Garth A Nicholson

Garth A Nicholson

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Garth A Nicholson

Publications by authors named "Garth A Nicholson"

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

Authors:
Emily P McCann Jennifer A Fifita Natalie Grima Jasmin Galper Prachi Mehta Sarah E Freckleton Katharine Y Zhang Lyndal Henden Alison L Hogan Sandrine Chan Moi Fat Sharlynn Sl Wu Cyril J Jagaraj Britt A Berning Kelly Louise Williams Natalie A Twine Denis Bauer Olivier Piguet John Hodges John B J Kwok Glenda M Halliday Matthew C Kiernan Julie Atkin Dominic B Rowe Garth A Nicholson Adam K Walker Ian P Blair Shu Yang

J Neurol Neurosurg Psychiatry 2020 Feb 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-2019-321790DOI Listing
February 2020

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).

Authors:
Bianca R Grosz Natasha B Golovchenko Melina Ellis Kishore Kumar Garth A Nicholson Anthony Antonellis Marina L Kennerson

Sci Rep 2019 Dec 18;9(1):19336. Epub 2019 Dec 18.

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

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http://dx.doi.org/10.1038/s41598-019-55875-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6920433PMC
December 2019

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.

Authors:
Shelisa Tey Nortina Shahrizaila Alexander P Drew Sarimah Samulong Khean-Jin Goh Esra Battaloglu Derek Atkinson Yesim Parman Albena Jordanova Ki Wha Chung Byung-Ok Choi Yi-Chung Li Michaela Auer-Grumbach Garth A Nicholson Marina L Kennerson Azlina Ahmad-Annuar

Neurogenetics 2019 Aug 22;20(3):117-127. Epub 2019 Apr 22.

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

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http://dx.doi.org/10.1007/s10048-019-00576-3DOI Listing
August 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 Jun 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/s41598-019-44765-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547746PMC
June 2019

Motor Neuron Abnormalities Correlate with Impaired Movement in Zebrafish that Express Mutant Superoxide Dismutase 1.

Authors:
Katherine J Robinson Kristy C Yuan Emily K Don Alison L Hogan Claire G Winnick Madelaine C Tym Caitlin W Lucas Hamideh Shahheydari Maxinne Watchon Ian P Blair Julie D Atkin Garth A Nicholson Nicholas J Cole Angela S Laird

Zebrafish 2019 02 27;16(1):8-14. Epub 2018 Oct 27.

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

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https://www.liebertpub.com/doi/10.1089/zeb.2018.1588
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http://dx.doi.org/10.1089/zeb.2018.1588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357263PMC
February 2019

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.

Authors:
Alison L Hogan Emily K Don Stephanie L Rayner Albert Lee Angela S Laird Maxinne Watchon Claire Winnick Ingrid S Tarr Marco Morsch Jennifer A Fifita Serene S L Gwee Isabel Formella Elinor Hortle Kristy C Yuan Mark P Molloy Kelly L Williams Garth A Nicholson Roger S Chung Ian P Blair Nicholas J Cole

Hum Mol Genet 2019 02;28(4):698

Department of Biomedical Sciences, Faculty of Medicine & Health Sciences, Macquarie University, North Ryde, NSW, Australia.

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http://dx.doi.org/10.1093/hmg/ddy362DOI Listing
February 2019

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease.

Authors:
Jamie R Acosta Maxinne Watchon Kristy C Yuan Jennifer A Fifita Adam J Svahn Emily K Don Claire G Winnick Ian P Blair Garth A Nicholson Nicholas J Cole Claire Goldsbury Angela S Laird

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

Authors:
Marina L Kennerson Alastair C Corbett Melina Ellis Gonzalo Perez-Siles Garth A Nicholson

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.

Authors:
Jennifer A Fifita Katharine Y Zhang Jasmin Galper Kelly L Williams Emily P McCann Alison L Hogan Neil Saunders Denis Bauer Ingrid S Tarr Roger Pamphlett Garth A Nicholson Dominic Rowe Shu Yang Ian P Blair

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.

Authors:
Eppie M Yiu Jithangi Wanigasinghe Mark T Mackay Michael Gonzales Garth A Nicholson Monique M Ryan

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.

Authors:
Anthony N Cutrupi Megan H Brewer Garth A Nicholson Marina L Kennerson

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.

Authors:
Manoj Kanhangad Kayla Cornett Megan H Brewer Garth A Nicholson Monique M Ryan Robert L Smith Gopinath M Subramanian Helen K Young Stephan Züchner Marina L Kennerson Joshua Burns Manoj P Menezes

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

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.

Authors:
Maxinne Watchon Kristy C Yuan Nick Mackovski Adam J Svahn Nicholas J Cole Claire Goldsbury Silke Rinkwitz Thomas S Becker Garth A Nicholson Angela S Laird

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

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.

Authors:
Alison L Hogan Emily K Don Stephanie L Rayner Albert Lee Angela S Laird Maxinne Watchon Claire Winnick Ingrid S Tarr Marco Morsch Jennifer A Fifita Serene S L Gwee Isabel Formella Elinor Hortle Kristy C Yuan Mark P Molloy Kelly L Williams Garth A Nicholson Roger S Chung Ian P Blair Nicholas J Cole

Hum Mol Genet 2017 07;26(14):2616-2626

Department of Biomedical Sciences, Faculty of Medicine & Health Sciences, Macquarie University, North Ryde, NSW 2109, Australia.

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http://dx.doi.org/10.1093/hmg/ddx136DOI Listing
July 2017

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.

Authors:
Pei-Chien Tsai Bing-Wen Soong Inès Mademan Yen-Hua Huang Chia-Rung Liu Cheng-Tsung Hsiao Hung-Ta Wu Tze-Tze Liu Yo-Tsen Liu Yen-Ting Tseng Kon-Ping Lin Ueng-Cheng Yang Ki Wha Chung Byung-Ok Choi Garth A Nicholson Marina L Kennerson Chih-Chiang Chan Peter De Jonghe Tzu-Hao Cheng Yi-Chu Liao Stephan Züchner Jonathan Baets Yi-Chung Lee

Brain 2017 May;140(5):1252-1266

Department of Neurology, Taipei Veterans General Hospital, Taipei 11217, Taiwan.

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http://dx.doi.org/10.1093/brain/awx058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6248622PMC
May 2017

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development.

Authors:
Swapna Thomas-Jinu Patricia M Gordon Triona Fielding Richard Taylor Bradley N Smith Victoria Snowden Eric Blanc Caroline Vance Simon Topp Chun-Hao Wong Holger Bielen Kelly L Williams Emily P McCann Garth A Nicholson Alejandro Pan-Vazquez Archa H Fox Charles S Bond William S Talbot Ian P Blair Christopher E Shaw Corinne Houart

Neuron 2017 05;94(4):931

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http://dx.doi.org/10.1016/j.neuron.2017.04.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441113PMC
May 2017

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development.

Authors:
Swapna Thomas-Jinu Patricia M Gordon Triona Fielding Richard Taylor Bradley N Smith Victoria Snowden Eric Blanc Caroline Vance Simon Topp Chun-Hao Wong Holger Bielen Kelly L Williams Emily P McCann Garth A Nicholson Alejandro Pan-Vazquez Archa H Fox Charles S Bond William S Talbot Ian P Blair Christopher E Shaw Corinne Houart

Neuron 2017 Apr 6;94(2):322-336.e5. Epub 2017 Apr 6.

Centre for Developmental Neurobiology and MRC CNDD, IoPPN, Guy's Campus, King's College London, London SE1 1UL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2017.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405110PMC
April 2017

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

Authors:
Jennifer A Fifita Kelly L Williams Vinod Sundaramoorthy Emily P Mccann Garth A Nicholson Julie D Atkin Ian P Blair

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

Authors:
Alexander P Drew Anthony N Cutrupi Megan H Brewer Garth A Nicholson Marina L Kennerson

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

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

Authors:
Gonzalo Perez-Siles Carolyn Ly Adrienne Grant Alexander P Drew Eppie M Yiu Monique M Ryan David T Chuang Shih-Chia Tso Garth A Nicholson Marina L Kennerson

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

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).

Authors:
Gonzalo Perez-Siles Adrienne Grant Melina Ellis Carolyn Ly Aditi Kidambi Mamdouh Khalil Roxana M Llanos Sharon La Fontaine Alleene V Strickland Stephan Züchner Sandra Bermeo Elysia Neist Tara C Brennan-Speranza Reinaldo I Takata Carlos E Speck-Martins Julian F B Mercer Garth A Nicholson Marina L Kennerson

Metallomics 2016 09 13;8(9):981-92. Epub 2016 Jun 13.

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

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http://dx.doi.org/10.1039/c6mt00082gDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586149PMC
September 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Authors:
Kevin P Kenna Perry T C van Doormaal Annelot M Dekker Nicola Ticozzi Brendan J Kenna Frank P Diekstra Wouter van Rheenen Kristel R van Eijk Ashley R Jones Pamela Keagle Aleksey Shatunov William Sproviero Bradley N Smith Michael A van Es Simon D Topp Aoife Kenna Jack W Miller Claudia Fallini Cinzia Tiloca Russell L McLaughlin Caroline Vance Claire Troakes Claudia Colombrita Gabriele Mora Andrea Calvo Federico Verde Safa Al-Sarraj Andrew King Daniela Calini Jacqueline de Belleroche Frank Baas Anneke J van der Kooi Marianne de Visser Anneloor L M A Ten Asbroek Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress José Luis Muñoz-Blanco Tim M Strom Thomas Meitinger Karen E Morrison Giuseppe Lauria Kelly L Williams P Nigel Leigh Garth A Nicholson Ian P Blair Claire S Leblond Patrick A Dion Guy A Rouleau Hardev Pall Pamela J Shaw Martin R Turner Kevin Talbot Franco Taroni Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Jesús Esteban-Pérez Alberto García-Redondo Phillip Van Damme Wim Robberecht Adriano Chio Cinzia Gellera Carsten Drepper Michael Sendtner Antonia Ratti Jonathan D Glass Jesús S Mora Nazli A Basak Orla Hardiman Albert C Ludolph Peter M Andersen Jochen H Weishaupt Robert H Brown Ammar Al-Chalabi Vincenzo Silani Christopher E Shaw Leonard H van den Berg Jan H Veldink John E Landers

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

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

Authors:
Megan H Brewer Rabia Chaudhry Jessica Qi Aditi Kidambi Alexander P Drew Manoj P Menezes Monique M Ryan Michelle A Farrar David Mowat Gopinath M Subramanian Helen K Young Stephan Zuchner Stephen W Reddel Garth A Nicholson Marina L Kennerson

PLoS Genet 2016 07 20;12(7):e1006177. Epub 2016 Jul 20.

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

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http://dx.doi.org/10.1371/journal.pgen.1006177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4954712PMC
July 2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Authors:
Kelly L Williams Simon Topp Shu Yang Bradley Smith Jennifer A Fifita Sadaf T Warraich Katharine Y Zhang Natalie Farrawell Caroline Vance Xun Hu Alessandra Chesi Claire S Leblond Albert Lee Stephanie L Rayner Vinod Sundaramoorthy Carol Dobson-Stone Mark P Molloy Marka van Blitterswijk Dennis W Dickson Ronald C Petersen Neill R Graff-Radford Bradley F Boeve Melissa E Murray Cyril Pottier Emily Don Claire Winnick Emily P McCann Alison Hogan Hussein Daoud Annie Levert Patrick A Dion Jun Mitsui Hiroyuki Ishiura Yuji Takahashi Jun Goto Jason Kost Cinzia Gellera Athina Soragia Gkazi Jack Miller Joanne Stockton William S Brooks Karyn Boundy Meraida Polak José Luis Muñoz-Blanco Jesús Esteban-Pérez Alberto Rábano Orla Hardiman Karen E Morrison Nicola Ticozzi Vincenzo Silani Jacqueline de Belleroche Jonathan D Glass John B J Kwok Gilles J Guillemin Roger S Chung Shoji Tsuji Robert H Brown Alberto García-Redondo Rosa Rademakers John E Landers Aaron D Gitler Guy A Rouleau Nicholas J Cole Justin J Yerbury Julie D Atkin Christopher E Shaw Garth A Nicholson Ian P Blair

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

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

Authors:
Obaid M Albulym Marina L Kennerson Matthew B Harms Alexander P Drew Anna H Siddell Michaela Auer-Grumbach Alan Pestronk Anne Connolly Robert H Baloh Stephan Zuchner Stephen W Reddel Garth A Nicholson

Ann Neurol 2016 Mar 13;79(3):419-27. Epub 2016 Jan 13.

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

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http://dx.doi.org/10.1002/ana.24575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936275PMC
March 2016

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

Authors:
Emily K Don Tanya A de Jong-Curtain Karen Doggett Thomas E Hall Benjamin Heng Andrew P Badrock Claire Winnick Garth A Nicholson Gilles J Guillemin Peter D Currie Daniel Hesselson Joan K Heath Nicholas J Cole

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.

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.2015.08.013DOI Listing
December 2015

Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis.

Authors:
Nimeshan Geevasinga Parvathi Menon Garth A Nicholson Karl Ng James Howells Jillian J Kril Con Yiannikas Matthew C Kiernan Steve Vucic

JAMA Neurol 2015 Nov;72(11):1268-74

Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1001/jamaneurol.2015.1872DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707047PMC
November 2015

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

Authors:
Shu Yang Katharine Y Zhang Ruvini Kariawasam Monique Bax Jennifer A Fifita Lezanne Ooi Justin J Yerbury Garth A Nicholson Ian P Blair

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

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

Authors:
Jamie Rae Acosta Claire Goldsbury Claire Winnick Andrew P Badrock Stuart T Fraser Angela S Laird Thomas E Hall Emily K Don Jennifer A Fifita Ian P Blair Garth A Nicholson Nicholas J Cole

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://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049593PMC
June 2015

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

Authors:
Jennifer A Fifita Kelly L Williams Emily P McCann Aidan O'Brien Denis C Bauer Garth A Nicholson Ian P Blair

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.

Authors:
Alexander P Drew Danqing Zhu Aditi Kidambi Carolyn Ly Shelisa Tey Megan H Brewer Azlina Ahmad-Annuar Garth A Nicholson Marina L Kennerson

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.

Authors:
Nimeshan Geevasinga Parvathi Menon James Howells Garth A Nicholson Matthew C Kiernan Steve Vucic

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.

Authors:
Shelisa Tey Azlina Ahmad-Annuar Alexander P Drew Nortina Shahrizaila Garth A Nicholson Marina L Kennerson

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

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Authors:
Bradley N Smith Nicola Ticozzi Claudia Fallini Athina Soragia Gkazi Simon Topp Kevin P Kenna Emma L Scotter Jason Kost Pamela Keagle Jack W Miller Daniela Calini Caroline Vance Eric W Danielson Claire Troakes Cinzia Tiloca Safa Al-Sarraj Elizabeth A Lewis Andrew King Claudia Colombrita Viviana Pensato Barbara Castellotti Jacqueline de Belleroche Frank Baas Anneloor L M A ten Asbroek Peter C Sapp Diane McKenna-Yasek Russell L McLaughlin Meraida Polak Seneshaw Asress Jesús Esteban-Pérez José Luis Muñoz-Blanco Michael Simpson Wouter van Rheenen Frank P Diekstra Giuseppe Lauria Stefano Duga Stefania Corti Cristina Cereda Lucia Corrado Gianni Sorarù Karen E Morrison Kelly L Williams Garth A Nicholson Ian P Blair Patrick A Dion Claire S Leblond Guy A Rouleau Orla Hardiman Jan H Veldink Leonard H van den Berg Ammar Al-Chalabi Hardev Pall Pamela J Shaw Martin R Turner Kevin Talbot Franco Taroni Alberto García-Redondo Zheyang Wu Jonathan D Glass Cinzia Gellera Antonia Ratti Robert H Brown Vincenzo Silani Christopher E Shaw John E Landers

Neuron 2014 Oct 22;84(2):324-31. Epub 2014 Oct 22.

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.2014.09.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521390PMC
October 2014

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

Authors:
Simon J Myers Chandra S Malladi Ryan A Hyland Tara Bautista Ross Boadle Phillip J Robinson Garth A Nicholson

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.

Authors:
Christina Liang James Howells Marina Kennerson Garth A Nicholson David Burke Karl Ng

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

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

Authors:
Yuji Takahashi Yoko Fukuda Jun Yoshimura Atsushi Toyoda Kari Kurppa Hiroyoko Moritoyo Veronique V Belzil Patrick A Dion Koichiro Higasa Koichiro Doi Hiroyuki Ishiura Jun Mitsui Hidetoshi Date Budrul Ahsan Takashi Matsukawa Yaeko Ichikawa Takashi Moritoyo Mayumi Ikoma Tsukasa Hashimoto Fumiharu Kimura Shigeo Murayama Osamu Onodera Masatoyo Nishizawa Mari Yoshida Naoki Atsuta Gen Sobue Jennifer A Fifita Kelly L Williams Ian P Blair Garth A Nicholson Paloma Gonzalez-Perez Robert H Brown Masahiro Nomoto Klaus Elenius Guy A Rouleau Asao Fujiyama Shinichi Morishita Jun Goto Shoji Tsuji

Am J Hum Genet 2013 Nov 10;93(5):900-5. Epub 2013 Oct 10.

Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.

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http://dx.doi.org/10.1016/j.ajhg.2013.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824132PMC
November 2013

Apparent anticipation in SOD1 familial amyotrophic lateral sclerosis.

Authors:
Steve Vucic Garth A Nicholson Adriano Chio Matthew C Kiernan

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.

Authors:
Shu Yang Jennifer A Fifita Kelly L Williams Sadaf T Warraich Roger Pamphlett Garth A Nicholson Ian P Blair

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.

Authors:
Kelly L Williams Jennifer A Fifita Steve Vucic Jennifer C Durnall Matthew C Kiernan Ian P Blair Garth A Nicholson

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

Exome sequencing to identify de novo mutations in sporadic ALS trios.

Authors:
Alessandra Chesi Brett T Staahl Ana Jovičić Julien Couthouis Maria Fasolino Alya R Raphael Tomohiro Yamazaki Laura Elias Meraida Polak Crystal Kelly Kelly L Williams Jennifer A Fifita Nicholas J Maragakis Garth A Nicholson Oliver D King Robin Reed Gerald R Crabtree Ian P Blair Jonathan D Glass Aaron D Gitler

Nat Neurosci 2013 Jul 26;16(7):851-5. Epub 2013 May 26.

Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1038/nn.3412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3709464PMC
July 2013

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.

Authors:
Marina L Kennerson Eppie M Yiu David T Chuang Aditi Kidambi Shih-Chia Tso Carolyn Ly Rabia Chaudhry Alexander P Drew Gary Rance Martin B Delatycki Stephan Züchner Monique M Ryan Garth A Nicholson

Hum Mol Genet 2013 Apr 7;22(7):1404-16. Epub 2013 Jan 7.

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

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http://hmg.oxfordjournals.org/content/early/2013/01/17/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds557
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http://dx.doi.org/10.1093/hmg/dds557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3596851PMC
April 2013

DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.

Authors:
Christopher J Klein Tom Bird Nilufer Ertekin-Taner Sarah Lincoln Robert Hjorth Yanhong Wu John Kwok Georges Mer Peter J Dyck Garth A Nicholson

Neurology 2013 Feb 30;80(9):824-8. Epub 2013 Jan 30.

Department of Neurology, Division of Peripheral Nerve Diseases, Mayo Clinic, Rochester, MN, USA.

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http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e318284076
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http://dx.doi.org/10.1212/WNL.0b013e318284076dDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598458PMC
February 2013

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

Authors:
Kelly L Williams Sadaf T Warraich Shu Yang Jennifer A Solski Ruvini Fernando Guy A Rouleau Garth A Nicholson Ian P Blair

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.

Authors:
Jennifer A Solski Shu Yang Garth A Nicholson Natasha Luquin Kelly L Williams Ruvini Fernando Roger Pamphlett Ian P Blair

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

The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.

Authors:
Hiroyuki Ishiura Wataru Sako Mari Yoshida Toshitaka Kawarai Osamu Tanabe Jun Goto Yuji Takahashi Hidetoshi Date Jun Mitsui Budrul Ahsan Yaeko Ichikawa Atsushi Iwata Hiide Yoshino Yuishin Izumi Koji Fujita Kouji Maeda Satoshi Goto Hidetaka Koizumi Ryoma Morigaki Masako Ikemura Naoko Yamauchi Shigeo Murayama Garth A Nicholson Hidefumi Ito Gen Sobue Masanori Nakagawa Ryuji Kaji Shoji Tsuji

Am J Hum Genet 2012 Aug;91(2):320-9

Department of Neurology, The University of Tokyo Graduate School of Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.

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http://dx.doi.org/10.1016/j.ajhg.2012.07.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415534PMC
August 2012

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

Authors:
Kelly L Williams Jennifer A Solski Garth A Nicholson Ian P Blair

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

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.

Authors:
Julien Couthouis Michael P Hart Renske Erion Oliver D King Zamia Diaz Tadashi Nakaya Fadia Ibrahim Hyung-Jun Kim Jelena Mojsilovic-Petrovic Saarene Panossian Cecilia E Kim Edward C Frackelton Jennifer A Solski Kelly L Williams Dana Clay-Falcone Lauren Elman Leo McCluskey Robert Greene Hakon Hakonarson Robert G Kalb Virginia M Y Lee John Q Trojanowski Garth A Nicholson Ian P Blair Nancy M Bonini Vivianna M Van Deerlin Zissimos Mourelatos James Shorter Aaron D Gitler

Hum Mol Genet 2012 Jul 27;21(13):2899-911. Epub 2012 Mar 27.

Department of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1093/hmg/dds116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3373238PMC
July 2012

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.

Authors:
Sandra Martins Bing-Wen Soong Virginia C N Wong Paola Giunti Giovanni Stevanin Laura P W Ranum Hidenao Sasaki Olaf Riess Shoji Tsuji Paula Coutinho António Amorim Jorge Sequeiros Garth A Nicholson

Arch Neurol 2012 Jun;69(6):746-51

Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneurol.2011.2504DOI Listing
June 2012

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

Authors:
Jennifer A Solski Kelly L Williams Shu Yang Garth A Nicholson Ian P Blair

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

A yeast functional screen predicts new candidate ALS disease genes.

Authors:
Julien Couthouis Michael P Hart James Shorter Mariely DeJesus-Hernandez Renske Erion Rachel Oristano Annie X Liu Daniel Ramos Niti Jethava Divya Hosangadi James Epstein Ashley Chiang Zamia Diaz Tadashi Nakaya Fadia Ibrahim Hyung-Jun Kim Jennifer A Solski Kelly L Williams Jelena Mojsilovic-Petrovic Caroline Ingre Kevin Boylan Neill R Graff-Radford Dennis W Dickson Dana Clay-Falcone Lauren Elman Leo McCluskey Robert Greene Robert G Kalb Virginia M-Y Lee John Q Trojanowski Albert Ludolph Wim Robberecht Peter M Andersen Garth A Nicholson Ian P Blair Oliver D King Nancy M Bonini Vivianna Van Deerlin Rosa Rademakers Zissimos Mourelatos Aaron D Gitler

Proc Natl Acad Sci U S A 2011 Dec 7;108(52):20881-90. Epub 2011 Nov 7.

Departments of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1109434108
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3248518PMC
December 2011

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

Authors:
Jean-Baptiste Rivière Siriram Ramalingam Valérie Lavastre Masoud Shekarabi Sébastien Holbert Julie Lafontaine Myriam Srour Nancy Merner Daniel Rochefort Pascale Hince Rébecca Gaudet Anne-Marie Mes-Masson Jonathan Baets Henry Houlden Bernard Brais Garth A Nicholson Hilde Van Esch Shahriar Nafissi Peter De Jonghe Mary M Reilly Vincent Timmerman Patrick A Dion Guy A Rouleau

Am J Hum Genet 2011 Aug 4;89(2):219-30. Epub 2011 Aug 4.

Centre of Excellence in Neuromics, Montréal, Québec, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2011.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3155159PMC
August 2011

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.

Authors:
Christopher J Klein Maria-Victoria Botuyan Yanhong Wu Christopher J Ward Garth A Nicholson Simon Hammans Kaori Hojo Hiromitch Yamanishi Adam R Karpf Douglas C Wallace Mariella Simon Cecilie Lander Lisa A Boardman Julie M Cunningham Glenn E Smith William J Litchy Benjamin Boes Elizabeth J Atkinson Sumit Middha P James B Dyck Joseph E Parisi Georges Mer David I Smith Peter J Dyck

Nat Genet 2011 Jun 1;43(6):595-600. Epub 2011 May 1.

Mayo Clinic, Department of Neurology, Division of Peripheral Nerve Diseases, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1038/ng.830DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102765PMC
June 2011

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

Authors:
Fusun Baumann Stephen E Rose Garth A Nicholson Nicole Hutchinson Kerstin Pannek Anthony Pettitt Pamela A Mccombe Robert D Henderson

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.

Authors:
Sadaf T Warraich Shu Yang Garth A Nicholson Ian P Blair

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.

Authors:
Shu Yang Sadaf T Warraich Garth A Nicholson Ian P Blair

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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September 2010

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

Authors:
Lana A del Porto Garth A Nicholson Pon Ketheswaren

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.

Authors:
Ian P Blair Kelly L Williams Sadaf T Warraich Jennifer C Durnall Annora D Thoeng Jim Manavis Peter C Blumbergs Steve Vucic Matthew C Kiernan Garth A Nicholson

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

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

Authors:
Marina L Kennerson Garth A Nicholson Stephen G Kaler Bartosz Kowalski Julian F B Mercer Jingrong Tang Roxana M Llanos Shannon Chu Reinaldo I Takata Carlos E Speck-Martins Jonathan Baets Leonardo Almeida-Souza Dirk Fischer Vincent Timmerman Philip E Taylor Steven S Scherer Toby A Ferguson Thomas D Bird Peter De Jonghe Shawna M E Feely Michael E Shy James Y Garbern

Am J Hum Genet 2010 Mar 18;86(3):343-52. Epub 2010 Feb 18.

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

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http://dx.doi.org/10.1016/j.ajhg.2010.01.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2833394PMC
March 2010

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

Authors:
Devika Ganesamoorthy Damien L Bruno Jacqueline Schoumans Elsdon Storey Martin B Delatycki Danqing Zhu Morgan K Wei Garth A Nicholson R J McKinlay Gardner Howard R Slater

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

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

Authors:
Jean-Michel Vallat Robert A Ouvrier John D Pollard Corinne Magdelaine Danqing Zhu Garth A Nicholson Simon Grew Monique M Ryan Benoît Funalot

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

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

Authors:
Agnes A Luty John B J Kwok Elizabeth M Thompson Peter Blumbergs William S Brooks Clement T Loy Carol Dobson-Stone Peter K Panegyres Jane Hecker Garth A Nicholson Glenda M Halliday Peter R Schofield

BMC Neurol 2008 Aug 29;8:32. Epub 2008 Aug 29.

Prince of Wales Medical Research Institute, Sydney, NSW, Australia.

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http://bmcneurol.biomedcentral.com/articles/10.1186/1471-237
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http://dx.doi.org/10.1186/1471-2377-8-32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2553097PMC
August 2008

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

Authors:
Steve Vucic Garth A Nicholson Matthew C Kiernan

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

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

Authors:
Sandra Martins Francesc Calafell Claudia Gaspar Virginia C N Wong Isabel Silveira Garth A Nicholson Ewout R Brunt Lisbeth Tranebjaerg Giovanni Stevanin Mingli Hsieh Bing-Wen Soong Leal Loureiro Alexandra Dürr Shoji Tsuji Mitsunori Watanabe Laura B Jardim Paola Giunti Olaf Riess Laura P W Ranum Alexis Brice Guy A Rouleau Paula Coutinho António Amorim Jorge Sequeiros

Arch Neurol 2007 Oct;64(10):1502-8

Instituto de Patologia e Imunologia Molecular da Universidade do Porto and Faculdade de Ciências, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1001/archneur.64.10.1502DOI Listing
October 2007

Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.

Authors:
Jun Li Khaled Ghandour Danijela Radovanovic Danuijola Radovanovic Rosemary R Shy Karen M Krajewski Michael E Shy Garth A Nicholson

Arch Neurol 2007 Jul;64(7):974-8

Department of Neurology, Wayne State University, 4201 St Antoine St, UHC-8D, Detroit, MI 48201, USA.

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http://dx.doi.org/10.1001/archneur.64.7.974DOI Listing
July 2007

A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36.

Authors:
Sumana Gopinath Ian P Blair Marina L Kennerson Jennifer C Durnall Garth A Nicholson

Hum Genet 2007 Jun 13;121(5):559-64. Epub 2007 Mar 13.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord Hospital, and Faculty of Medicine, University of Sydney, NSW 2139, Australia.

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http://dx.doi.org/10.1007/s00439-007-0348-9DOI Listing
June 2007

Establishment of the Australasian paediatric Charcot-Marie-Tooth disease registry.

Authors:
Joshua Burns Robert A Ouvrier Garth A Nicholson Monique M Ryan

Neuromuscul Disord 2007 Apr 15;17(4):349-50. Epub 2007 Feb 15.

Institute for Neuromuscular Research, The Children's Hospital at Westmead/Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/j.nmd.2006.11.007DOI Listing
April 2007

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.

Authors:
Marina L Kennerson Trent Warburton Eva Nelis Megan Brewer Patsie Polly Peter De Jonghe Vincent Timmerman Garth A Nicholson

Clin Chem 2007 Feb 2;53(2):349-52. Epub 2007 Jan 2.

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

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http://dx.doi.org/10.1373/clinchem.2006.080010DOI Listing
February 2007

The dominantly inherited motor and sensory neuropathies: clinical and molecular advances.

Authors:
Garth A Nicholson

Muscle Nerve 2006 May;33(5):589-97

University of Sydney, Molecular Medicine Laboratory and Northcott Neurobiology Laboratory, ANZAC Research Institute, Clinical Sciences Building, Concord Hospital, NSW 2139, Australia.

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http://dx.doi.org/10.1002/mus.20477DOI Listing
May 2006

Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.

Authors:
Penelope J Spring Cindy Kok Garth A Nicholson Alvin J Ing Judith M Spies Mark L Bassett John Cameron Paul Kerlin Simon Bowler Roger Tuck John D Pollard

Brain 2005 Dec;128(Pt 12):2797-810

Institute of Clinical Neurosciences, Royal Prince Alfred Hospital and University of Sydney, Australia.

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http://dx.doi.org/10.1093/brain/awh653DOI Listing
December 2005

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

Authors:
Kumaraswamy Sivakumar Theodoros Kyriakides Imke Puls Garth A Nicholson Benoît Funalot Anthony Antonellis Nyamkhishig Sambuughin Kyproula Christodoulou John L Beggs Eleni Zamba-Papanicolaou Victor Ionasescu Marinos C Dalakas Eric D Green Kenneth H Fischbeck Lev G Goldfarb

Brain 2005 Oct 13;128(Pt 10):2304-14. Epub 2005 Jul 13.

Barrow Neurological Institute, Phoenix, AZ, USA.

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http://dx.doi.org/10.1093/brain/awh590DOI Listing
October 2005

Hypoxia causes aggregation of serine palmitoyltransferase followed by non-apoptotic death of human lymphocytes.

Authors:
Vadim N Dedov Irina V Dedova Garth A Nicholson

Cell Cycle 2004 Oct 12;3(10):1271-7. Epub 2004 Oct 12.

Neurobiology Laboratory, ANZAC Research Institute, Concord Repatriation General Hospital, Concord, Australia.

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http://dx.doi.org/10.4161/cc.3.10.1163DOI Listing
October 2004

Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes.

Authors:
Cindy Kok Marina L Kennerson Simon J Myers Garth A Nicholson

Neurogenetics 2004 Sep 6;5(3):197-200. Epub 2004 Jul 6.

Neurobiology Laboratory, ANZAC Research Institute, Hospital Road, Concord, New South Wales, Australia.

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http://dx.doi.org/10.1007/s10048-004-0185-0DOI Listing
September 2004

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

Authors:
Ying-Zhang Chen Craig L Bennett Huy M Huynh Ian P Blair Imke Puls Joy Irobi Ines Dierick Annette Abel Marina L Kennerson Bruce A Rabin Garth A Nicholson Michaela Auer-Grumbach Klaus Wagner Peter De Jonghe John W Griffin Kenneth H Fischbeck Vincent Timmerman David R Cornblath Phillip F Chance

Am J Hum Genet 2004 Jun 21;74(6):1128-35. Epub 2004 Apr 21.

Division of Genetics and Developmental Medicine, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1086/421054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182077PMC
June 2004

Equilibrium between cell division and apoptosis in immortal cells as an alternative to the G1 restriction mechanism in mammalian cells.

Authors:
Vadim N Dedov Irina V Dedova Garth A Nicholson

Cell Cycle 2004 Apr 1;3(4):491-5. Epub 2004 Apr 1.

ANZAC Research Institute, University of Sydney, Concord Hospital, Concord, Australia.

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April 2004

Activity of partially inhibited serine palmitoyltransferase is sufficient for normal sphingolipid metabolism and viability of HSN1 patient cells.

Authors:
Vadim N Dedov Irina V Dedova Alfred H Merrill Garth A Nicholson

Biochim Biophys Acta 2004 Mar;1688(2):168-75

Neurobiology Laboratory, ANZAC Research Institute, Concord Repatriation General Hospital, Hospital Road, Concord, NSW 2139, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S092544390300196
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http://dx.doi.org/10.1016/j.bbadis.2003.12.005DOI Listing
March 2004

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant.

Authors:
Melanie A Knight Marina L Kennerson Richard J Anney Tohru Matsuura Garth A Nicholson Peyman Salimi-Tari R J McKinlay Gardner Elsdon Storey Susan M Forrest

Neurobiol Dis 2003 Jul;13(2):147-57

Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia.

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http://dx.doi.org/10.1016/s0969-9961(03)00029-9DOI Listing
July 2003

Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review.

Authors:
Michaela Auer-Grumbach Peter De Jonghe Kristien Verhoeven Vincent Timmerman Klaus Wagner Hans-Peter Hartung Garth A Nicholson

Arch Neurol 2003 Mar;60(3):329-34

Institute of Medical Biology and Human Genetics, Karl-Franzens University Graz, Harrachgasse 21/8, A-8010 Graz, Austria.

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http://dx.doi.org/10.1001/archneur.60.3.329DOI Listing
March 2003

Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.

Authors:
Jennifer L Dawkins Sonal Brahmbhatt Michaela Auer-Grumbach Klaus Wagner Hans-Peter Hartung Kristien Verhoeven Vincent Timmerman Peter De Jonghe Marina Kennerson Eric LeGuern Garth A Nicholson

Neuromuscul Disord 2002 Oct;12(7-8):656-8

Neurobiology Laboratory, ANZAC Research Institute, University of Sydney, Concord Hospital, NSW 2139, Australia

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http://dx.doi.org/10.1016/s0960-8966(02)00015-9DOI Listing
October 2002

Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.

Authors:
Danqing Zhu Christopher Burke Anthony Leslie Garth A Nicholson

Mov Disord 2002 May;17(3):585-9

Neurobiology Department, ANZAC Research Institute, University of Sydney, Concord Hospital, Concord, NSW, Australia.

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http://dx.doi.org/10.1002/mds.10175DOI Listing
May 2002

Mutation Testing in Charcot-Marie-Tooth Neuropathy.

Authors:
Garth A Nicholson

Ann N Y Acad Sci 1999 Oct;883(1):383-388

University of Sydney, Molecular Genetics Laboratory, Clinical Sciences Building, Concord Hospital 2139, Sydney, NSW, Australia.

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http://dx.doi.org/10.1111/j.1749-6632.1999.tb08599.xDOI Listing
October 1999