Garth Nicholson

Garth Nicholson

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Garth Nicholson

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Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNF familial amyotrophic lateral sclerosis patient using mRNA reprogramming.

Stem Cell Res 2019 Oct 14;40:101530. Epub 2019 Aug 14.

Illawarra Health and Medical Research Institute, Wollongong, NSW 2522, Australia; School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, NSW 2522, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101530DOI Listing
October 2019

Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias.

J Peripher Nerv Syst 2019 Jun 4;24(2):224-229. Epub 2019 Apr 4.

Department of Neurology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jns.12315DOI Listing
June 2019

Body composition and its association with physical performance, quality of life, and clinical indictors in Charcot-Marie-Tooth disease: a pilot study.

Disabil Rehabil 2019 02 2;41(4):405-412. Epub 2017 Nov 2.

a Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences , The University of Sydney , Lidcombe , NSW , Australia.

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http://dx.doi.org/10.1080/09638288.2017.1395083DOI Listing
February 2019

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease.

Biol Open 2018 Oct 16;7(10). Epub 2018 Oct 16.

Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia

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http://dx.doi.org/10.1242/bio.036475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215410PMC
October 2018

A novel Parkinson's disease risk variant, p. W378R, in the Gaucher's disease GBA gene.

Mov Disord 2018 10 14;33(10):1662-1664. Epub 2018 Sep 14.

ANZAC Research Institute, Concord Hospital, Concord, NSW, Sydney, Australia and the University Sydney, Concord Clinical School, Concord Repatriation General Hospital, NSW, Australia.

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http://dx.doi.org/10.1002/mds.106DOI Listing
October 2018

A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.

Brain 2018 09;141(9):e66

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

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http://dx.doi.org/10.1093/brain/awy184DOI Listing
September 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

Infantile-Onset Myelin Protein Zero-Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia.

Semin Pediatr Neurol 2018 07 1;26:52-55. Epub 2017 Apr 1.

Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.005DOI Listing
July 2018

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.

Mol Genet Genomic Med 2018 05 23;6(3):422-433. Epub 2018 Mar 23.

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

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http://dx.doi.org/10.1002/mgg3.390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014456PMC
May 2018

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.

Neurology 2018 05 6;90(19):e1706-e1710. Epub 2018 Apr 6.

From the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.

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http://dx.doi.org/10.1212/WNL.0000000000005479DOI Listing
May 2018

Sarcolemmal excitability in the myotonic dystrophies.

Muscle Nerve 2018 04 30;57(4):595-602. Epub 2017 Sep 30.

Department of Neurology and Neurophysiology, Royal North Shore Hospital, Reserve Road, St Leonards, New South Wales, Australia.

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http://dx.doi.org/10.1002/mus.25962DOI Listing
April 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

Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of Autophagy.

J Neurosci 2017 08 7;37(32):7782-7794. Epub 2017 Jul 7.

Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia,

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http://dx.doi.org/10.1523/JNEUROSCI.1142-17.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6596655PMC
August 2017

A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.

Amyotroph Lateral Scler Frontotemporal Degener 2017 Feb 18;18(1-2):126-133. Epub 2016 Aug 18.

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

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http://dx.doi.org/10.1080/21678421.2016.1218517DOI Listing
February 2017

A Tol2 Gateway-Compatible Toolbox for the Study of the Nervous System and Neurodegenerative Disease.

Zebrafish 2017 02 15;14(1):69-72. Epub 2016 Sep 15.

1 Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University , Sydney, Australia .

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http://dx.doi.org/10.1089/zeb.2016.1321DOI Listing
February 2017

Relationship between physical performance and quality of life in Charcot-Marie-Tooth disease: a pilot study.

J Peripher Nerv Syst 2016 12;21(4):357-364

Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, Australia.

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http://dx.doi.org/10.1111/jns.12191DOI Listing
December 2016

A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.

Hum Genet 2016 Nov 3;135(11):1269-1278. Epub 2016 Aug 3.

Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, Sydney, 2139, Australia.

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http://dx.doi.org/10.1007/s00439-016-1720-4DOI Listing
November 2016

Motor cortical dysfunction develops in spinocerebellar ataxia type 3.

Clin Neurophysiol 2016 Nov 15;127(11):3418-3424. Epub 2016 Sep 15.

Sydney Medical School, Brain & Mind Centre, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.clinph.2016.09.005DOI Listing
November 2016

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.

Neurobiol Dis 2016 Oct 5;94:237-44. Epub 2016 Jul 5.

Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.07.001DOI Listing
October 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Nat Genet 2016 09 25;48(9):1037-42. Epub 2016 Jul 25.

Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560030PMC
September 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

Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.

Neurology 2016 Jul 8;87(1):65-70. Epub 2016 Jun 8.

From the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000002813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932233PMC
July 2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Nat Commun 2016 Apr 15;7:11253. Epub 2016 Apr 15.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.

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http://dx.doi.org/10.1038/ncomms11253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835537PMC
April 2016

Genetic basis of hindlimb loss in a naturally occurring vertebrate model.

Biol Open 2016 Feb 18;5(3):359-66. Epub 2016 Feb 18.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia Department of Anatomy & Histology, School of Medical Sciences and Bosch Institute, University of Sydney, Sydney, New South Wales 2006, Australia

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http://dx.doi.org/10.1242/bio.016295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810746PMC
February 2016

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

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.2015.08.013DOI Listing
December 2015

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

JAMA Neurol 2015 Dec;72(12):1424-32

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia2Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales.

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http://dx.doi.org/10.1001/jamaneurol.2015.2274DOI Listing
December 2015

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

Hum Mol Genet 2015 Sep 17;24(18):5109-14. Epub 2015 Jun 17.

ANZAC Research Institute, University of Sydney, Concord Hospital, New South Wales, Australia.

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http://dx.doi.org/10.1093/hmg/ddv229DOI Listing
September 2015

The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family.

J Neurodegener Dis 2013 28;2013:495873. Epub 2012 Nov 28.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW 2139, Australia ; Sydney Medical School, University of Sydney, Sydney, NSW 2008, Australia ; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.

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http://dx.doi.org/10.1155/2013/495873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4437342PMC
August 2015

Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features.

Neurotox Res 2015 Aug 27;28(2):138-46. Epub 2015 May 27.

Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, 2109, Australia.

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http://dx.doi.org/10.1007/s12640-015-9532-1DOI Listing
August 2015

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Brain 2015 Aug 29;138(Pt 8):2191-205. Epub 2015 May 29.

1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France 4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France 6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France 9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France

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http://dx.doi.org/10.1093/brain/awv143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553756PMC
August 2015

Mutant human FUS Is ubiquitously mislocalized and generates persistent stress granules in primary cultured transgenic zebrafish cells.

PLoS One 2014 9;9(6):e90572. Epub 2014 Jun 9.

The Bosch Institute, University of Sydney, Sydney, New South Wales, Australia; Discipline of Anatomy and Histology, University of Sydney, Sydney, New South Wales, Australia; Motorneurone Disease Research Centre, Australian School of Advanced Medicine, Macquarie University, Sydney, New South Wales, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0090572PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049593PMC
June 2015

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

Neurobiol Aging 2015 Mar 20;36(3):1602.e1-2. Epub 2014 Nov 20.

Australian School of Advanced Medicine, Faculty of Medicine & Health Sciences, Macquarie University, Sydney, New South Wales, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.11.010DOI Listing
March 2015

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

Mol Genet Genomic Med 2015 Mar 14;3(2):143-54. Epub 2015 Jan 14.

Northcott Neuroscience Laboratory, ANZAC Research Institute Sydney, Australia ; Molecular Medicine Laboratory, Concord Hospital Sydney, Australia ; Sydney Medical School, University of Sydney Sydney, Australia.

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http://dx.doi.org/10.1002/mgg3.126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367087PMC
March 2015

Axonal ion channel dysfunction in c9orf72 familial amyotrophic lateral sclerosis.

JAMA Neurol 2015 Jan;72(1):49-57

Westmead Clinical School, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1001/jamaneurol.2014.2940DOI Listing
January 2015

Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.

Neurogenetics 2014 Oct 16;15(4):229-35. Epub 2014 Jul 16.

Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.

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http://dx.doi.org/10.1007/s10048-014-0414-0DOI Listing
October 2014

Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts.

DNA Cell Biol 2014 Jul 27;33(7):399-407. Epub 2014 Mar 27.

1 Neuro-Cell Biology Laboratory, School of Science & Health, University of Western Sydney , Campbelltown, NSW, Australia .

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http://dx.doi.org/10.1089/dna.2013.2182DOI Listing
July 2014

Axonal excitability in X-linked dominant Charcot Marie Tooth disease.

Clin Neurophysiol 2014 Jun 13;125(6):1261-9. Epub 2013 Nov 13.

Department of Neurology and Clinical Neurophysiology, Royal North Shore Hospital, NSW, Australia; Institute of Clinical Neurosciences, Royal Prince Alfred Hospital, NSW, Australia; The University of Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2013.11.004DOI Listing
June 2014

Apparent anticipation in SOD1 familial amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Sep 15;14(5-6):452-6. Epub 2013 Feb 15.

Sydney Medical School, Westmead, University of Sydney, Wentworthville, NSW 2145, Sydney, Australia.

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http://dx.doi.org/10.3109/21678421.2013.764569DOI Listing
September 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

Pathophysiological insights into ALS with C9ORF72 expansions.

J Neurol Neurosurg Psychiatry 2013 Aug 5;84(8):931-5. Epub 2013 Mar 5.

Australian School of Advanced Medicine, Macquarie University, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1136/jnnp-2012-304529DOI Listing
August 2013

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

Muscle Nerve 2013 Jun 29;47(6):922-4. Epub 2013 Mar 29.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Gate 3, Hospital Road, Concord, New South Wales, 2761, Australia.

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http://dx.doi.org/10.1002/mus.23743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5175269PMC
June 2013

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Oct 19;33(10):2527.e3-10. Epub 2012 Jun 19.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.05.008DOI Listing
October 2012

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

Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Jul 22;33(7):1488.e15-6. Epub 2011 Dec 22.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, 2139, Australia.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.11.022DOI Listing
July 2012

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Jan 19;33(1):210.e9-10. Epub 2011 Oct 19.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, 2139, Australia.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.09.023DOI Listing
January 2012

Biomarkers of disease in a case of familial lower motor neuron ALS.

Amyotroph Lateral Scler 2010 Oct;11(5):486-9

Department of Neurology, Royal Brisbane and Women's Hospital, Queensland, Australia.

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http://dx.doi.org/10.3109/17482961003774428DOI Listing
October 2010

TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases.

Int J Biochem Cell Biol 2010 Oct 25;42(10):1606-9. Epub 2010 Jun 25.

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

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http://dx.doi.org/10.1016/j.biocel.2010.06.016DOI Listing
October 2010

Fused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein.

Int J Biochem Cell Biol 2010 Sep 10;42(9):1408-11. Epub 2010 Jun 10.

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

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https://linkinghub.elsevier.com/retrieve/pii/S13572725100020
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http://dx.doi.org/10.1016/j.biocel.2010.06.003DOI Listing
September 2010

Correlation between muscle atrophy on MRI and manual strength testing in hereditary neuropathies.

J Clin Neurosci 2010 Jul;17(7):874-8

Department of Molecular Genetics, Concord Repatriation General Hospital, Concord, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.jocn.2009.11.006DOI Listing
July 2010

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis.

J Neurol Neurosurg Psychiatry 2010 Jun 3;81(6):639-45. Epub 2009 Dec 3.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord Hospital, Sydney, Australia.

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http://dx.doi.org/10.1136/jnnp.2009.194399DOI Listing
June 2010

Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes.

Adv Exp Med Biol 2009 ;652:201-6

University of Sydney at the ANZAC Research Institute, Concord Hospital, Sydney, 2139, NSW, Australia.

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http://dx.doi.org/10.1007/978-90-481-2813-6_13DOI Listing
April 2010

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

Clin Chem 2009 Jul 7;55(7):1415-8. Epub 2009 May 7.

Victorian Clinical Genetic Services and Murdoch Children's Research Institute, University of Melbourne, Department of Paediatrics, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1373/clinchem.2009.124958DOI Listing
July 2009

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.

Neurogenetics 2009 Apr 9;10(2):135-43. Epub 2009 Jan 9.

Department for Clinical Chemistry, University Hospital Zurich, Raemistrasse 100, 8051, Zürich, Switzerland.

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http://dx.doi.org/10.1007/s10048-008-0168-7DOI Listing
April 2009

Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.

J Neuropathol Exp Neurol 2008 Nov;67(11):1097-102

Laboratoire de Neurologie, Centre de Référence des Neuropathies Périphériques Rares, CHU de Limoges, Limoges, France.

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http://dx.doi.org/10.1097/NEN.0b013e31818b6cbcDOI Listing
November 2008

Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.

Neurogenetics 2008 Jul 6;9(3):191-5. Epub 2008 May 6.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia.

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http://dx.doi.org/10.1007/s10048-008-0126-4DOI Listing
July 2008

Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis.

Brain 2008 Jun 9;131(Pt 6):1540-50. Epub 2008 May 9.

Prince of Wales Medical Research Institute, University of New SouthWales, Sydney, NSW 2031, Australia.

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http://dx.doi.org/10.1093/brain/awn071DOI Listing
June 2008