John Ealing

John Ealing

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John Ealing

John Ealing

Publications by authors named "John Ealing"

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Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant.

Fam Cancer 2019 10;18(4):445-449

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals Foundation Trust, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1007/s10689-019-00138-4DOI Listing
October 2019

Clinical Presentation and Outcomes of Phaeochromocytomas/Paragangliomas in Neurofibromatosis Type 1.

Eur Endocrinol 2019 Aug 16;15(2):95-100. Epub 2019 Aug 16.

Department of Endocrinology, The Royal Victoria Infirmary, Newcastle Hospitals NHS Foundation Trust, Newcastle upon-Tyne, UK.

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http://dx.doi.org/10.17925/EE.2019.15.2.95DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785954PMC
August 2019

FUS-ALS presenting with myoclonic jerks in a 17-year-old man.

Amyotroph Lateral Scler Frontotemporal Degener 2019 05 18;20(3-4):278-280. Epub 2019 Mar 18.

a Department of Neurology , Greater Manchester Neurosciences Centre, Salford Royal Foundation Trust , Salford , UK.

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http://dx.doi.org/10.1080/21678421.2019.1582665DOI Listing
May 2019

Schwannomatosis: a genetic and epidemiological study.

J Neurol Neurosurg Psychiatry 2018 11 16;89(11):1215-1219. Epub 2018 Jun 16.

Department of Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/jnnp-2018-318538DOI Listing
November 2018

C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics.

J Neurosurg Spine 2018 10;30(1):126-132

2Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Sciences, The University of Manchester, United Kingdom.

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http://dx.doi.org/10.3171/2018.7.SPINE171340DOI Listing
October 2018

Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.

Neurol Neurochir Pol 2017 Nov - Dec;51(6):497-500. Epub 2017 Jul 8.

Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Stott Lane, Salford M6 8HD, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00283843173000
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http://dx.doi.org/10.1016/j.pjnns.2017.06.012DOI Listing
March 2018

A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant.

Neurol Neurochir Pol 2018 Mar 14;52(2):293-297. Epub 2017 Dec 14.

Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Stott Lane, Salford M6 8HD, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.pjnns.2017.12.004DOI Listing
March 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

Farrell valve relieves bloating in gastrostomy patient.

BMJ Support Palliat Care 2017 Sep 3;7(3):258-260. Epub 2017 Jul 3.

St Ann's Hospice, Manchester, UK.

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http://dx.doi.org/10.1136/bmjspcare-2017-001375DOI Listing
September 2017

Pathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathy.

Acta Neuropathol Commun 2016 Mar 31;4:33. Epub 2016 Mar 31.

Clinical and Cognitive Sciences Research Group, Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford, M6 8HD, UK.

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http://dx.doi.org/10.1186/s40478-016-0301-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818389PMC
March 2016

Psychosis in a patient with probable multiple system atrophy of cerebellar type.

J Neurol Sci 2015 Nov 18;358(1-2):501-2. Epub 2015 Sep 18.

Department of Neurology, Greater Manchester Neurosciences Centre, Salford, U.K.; Centre for Clinical and Cognitive Neurosciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, U.K.. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.09.354DOI Listing
November 2015

'You don't get told anything, they don't do anything and nothing changes'. Medicine as a resource and constraint in progressive ataxia.

Health Expect 2015 Apr 24;18(2):177-87. Epub 2012 Oct 24.

Health Sciences Research Group - Methodology, The University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1111/hex.12016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5060777PMC
April 2015

Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.

Neurobiol Aging 2015 Mar 12;36(3):1601.e1-5. Epub 2014 Dec 12.

Faculty of Human and Medical Sciences, Institute of Brain Behaviour and Mental Health, University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4353501PMC
March 2015

"Six sessions is a drop in the ocean": an exploratory study of neurological physiotherapy in idiopathic and inherited ataxias.

Physiotherapy 2013 Dec 16;99(4):335-40. Epub 2013 Mar 16.

Centre for Primary Care, Institute of Population Health, 5th Floor, Williamson Building, University of Manchester, Oxford Road, Manchester M13 9PL, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.physio.2013.02.001DOI Listing
December 2013

Management of sialorrhoea in motor neuron disease: a survey of current UK practice.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Dec 7;14(7-8):521-7. Epub 2013 May 7.

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, & Academic Directorate of Neurosciences, Royal Hallamshire Hospital , Sheffield Teaching Hospitals NHS Foundation Trust , Sheffield.

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http://dx.doi.org/10.3109/21678421.2013.790452DOI Listing
December 2013

The impact of fatigue and psychosocial variables on quality of life for patients with motor neuron disease.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Dec 31;14(7-8):537-45. Epub 2013 May 31.

The Walton Centre for Neurology and Neurosurgery , Liverpool.

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http://dx.doi.org/10.3109/21678421.2013.799700DOI Listing
December 2013

Spinal bone defects in neurofibromatosis type I with dural ectasia: stress fractures or dysplastic? A case series.

Eur Radiol 2013 Dec 28;23(12):3418-21. Epub 2013 Jun 28.

Department of Radiology, Manchester Royal Infirmary, Oxford Road, Manchester, M13 9WL, UK,

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http://link.springer.com/10.1007/s00330-013-2941-8
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http://dx.doi.org/10.1007/s00330-013-2941-8DOI Listing
December 2013

Assessing social isolation in motor neurone disease: a Rasch analysis of the MND Social Withdrawal Scale.

J Neurol Sci 2013 Nov 9;334(1-2):112-8. Epub 2013 Aug 9.

The Walton Centre for Neurology and Neurosurgery, Lower Lane, Liverpool, UK; NIHR Collaboration for Leadership in Applied Health Research and Care for Greater Manchester, Centre for Primary Care, University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2013.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3837185PMC
November 2013

The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.

J Neurol Sci 2013 Feb 27;325(1-2):165-9. Epub 2012 Dec 27.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1016/j.jns.2012.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3560033PMC
February 2013

Getting a diagnosis v. learning to live with it? The case of the progressive ataxias.

Chronic Illn 2011 Jun 27;7(2):120-33. Epub 2011 Jan 27.

Health Sciences -- Methodology Research Group, School of Community Based Medicine, The University of Manchester, Jean McFarlane Building, Manchester, UK.

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http://journals.sagepub.com/doi/10.1177/1742395310390532
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http://dx.doi.org/10.1177/1742395310390532DOI Listing
June 2011

Selective cleavage of AChR cRNAs harbouring mutations underlying the slow channel myasthenic syndrome by hammerhead ribozymes.

J RNAi Gene Silencing 2005 Jul 28;1(1):26-31. Epub 2005 Jul 28.

Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford OX3 9DS, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2737193PMC
July 2005

Selective DNAzyme-mediated cleavage of AChR mutant transcripts by targeting the mutation site or through mismatches in the binding arm.

J RNAi Gene Silencing 2005 Jul 28;1(1):32-7. Epub 2005 Jul 28.

Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford OX3 9DS, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2737196PMC
July 2005

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.

Ann N Y Acad Sci 2003 Sep;998:114-24

Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford OX3 9DS, United Kingdom.

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http://dx.doi.org/10.1196/annals.1254.013DOI Listing
September 2003