academy of Sciences of the Czech Republic , Prague , Czech Republic.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034776PMC
http://dx.doi.org/10.1080/19336950.2016.1204497DOI Listing
November 2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
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 Blaž 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 Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna 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 Philippe 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 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 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 R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2015 11;16(5-6):385-92. Epub 2015 May 11.

c The Stacey MND Laboratory, Discipline of Pathology, Sydney Medical School, The Brain & Mind Research Institute, The University of Sydney , New South Wales , Australia.

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http://dx.doi.org/10.3109/21678421.2015.1040029DOI Listing
August 2016

Rhabdomyolysis as a late complication of bariatric surgery.

J Neurol Sci 2016 May 17;364:102-4. Epub 2016 Mar 17.

Department of Neurophysiology, Liverpool Hospital, Locked Bag 7103, Liverpool, NSW 1871, Australia; South Western Clinical School, University of NSW, Level 2, Clinical Building, Liverpool Hospital, Cnr Elizabeth and Goulburn Sts, Liverpool, NSW 2170, Australia.

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http://dx.doi.org/10.1016/j.jns.2016.03.027DOI Listing
May 2016

Locus ceruleus neurons in people with autism contain no histochemically-detectable mercury.

Biometals 2016 Feb 27;29(1):171-5. Epub 2015 Nov 27.

Discipline of Pathology, The University of Sydney, Brain and Mind Centre, Camperdown, NSW, 2050, Australia.

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http://dx.doi.org/10.1007/s10534-015-9898-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735248PMC
February 2016

Different Populations of Human Locus Ceruleus Neurons Contain Heavy Metals or Hyperphosphorylated Tau: Implications for Amyloid-β and Tau Pathology in Alzheimer's Disease.

J Alzheimers Dis 2015 ;45(2):437-47

Department of Pathology, Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.3233/JAD-142445DOI Listing
January 2016

Is the risk of motor neuron disease increased or decreased after cancer? An Australian case-control study.

PLoS One 2014 24;9(7):e103572. Epub 2014 Jul 24.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Sydney Medical School, The University of Sydney, Sydney, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0103572PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110050PMC
November 2015

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Sci Rep 2015 Mar 16;5:9124. Epub 2015 Mar 16.

The Stacey MND Laboratory, Department of Pathology, The University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/srep09124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360641PMC
March 2015

Different occupations associated with amyotrophic lateral sclerosis: is diesel exhaust the link?

PLoS One 2013 11;8(11):e80993. Epub 2013 Nov 11.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Sydney Medical School, the University of Sydney, Sydney, New South Wales, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080993PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3823610PMC
February 2015

Can ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone?

PLoS One 2013 19;8(7):e70007. Epub 2013 Jul 19.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Sydney Medical School, The University of Sydney, Sydney, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0070007PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3716700PMC
March 2014

Uptake of environmental toxicants by the locus ceruleus: a potential trigger for neurodegenerative, demyelinating and psychiatric disorders.

Authors:
Roger Pamphlett

Med Hypotheses 2014 Jan 21;82(1):97-104. Epub 2013 Nov 21.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Sydney Medical School, The University of Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.mehy.2013.11.016DOI Listing
January 2014

Heavy metals in locus ceruleus and motor neurons in motor neuron disease.

Acta Neuropathol Commun 2013 Dec 12;1:81. Epub 2013 Dec 12.

Department of Pathology, The Stacey Motor Neuron Disease Laboratory, Sydney Medical School, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1186/2051-5960-1-81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3878779PMC
December 2013

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2013 Sep 28;34(9):2235.e7-10. Epub 2013 Apr 28.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.04.003DOI Listing
September 2013

Unusual clinical and molecular-pathological profile of gerstmann-Sträussler-Scheinker disease associated with a novel PRNP mutation (V176G).

JAMA Neurol 2013 Sep;70(9):1180-5

Department of Pathology, University of Melbourne, Victoria, Australia2Australian National Creutzfeldt-Jakob Disease Registry, University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1001/jamaneurol.2013.165DOI Listing
September 2013

Uptake of inorganic mercury by human locus ceruleus and corticomotor neurons: implications for amyotrophic lateral sclerosis.

Acta Neuropathol Commun 2013 May 9;1:13. Epub 2013 May 9.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Sydney Medical School, The University of Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1186/2051-5960-1-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893560PMC
May 2013

A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2012 Sep 16;13(5):465-70. Epub 2012 Mar 16.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.

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http://dx.doi.org/10.3109/17482968.2012.662690DOI Listing
September 2012

Season and weather patterns at time of birth in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2012 Sep 7;13(5):459-64. Epub 2012 Aug 7.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology, The University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.3109/17482968.2012.700938DOI Listing
September 2012

Smoking is not a risk factor for sporadic amyotrophic lateral sclerosis in an Australian population.

Neuroepidemiology 2012 24;38(2):106-13. Epub 2012 Feb 24.

Department of Pathology, Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1159/000336013DOI Listing
June 2012

Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study.

Neuroreport 2012 Jun;23(9):556-9

The Stacey Motor Neuron Disease Laboratory, Department of Pathology D06, The University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1097/WNR.0b013e3283544718DOI Listing
June 2012

An approach to finding brain-situated mutations in sporadic Parkinson's disease.

Parkinsonism Relat Disord 2012 Jan 13;18(1):82-5. Epub 2011 Sep 13.

Department of Pathology, Sydney Medical School, The University of Sydney, New South Wales 2006, Australia.

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http://dx.doi.org/10.1016/j.parkreldis.2011.08.024DOI Listing
January 2012

The "somatic-spread" hypothesis for sporadic neurodegenerative diseases.

Authors:
Roger Pamphlett

Med Hypotheses 2011 Oct 2;77(4):544-7. Epub 2011 Jul 2.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology D06, Sydney Medical School, The University of Sydney, New South Wales 2006, Australia.

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http://dx.doi.org/10.1016/j.mehy.2011.06.027DOI Listing
October 2011

Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis.

Muscle Nerve 2011 Oct 8;44(4):492-8. Epub 2011 Aug 8.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Neuropathology Division, University of Sydney, Sydney, New South Wales 2006, Australia.

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http://dx.doi.org/10.1002/mus.22095DOI Listing
October 2011

Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis.

J Clin Neurosci 2011 Sep 7;18(9):1231-4. Epub 2011 Jul 7.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology D06, University of Sydney, Sydney, New South Wales 2006, Australia.

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http://dx.doi.org/10.1016/j.jocn.2010.12.049DOI Listing
September 2011

Using case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases.

J Neurosci Methods 2011 Apr 15;197(2):297-301. Epub 2011 Mar 15.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology, Sydney Medical School, The University of Sydney, Australia.

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http://dx.doi.org/10.1016/j.jneumeth.2011.02.028DOI Listing
April 2011

Inorganic mercury within motor neurons does not cause the TDP-43 changes seen in sporadic ALS.

Toxicol Lett 2011 Feb 15;201(1):58-61. Epub 2010 Dec 15.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology (Neuropathology), The University of Sydney, Australia.

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http://dx.doi.org/10.1016/j.toxlet.2010.12.005DOI Listing
February 2011

Overview and recent advances in neuropathology. Part 2: Neurodegeneration.

Pathology 2011 Feb;43(2):93-102

Mental Health Research Institute, University of Melbourne, Parkville, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00313025163304
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http://dx.doi.org/10.1097/PAT.0b013e3283426eeeDOI Listing
February 2011

DHPLC can be used to detect low-level mutations in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2010 ;11(1-2):76-82

Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia.

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http://dx.doi.org/10.3109/17482960802572699DOI Listing
August 2010

Study of 962 patients indicates progressive muscular atrophy is a form of ALS.

Authors:
Roger Pamphlett

Neurology 2010 Jun;74(23):1926; author reply 1926-7

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http://dx.doi.org/10.1212/WNL.0b013e3181e03b59DOI Listing
June 2010

A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2009 Oct-Dec;10(5-6):418-29

Department of Pathology, The Stacey Motor Neuron Disease Laboratory, The University of Sydney, Sydney, New South Wales 2006, Australia.

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http://dx.doi.org/10.3109/17482960802635397DOI Listing
February 2010

Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis.

Neuromuscul Disord 2009 Oct 19;19(10):696-700. Epub 2009 Aug 19.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.nmd.2009.07.005DOI Listing
October 2009

What lies beneath the tent? JC-virus cerebellar granule cell neuronopathy complicating sarcoidosis.

J Clin Neurosci 2009 Aug 25;16(8):1091-2. Epub 2009 Apr 25.

Department of Neurology, St George Hospital, Kogarah, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.jocn.2008.07.091DOI Listing
August 2009

TDP-43 inclusions do not protect motor neurons from sporadic ALS.

Acta Neuropathol 2008 Aug 3;116(2):221-2. Epub 2008 Jun 3.

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http://dx.doi.org/10.1007/s00401-008-0392-0DOI Listing
August 2008

A simple method for comparing microarray genotype data between brain and other tissues.

J Neurosci Methods 2008 Aug 3;173(2):315-7. Epub 2008 Jul 3.

The Stacey MND Laboratory, Department of Pathology D06, The University of Sydney, NSW 2006, Australia.

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http://dx.doi.org/10.1016/j.jneumeth.2008.06.023DOI Listing
August 2008

An analysis of the entire SOD1 gene in sporadic ALS.

Neuromuscul Disord 2008 Jul 27;18(7):545-52. Epub 2008 May 27.

Department of Pathology, Blackburn Building D06, The University of Sydney, NSW 2006, Australia.

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http://dx.doi.org/10.1016/j.nmd.2008.04.013DOI Listing
July 2008

A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases.

J Neurol Sci 2008 Apr 13;267(1-2):125-8. Epub 2007 Nov 13.

Department of Pathology, The University of Sydney, Australia.

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http://dx.doi.org/10.1016/j.jns.2007.10.006DOI Listing
April 2008

Genetic susceptibility to environmental toxicants in ALS.

Am J Med Genet B Neuropsychiatr Genet 2007 Oct;144B(7):885-90

The Stacey MND Laboratory, Department of Pathology, The University of Sydney, Sydney, New South Wales 2006, Australia.

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http://dx.doi.org/10.1002/ajmg.b.30543DOI Listing
October 2007

A gene-environment study of the paraoxonase 1 gene and pesticides in amyotrophic lateral sclerosis.

Neurotoxicology 2007 May 26;28(3):532-40. Epub 2006 Nov 26.

The Stacey MND Laboratory, Department of Pathology, The University of Sydney, Sydney, NSW 2006, Australia.

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http://dx.doi.org/10.1016/j.neuro.2006.11.007DOI Listing
May 2007

Polyglucosan body disease myopathy: an unusual presentation.

Muscle Nerve 2007 Apr;35(4):536-9

Prince of Wales Medical Research Institute and Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia.

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http://dx.doi.org/10.1002/mus.20720DOI Listing
April 2007

An epigenetic analysis of SOD1 and VEGF in ALS.

Amyotroph Lateral Scler 2007 Apr;8(2):83-6

School of Molecular and Microbial Biosciences, The University of Sydney, Australia.

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http://dx.doi.org/10.1080/17482960601149160DOI Listing
April 2007

Are enteroviral receptors different in sporadic motor neuron disease?

Amyotroph Lateral Scler 2007 Feb;8(1):26-30

Department of Pathology, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1080/17482960600864009DOI Listing
February 2007

Are metallothionein genes silenced in ALS?

Toxicol Lett 2007 Jan 15;168(1):83-7. Epub 2006 Nov 15.

The Stacey MND Laboratory, Department of Pathology, The University of Sydney, Australia.

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http://dx.doi.org/10.1016/j.toxlet.2006.11.003DOI Listing
January 2007

Amyotrophic lateral sclerosis and exposure to environmental toxins: an Australian case-control study.

Neuroepidemiology 2006 1;27(3):130-5. Epub 2006 Aug 1.

Department of Pathology, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1159/000095552DOI Listing
December 2006

Riluzole therapy for motor neurone disease: an early Australian experience (1996-2002).

J Clin Neurosci 2006 Jan;13(1):78-83

Multidisciplinary Motor Neurone Disease Service, Institute of Neurological Sciences, Prince of Wales Hospital, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.jocn.2004.04.011DOI Listing
January 2006

A cast-iron guarantee of ataxia and deafness.

J Clin Neurosci 2005 Sep;12(7):807-8

Department of Pathology, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.jocn.2004.09.011DOI Listing
September 2005

Macrophagic myofasciitis associated with vaccine-derived aluminium.

Med J Aust 2005 Aug;183(3):145-6

University of Sydney, Sydney, NSW.

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August 2005

Detection of mutations in whole genome-amplified DNA from laser-microdissected neurons.

J Neurosci Methods 2005 Aug 14;147(1):65-7. Epub 2005 Apr 14.

Academic Units of Neurology, The University of Sheffield, UK.

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http://dx.doi.org/10.1016/j.jneumeth.2005.03.005DOI Listing
August 2005

It takes only 100 true-false items to test medical students: true or false?

Authors:
Roger Pamphlett

Med Teach 2005 Aug;27(5):468-72

Department of Pathology, The University of Sydney, Australia.

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http://dx.doi.org/10.1080/01421590500097018DOI Listing
August 2005

Flaviviruses in motor neuron disease.

Muscle Nerve 2005 Jul;32(1):108-9

Department of Pathology, D06, School of Medical Sciences, University of Sydney, Sydney, New South Wales 2006, Australia.

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http://dx.doi.org/10.1002/mus.20320DOI Listing
July 2005

Screening the metallothionein III gene in sporadic amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Other Motor Neuron Disord 2005 Jun;6(2):115-7

Department of Pathology, The University of Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1080/14660820410021249DOI Listing
June 2005

Does selenium deficiency unmask mercury toxicity in motor neurons?

Neurotoxicol Teratol 2005 Mar-Apr;27(2):241-4. Epub 2004 Dec 8.

Department of Pathology D06, The University of Sydney, Sydney, New South Wales 2006, Australia.

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http://dx.doi.org/10.1016/j.ntt.2004.11.004DOI Listing
May 2005

Somatic mutation: a cause of sporadic neurodegenerative diseases?

Authors:
Roger Pamphlett

Med Hypotheses 2004 ;62(5):679-82

Department of Pathology, The University of Sydney, Sydney, NSW 2006, Australia.

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http://dx.doi.org/10.1016/j.mehy.2003.11.023DOI Listing
November 2004

Cytoplasmic body myopathy masquerading as motor neuron disease.

Muscle Nerve 2004 Nov;30(5):667-72

Multidisciplinary Motor Neuron Disease Service, Institute of Neurological Sciences, Prince of Wales Hospital, High Street, Randwick, Sydney, NSW 2031, Australia.

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http://dx.doi.org/10.1002/mus.20115DOI Listing
November 2004

A polymorphism in the poliovirus receptor gene differs in motor neuron disease.

Neuroreport 2004 Feb;15(2):383-6

Department of Pathology, D06, Central Clinical School, University of Sydney, New South Wales 2006, Australia.

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http://dx.doi.org/10.1097/00001756-200402090-00034DOI Listing
February 2004

Magnesium supplementation does not delay disease onset or increase survival in a mouse model of familial ALS.

J Neurol Sci 2003 Dec;216(1):95-8

Department of Pathology D06, The University of Sydney, New South Wales 2006, Sydney, Australia.

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http://dx.doi.org/10.1016/s0022-510x(03)00216-8DOI Listing
December 2003

Is quantitation necessary for assessment of sural nerve biopsies?

Muscle Nerve 2003 May;27(5):562-9

Department of Pathology D06 (Neuropathology Division), University of Sydney, Sydney, New South Wales 2006, Australia.

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http://dx.doi.org/10.1002/mus.10363DOI Listing
May 2003

Zinc in the spinal cord of a mutant SOD1 mouse model of ALS.

Neuroreport 2003 Mar;14(4):547-9

Neuropathology Division, Department of Pathology D06, University of Sydney, NSW 2006, Australia.

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http://dx.doi.org/10.1097/00001756-200303240-00003DOI Listing
March 2003

Mutations in the VEGF promoter and ALS in airline pilots: a link?

Authors:
Roger Pamphlett

J Occup Environ Med 2002 Nov;44(11):987

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http://dx.doi.org/10.1097/00043764-200211000-00001DOI Listing
November 2002