Ian P Blair

Ian P Blair

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Theme 3 In vitro experimental models.

Amyotroph Lateral Scler Frontotemporal Degener 2019 Nov;20(sup1):135-159

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

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http://dx.doi.org/10.1080/21678421.2019.1646991DOI Listing
November 2019

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

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

Department of Clinical Medicine.

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http://dx.doi.org/10.1080/21678421.2019.1647002DOI Listing
November 2019

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

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

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

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

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http://dx.doi.org/10.1080/21678421.2019.1588904DOI Listing
August 2019

The metastability of the proteome of spinal motor neurons underlies their selective vulnerability in ALS.

Neurosci Lett 2019 06 3;704:89-94. Epub 2019 Apr 3.

Centre for Misfolding Diseases, Department of Chemistry, University of Cambridge, Cambridge, CB2 1EW, UK.

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http://dx.doi.org/10.1016/j.neulet.2019.04.001DOI Listing
June 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

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

ERp57 is protective against mutant SOD1-induced cellular pathology in amyotrophic lateral sclerosis.

Hum Mol Genet 2018 04;27(8):1311-1331

Centre for MND Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia.

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https://academic.oup.com/hmg/article/27/8/1311/4835223
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http://dx.doi.org/10.1093/hmg/ddy041DOI 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

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.

Cell Mol Life Sci 2018 01 29;75(2):335-354. Epub 2017 Aug 29.

Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.

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http://dx.doi.org/10.1007/s00018-017-2632-8DOI Listing
January 2018

Accumulation of dysfunctional SOD1 protein in Parkinson's disease is not associated with mutations in the SOD1 gene.

Acta Neuropathol 2018 01 19;135(1):155-156. Epub 2017 Oct 19.

Discipline of Biomedical Science and Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, NSW, 2006, Australia.

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http://dx.doi.org/10.1007/s00401-017-1779-6DOI Listing
January 2018

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.

Hum Mol Genet 2017 09;26(17):3452

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

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http://dx.doi.org/10.1093/hmg/ddx268DOI Listing
September 2017

Cyclin F: A component of an E3 ubiquitin ligase complex with roles in neurodegeneration and cancer.

Int J Biochem Cell Biol 2017 08 24;89:216-220. Epub 2017 Jun 24.

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

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http://dx.doi.org/10.1016/j.biocel.2017.06.011DOI Listing
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

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

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

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

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

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.

Hum Mol Genet 2015 Jul 9;24(13):3830-46. Epub 2015 Apr 9.

Department of Biomedical Sciences, Faculty of Medicine & Health Sciences, Macquarie University, NSW 2109, Australia and Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Victoria 3086, Australia

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http://dx.doi.org/10.1093/hmg/ddv126DOI Listing
July 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

Ubiquilin 2: a component of the ubiquitin-proteasome system with an emerging role in neurodegeneration.

Int J Biochem Cell Biol 2014 May 28;50:123-6. Epub 2014 Feb 28.

Australian School of Advanced Medicine, Macquarie University, Sydney, NSW, Australia. Electronic address:

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http://ac.els-cdn.com/S1357272514000673/1-s2.0-S135727251400
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http://dx.doi.org/10.1016/j.biocel.2014.02.018DOI Listing
May 2014

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

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

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

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

Association between the serotonin 2A receptor gene and bipolar affective disorder in an Australian cohort.

Psychiatr Genet 2009 Oct;19(5):244-52

Prince of Wales Medical Research Institute, University of New South Wales, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1097/YPG.0b013e32832ceea9DOI Listing
October 2009

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.

Science 2008 Mar 28;319(5870):1668-72. Epub 2008 Feb 28.

Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK.

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http://dx.doi.org/10.1126/science.1154584DOI Listing
March 2008

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

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

Life events, first depression onset and the serotonin transporter gene.

Br J Psychiatry 2006 Mar;188:210-5

Consultation Liaison Psychiatry, Level 4, DeLacy Building, St Vincent's Hospital, Victoria Street, Sydney, New South Wales 2010, Australia.

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https://www.cambridge.org/core/product/identifier/S000712500
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http://dx.doi.org/10.1192/bjp.bp.105.009522DOI Listing
March 2006

Techniques for the identification of genes involved in psychiatric disorders.

Aust N Z J Psychiatry 2005 Jul;39(7):542-9

School of Psychiatry, University of New South Wales and Black Dog Institute, Prince of Wales Hospital, Randwick, New South Wales 2031, Australia.

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http://dx.doi.org/10.1080/j.1440-1614.2005.01625.xDOI Listing
July 2005

Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.

Am J Med Genet 2002 Jan;107(3):190-6

Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington 98195, USA.

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January 2002