Dominic B Rowe

Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics.

Cell Rep 2020 Oct;33(4):108323

Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, UK; King's College Hospital, Bessemer Road, London SE5 9RS, UK.

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http://dx.doi.org/10.1016/j.celrep.2020.108323	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7610013	PMC

October 2020

Identity by descent analysis identifies founder events and links familial and sporadic ALS cases.

Authors:

Lyndal Henden Natalie A Twine Piotr Szul Emily P McCann Garth A Nicholson Dominic B Rowe Matthew C Kiernan Denis C Bauer Ian P Blair Kelly L Williams

NPJ Genom Med 2020 7;5:32. Epub 2020 Aug 7.

Macquarie University Centre for Motor Neuron Disease Research, Department of Biological Sciences, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW Australia.

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http://dx.doi.org/10.1038/s41525-020-00139-8	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7414871	PMC

August 2020

Neuronal intranuclear inclusion disease is genetically heterogeneous.

Ann Clin Transl Neurol 2020 Aug 10. Epub 2020 Aug 10.

Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.

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http://dx.doi.org/10.1002/acn3.51151	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480908	PMC

August 2020

Metabolite Profiling Reveals Predictive Biomarkers and the Absence of β-Methyl Amino-l-alanine in Plasma from Individuals Diagnosed with Amyotrophic Lateral Sclerosis.

Authors:

Michael S Bereman Kaylie I Kirkwood Tharani Sabaretnam Sarah Furlong Dominic B Rowe Gilles J Guillemin Allyson L Mellinger David C Muddiman

J Proteome Res 2020 08 2;19(8):3276-3285. Epub 2020 Jun 2.

Department of Chemistry, North Carolina State University, Raleigh, North Carolina 27695, United States.

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http://dx.doi.org/10.1021/acs.jproteome.0c00216	DOI Listing

August 2020

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.

Authors:

Emily P McCann Lyndal Henden Jennifer A Fifita Katharine Y Zhang Natalie Grima Denis C Bauer Sandrine Chan Moi Fat Natalie A Twine Roger Pamphlett Matthew C Kiernan Dominic B Rowe Kelly L Williams Ian P Blair

J Med Genet 2020 May 14. Epub 2020 May 14.

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia

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http://dx.doi.org/10.1136/jmedgenet-2020-106866	DOI Listing

May 2020

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis.

NPJ Genom Med 2020 27;5:10. Epub 2020 Feb 27.

1Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072 Australia.

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http://dx.doi.org/10.1038/s41525-020-0118-3	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7046630	PMC

February 2020

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

Parkinsonism Relat Disord 2019 12 7;69:111-118. Epub 2019 Nov 7.

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia; Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, New South Wales, 2065, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Camperdown, 2050, Australia; Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, 2065, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.11.004	DOI Listing

December 2019

CMS-01 Genetic testing for familial amyotrophic lateral sclerosis (ALS): insights and challenges.

Authors:

Ashley Crook Anne Hogden Virginia Mumford Ian P Blair Kelly L Williams Dominic B Rowe

Amyotroph Lateral Scler Frontotemporal Degener 2019 Nov;20(sup1):327-347

Department of Clinical Medicine.

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http://dx.doi.org/10.1080/21678421.2019.1647002	DOI Listing

November 2019

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.

J Neurol Neurosurg Psychiatry 2020 02 5;91(2):162-171. Epub 2019 Nov 5.

Macquarie University Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1136/jnnp-2019-321790	DOI Listing

February 2020

Diffusion kurtosis and quantitative susceptibility mapping MRI are sensitive to structural abnormalities in amyotrophic lateral sclerosis.

Authors:

Thomas Welton Jerome J Maller R Marc Lebel Ek T Tan Dominic B Rowe Stuart M Grieve

Neuroimage Clin 2019 22;24:101953. Epub 2019 Jul 22.

Sydney Translational Imaging Laboratory, Heart Research Institute, Charles Perkins Centre, University of Sydney, Australia; Macquarie University Hospital, Macquarie, Australia; Department of Radiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nicl.2019.101953	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6664242	PMC

September 2020

Safety and tolerability of Triumeq in amyotrophic lateral sclerosis: the Lighthouse trial.

Authors:

Julian Gold Dominic B Rowe Matthew C Kiernan Steve Vucic Susan Mathers Ruben P A van Eijk Avindra Nath Marta Garcia Montojo Gina Norato Ulisses A Santamaria Mary-Louise Rogers Andrea Malaspina Vittoria Lombardi Puja R Mehta Henk-Jan Westeneng Leonard H van den Berg Ammar Al-Chalabi

Amyotroph Lateral Scler Frontotemporal Degener 2019 11 8;20(7-8):595-604. Epub 2019 Jul 8.

King's College London, Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience , London , United Kingdom.

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http://dx.doi.org/10.1080/21678421.2019.1632899	DOI Listing

November 2019

Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression.

Authors:

Ingrid S Tarr Emily P McCann Beben Benyamin Timothy J Peters Natalie A Twine Katharine Y Zhang Qiongyi Zhao Zong-Hong Zhang Dominic B Rowe Garth A Nicholson Denis Bauer Susan J Clark Ian P Blair Kelly L Williams

Sci Rep 2019 06 4;9(1):8254. Epub 2019 Jun 4.

Centre for Motor Neuron Disease Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/s41598-019-44765-4	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547746	PMC

June 2019

Limitations of Electromyography in the Assessment of Abdominal Wall Muscle Contractility Following Botulinum Toxin A Injection.

Authors:

Rodrigo Tomazini Martins Kristen E Elstner Christian Skulina Omar Rodriguez-Acevedo John W Read Dominic B Rowe Nabeel Ibrahim

Front Surg 2019 9;6:16. Epub 2019 Apr 9.

Hernia Institute Australia, Sydney, NSW, Australia.

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http://dx.doi.org/10.3389/fsurg.2019.00016	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465327	PMC

April 2019

The hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling.

Authors:

Ashley Crook Alison McEwen Jennifer A Fifita Katharine Zhang John B Kwok Glenda Halliday Ian P Blair Dominic B Rowe

Amyotroph Lateral Scler Frontotemporal Degener 2019 08 23;20(5-6):310-316. Epub 2019 Mar 23.

a Department of Clinical Medicine, Faculty of Medicine and Health Sciences , Macquarie University , Sydney , Australia.

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http://dx.doi.org/10.1080/21678421.2019.1588904	DOI Listing

August 2019

Inflammasome inhibition prevents α-synuclein pathology and dopaminergic neurodegeneration in mice.

Authors:

Richard Gordon Eduardo A Albornoz Daniel C Christie Monica R Langley Vinod Kumar Susanna Mantovani Avril A B Robertson Mark S Butler Dominic B Rowe Luke A O'Neill Anumantha G Kanthasamy Kate Schroder Matthew A Cooper Trent M Woodruff

Sci Transl Med 2018 10;10(465)

School of Biomedical Sciences, Faculty of Medicine, University of Queensland, St Lucia, Queensland 4072, Australia.

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http://stm.sciencemag.org/lookup/doi/10.1126/scitranslmed.aa	Publisher Site
http://dx.doi.org/10.1126/scitranslmed.aah4066	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483075	PMC

October 2018

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

Authors:

Beben Benyamin Ji He Qiongyi Zhao Jacob Gratten Fleur Garton Paul J Leo Zhijun Liu Marie Mangelsdorf Ammar Al-Chalabi Lisa Anderson Timothy J Butler Lu Chen Xiang-Ding Chen Katie Cremin Hong-Weng Deng Matthew Devine Janette Edson Jennifer A Fifita Sarah Furlong Ying-Ying Han Jessica Harris Anjali K Henders Rosalind L Jeffree Zi-Bing Jin Zhongshan Li Ting Li Mengmeng Li Yong Lin Xiaolu Liu Mhairi Marshall Emily P McCann Bryan J Mowry Shyuan T Ngo Roger Pamphlett Shu Ran David C Reutens Dominic B Rowe Perminder Sachdev Sonia Shah Sharon Song Li-Jun Tan Lu Tang Leonard H van den Berg Wouter van Rheenen Jan H Veldink Robyn H Wallace Lawrie Wheeler Kelly L Williams Jinyu Wu Xin Wu Jian Yang Weihua Yue Zong-Hong Zhang Dai Zhang Peter G Noakes Ian P Blair Robert D Henderson Pamela A McCombe Peter M Visscher Huji Xu Perry F Bartlett Matthew A Brown Naomi R Wray Dongsheng Fan

Nat Commun 2017 09 20;8(1):611. Epub 2017 Sep 20.

Department of Neurology, Peking University, Third Hospital, No. 49, North Garden Road, Haidian District, 100191, Beijing, China.

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http://dx.doi.org/10.1038/s41467-017-00471-1	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606989	PMC

September 2017

Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations.

Authors:

Ashley Crook Kelly Williams Lorel Adams Ian Blair Dominic B Rowe

Amyotroph Lateral Scler Frontotemporal Degener 2017 11 6;18(7-8):475-485. Epub 2017 Jun 6.

a Department of Clinical Medicine, Faculty of Medicine and Health Sciences , Macquarie University , Sydney , New South Wales , Australia and.

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http://dx.doi.org/10.1080/21678421.2017.1332079	DOI Listing

November 2017

Motor neuron disease mortality and lifetime petrol lead exposure: Evidence from national age-specific and state-level age-standardized death rates in Australia.

Authors:

Sammy Zahran Mark A S Laidlaw Dominic B Rowe Andrew S Ball Howard W Mielke

Environ Res 2017 Feb 18;153:181-190. Epub 2016 Dec 18.

Department of Pharmacology, Tulane University School of Medicine, 1430 Tulane Avenue, New Orleans, LA 70112, USA. Electronic address:

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http://dx.doi.org/10.1016/j.envres.2016.11.023	DOI Listing

February 2017

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.3622	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360	PMC

September 2016

Involvement of quinolinic acid in the neuropathogenesis of amyotrophic lateral sclerosis.

Authors:

Jong-Min Lee Vanessa Tan David Lovejoy Nady Braidy Dominic B Rowe Bruce J Brew Gilles J Guillemin

Neuropharmacology 2017 Jan 3;112(Pt B):346-364. Epub 2016 Jun 3.

Macquarie University, Faculty of Medicine and Health Sciences, Department of Biomedical Sciences, Sydney, Australia; Peter Duncan, Neurosciences Unit, St Vincent's Centre for Applied Medical Research, Sydney, Australia.

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http://dx.doi.org/10.1016/j.neuropharm.2016.05.011	DOI Listing

January 2017

Increased peripheral inflammation in asymptomatic leucine-rich repeat kinase 2 mutation carriers.

Authors:

Nicolas Dzamko Dominic B Rowe Glenda M Halliday

Mov Disord 2016 06 25;31(6):889-97. Epub 2016 Feb 25.

School of Medical Sciences, University of NSW, Kensington, Australia.

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http://dx.doi.org/10.1002/mds.26529	DOI Listing

June 2016

A Temporal Association between Accumulated Petrol (Gasoline) Lead Emissions and Motor Neuron Disease in Australia.

Authors:

Mark A S Laidlaw Dominic B Rowe Andrew S Ball Howard W Mielke

Int J Environ Res Public Health 2015 Dec 19;12(12):16124-35. Epub 2015 Dec 19.

Department of Pharmacology, Tulane University School of Medicine, 1430 Tulane Avenue, New Orleans, Louisiana, LA 70112, USA.

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http://www.mdpi.com/1660-4601/12/12/15047	Publisher Site
http://dx.doi.org/10.3390/ijerph121215047	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4690983	PMC

December 2015

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

Authors:

Kelly L Williams Emily P McCann Jennifer A Fifita Katharine Zhang Emma L Duncan Paul J Leo Mhairi Marshall Dominic B Rowe Garth A Nicholson Ian P Blair

Neurobiol Aging 2015 Dec 18;36(12):3334.e1-3334.e5. Epub 2015 Aug 18.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.08.013	DOI Listing

December 2015

Measurement of LRRK2 and Ser910/935 phosphorylated LRRK2 in peripheral blood mononuclear cells from idiopathic Parkinson's disease patients.

Authors:

Nicolas Dzamko Germaine Chua Madelaine Ranola Dominic B Rowe Glenda M Halliday

J Parkinsons Dis 2013 ;3(2):145-52

School of Medical Sciences, University of NSW and Neuroscience Research Australia, Sydney, Australia.

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http://dx.doi.org/10.3233/JPD-130174	DOI Listing

June 2014

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

Authors:

Ainhi D Ha Kaitlyn L Parratt Nanna D Rendtorff Marianne Lodahl Karl Ng Dominic B Rowe Carolyn M Sue Michael W Hayes Lisbeth Tranebjaerg Victor S C Fung

Mov Disord 2012 Jul 26;27(8):1034-40. Epub 2012 Jun 26.

Movement Disorders Unit, Department of Neurology, Westmead Hospital, Sydney, NSW 2145, Australia.

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http://dx.doi.org/10.1002/mds.25033	DOI Listing

July 2012

Interaction between α-synuclein and tau genotypes and the progression of Parkinson's disease.

Authors:

Yue Huang Dominic B Rowe Glenda M Halliday

J Parkinsons Dis 2011 ;1(3):271-6

Neuroscience Research Australia and The University of New South Wales, Sydney, Australia.

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http://dx.doi.org/10.3233/JPD-2011-11027	DOI Listing

July 2014

Corticomotoneuronal function in asymptomatic SOD-1 mutation carriers.

Authors:

Steve Vucic Jennica M C Winhammar Dominic B Rowe Matthew C Kiernan

Clin Neurophysiol 2010 Oct 1;121(10):1781-5. Epub 2010 Apr 1.

Department of Neurology, Westmead Hospital, Western Clinical School, University of Sydney, Australia.

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http://dx.doi.org/10.1016/j.clinph.2010.02.164	DOI Listing

October 2010

Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease?

Authors:

Greg T Sutherland Glenda M Halliday Peter A Silburn Frank L Mastaglia Dominic B Rowe Richard S Boyle John D O'Sullivan Tina Ly Steve D Wilton George D Mellick

Mov Disord 2009 Apr;24(6):833-8

Eskitis Institute for Cell and Molecular Therapies, School of Biomolecular and Physical Sciences, Griffith University, Brisbane, Queensland, Australia.

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