Johnathan Cooper-Knock

Johnathan Cooper-Knock

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Johnathan Cooper-Knock

Johnathan Cooper-Knock

Publications by authors named "Johnathan Cooper-Knock"

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35Publications

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Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration.

Brain 2019 Nov 14. Epub 2019 Nov 14.

Sheffield Institute for Translational Neuroscience (SITraN), Sheffield, UK.

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http://dx.doi.org/10.1093/brain/awz358DOI Listing
November 2019

Age-Associated mRNA and miRNA Expression Changes in the Blood-Brain Barrier.

Int J Mol Sci 2019 Jun 25;20(12). Epub 2019 Jun 25.

Sheffield Institute for Translational Neuroscience, 385a Glossop Road, University of Sheffield, Sheffield S10 2HQ, UK.

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http://dx.doi.org/10.3390/ijms20123097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627814PMC
June 2019

Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East.

Dermatol Res Pract 2018 7;2018:1284568. Epub 2018 Aug 7.

Department of Infection, Immunity and Cardiovascular Disease, The Medical School, University of Sheffield, Sheffield S10 2RX, UK.

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http://dx.doi.org/10.1155/2018/1284568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106946PMC
August 2018

Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis.

Amyotroph Lateral Scler Frontotemporal Degener 2016 Oct - Nov;17(7-8):614-616. Epub 2016 Apr 20.

a Sheffield Institute for Translational Neuroscience (SITraN) , University of Sheffield and.

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http://dx.doi.org/10.3109/21678421.2016.1170150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5152543PMC
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

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.

Front Mol Neurosci 2017 9;10:370. Epub 2017 Nov 9.

Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, United Kingdom; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, United Kingdom; Suna and Inan Kirac Foundation, Neurodegeneration Research Laboratory, Bogazici University, Istanbul, Turkey; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Republic of Ireland; Department of Neurology, Beaumont Hospital, Dublin, Republic of Ireland; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom; Biostatistics Department, Harvard School of Public Health, Boston, MA, United States; Department of Biostatistics, IoPPN, King's College London, London, United Kingdom; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, United States; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, United States; Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, United Kingdom; University of Exeter Medical School, Exeter University, St. Luke's Campus, Magdalen Street, Exeter EX1 2LU, United Kingdom; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium; University Hospitals Leuven, Department of Neurology, Leuven, Belgium; Hospital San Rafael, Madrid, Spain; Faculty of Medicine, University of Southampton, Southampton, United Kingdom; Department of Biostatistics, IoPPN, King's College London, London, United Kingdom; Biomedical Research Centre for Mental Health, IoPPN, King's College London, London, United Kingdom; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, United Kingdom; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, United Kingdom; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, London, United Kingdom; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium, VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium; University Hospitals Leuven, Department of Neurology, Leuven, Belgium; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; SURFsara, Amsterdam, Netherlands; Emory University, Atlanta, United States; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium; University Hospitals Leuven, Department of Neurology, Leuven, Belgium; Hadassah University Hospital, Jerusalem, Israel; Tel-Aviv Medical Center, Tel-Aviv, Israel; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia; Universidade de São Paulo, Brazil; Universidade de São Paulo, Brazil; Université de Limoges, France; Université François-Rabelais, Tours, France; IRCCS Instituto Auxologico Italiano, Milan, Italy; Universita degli Studi dei Torino, Turin, Italy; Instituto de Medicina Molecular, University of Lisbon, Lisbon, Portugal; Instituto de Medicina Molecular, University of Lisbon, Lisbon, Portugal; Hospital Carlos III, Madrid, Spain; Umeå University, Umeå, Sweden; Kantonspittal St. Gallen, St. Gallen, Switzerland; IRCCS Instituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.3389/fnmol.2017.00370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5684183PMC
November 2017

Physiological Fluid Flow Moderates Fibroblast Responses to TGF-β1.

J Cell Biochem 2017 04 10;118(4):878-890. Epub 2016 Nov 10.

Academic Unit of Oral and Maxillofacial Pathology, School of Clinical Dentistry, University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1002/jcb.25767DOI Listing
April 2017

Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions.

Neuropathol Appl Neurobiol 2016 06 7;42(4):377-89. Epub 2015 Jul 7.

Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1111/nan.12254DOI Listing
June 2016

Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.

Neuropathology 2016 Apr 24;36(2):125-34. Epub 2015 Aug 24.

Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience, University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1111/neup.12240DOI Listing
April 2016

C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population.

Neurobiol Aging 2015 Oct 9;36(10):2908.e5-9. Epub 2015 Jul 9.

Laboratory of Genetic Modeling of Neurodegenerative Processes, Institute of Physiologically Active Compounds Russian Academy of Sciences, Moscow Region, Russian Federation; School of Biosciences, Cardiff University, Cardiff, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.07.004DOI Listing
October 2015

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

Acta Neuropathol 2015 Jul 6;130(1):63-75. Epub 2015 May 6.

Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, 385A Glossop Road, Sheffield, S10 2HQ, UK.

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http://dx.doi.org/10.1007/s00401-015-1429-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468790PMC
July 2015

Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology.

Amyotroph Lateral Scler Frontotemporal Degener 2015 Jun 1;16(3-4):249-51. Epub 2014 Dec 1.

Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield , UK.

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http://dx.doi.org/10.3109/21678421.2014.977296DOI Listing
June 2015

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.

Neurotherapeutics 2015 Apr;12(2):326-39

Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, 385A Glossop Road, Sheffield, S10 2HQ, UK.

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http://dx.doi.org/10.1007/s13311-015-0342-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404438PMC
April 2015

Gamma-synuclein pathology in amyotrophic lateral sclerosis.

Ann Clin Transl Neurol 2015 Jan 12;2(1):29-37. Epub 2014 Dec 12.

School of Biosciences, Cardiff University Museum Avenue, Cardiff, CF10 3AX, United Kingdom.

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http://dx.doi.org/10.1002/acn3.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301672PMC
January 2015

Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis.

PLoS One 2014 27;9(1):e87508. Epub 2014 Jan 27.

Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0087508PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3903649PMC
September 2014

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions.

Brain 2014 Jul 27;137(Pt 7):2040-51. Epub 2014 May 27.

1 Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, 385A Glossop Road, Sheffield S10 2HQ, UK

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http://dx.doi.org/10.1093/brain/awu120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065024PMC
July 2014

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.

Acta Neuropathol 2014 Mar 19;127(3):407-18. Epub 2014 Jan 19.

Cell and Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s00401-013-1239-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4003885PMC
March 2014

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.

Acta Neuropathol 2014 Mar 4;127(3):333-45. Epub 2014 Feb 4.

Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.

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http://dx.doi.org/10.1007/s00401-014-1251-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925297PMC
March 2014

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles.

Neurology 2013 Nov 9;81(19):1719-21. Epub 2013 Oct 9.

From the Sheffield Institute for Translational Neuroscience (SITraN) (J.C.-K., A.H., N.B., J.J.B., J.K., P.J.S.), University of Sheffield; and the School of Biosciences (N.C.-R., N.N., V.L.B.), Cardiff University, UK.

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http://dx.doi.org/10.1212/01.wnl.0000435295.41974.2eDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812108PMC
November 2013

Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Sep 4;14(5-6):473-5. Epub 2013 Jan 4.

Academic Unit of Neurology, Sheffield Institute for Translational Neuroscience (SITraN), 385a Glossop Road, Sheffield, UK.

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http://dx.doi.org/10.3109/21678421.2012.746989DOI Listing
September 2013

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.

J Neurol Neurosurg Psychiatry 2013 Jan 20;84(1):79-87. Epub 2012 Oct 20.

Academic Neurology Unit, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, 385A Glossop Road, Sheffield S10 2HQ, UK.

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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2012-303326
Publisher Site
http://dx.doi.org/10.1136/jnnp-2012-303326DOI Listing
January 2013

Gene expression profiling in human neurodegenerative disease.

Nat Rev Neurol 2012 Sep 14;8(9):518-30. Epub 2012 Aug 14.

Academic Unit of Neurology, Sheffield Institute for Translational Neuroscience, University of Sheffield, 385A Glossop Road, Sheffield S10 2HQ, UK.

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http://dx.doi.org/10.1038/nrneurol.2012.156DOI Listing
September 2012

The use of subcutaneous glycopyrrolate in the management of sialorrhoea and facilitating the use of non-invasive ventilation in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2011 Nov 9;12(6):464-5. Epub 2011 May 9.

Academic Unit of Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.3109/17482968.2011.584195DOI Listing
November 2011

Early diagnosis of Horner syndrome using topical apraclonidine.

J Neuroophthalmol 2011 Sep;31(3):214-6

Department of Neurology, Sheffield Teaching Hospitals NHS Trust, University of Sheffield, Sheffield, United Kingdom.

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https://insights.ovid.com/crossref?an=00041327-201109000-000
Publisher Site
http://dx.doi.org/10.1097/WNO.0b013e31821a91feDOI Listing
September 2011