Publications by authors named "Pamela J Shaw"

100Publications

Biomarkers in amyotrophic lateral sclerosis: a review of new developments.

Curr Opin Neurol 2020 Oct;33(5):662-668

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

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http://dx.doi.org/10.1097/WCO.0000000000000854DOI Listing
October 2020

Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial.

EBioMedicine 2020 Jul 7:102844. Epub 2020 Jul 7.

Department of Biostatistics, Clinical Epidemiology, Public Health and Innovation in Methodology (BESPIM), Nîmes University Hospital, Nîmes, France; Department of Pharmacology, AP-HP.Sorbonne Université, Pitié-Salpêtrière Hospital, 47, Bd de l'Hôpital, F-75013 Paris, France; Department of Pharmacology, Sorbonne Université Médecine, F-75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2020.102844DOI Listing
July 2020

Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for ALS.

N Engl J Med 2020 07;383(2):109-119

From the Washington University School of Medicine, St. Louis (T.M., R.C.B., A.P.); the Healey Center for ALS, Massachusetts General Hospital, Harvard Medical School, Boston (M.C., N.A.), and Biogen, Cambridge (A.S., H.R., D.G., H.H., A.M., I.N., I.C., L.F., S.F., T.A.F.) - both in Massachusetts; the Sheffield Institute for Translational Neuroscience, University of Sheffield, and NIHR Sheffield Biomedical Research Centre and Clinical Research Facility, University of Sheffield and Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield (P.J.S., C.J.M.), and Biogen, Maidenhead (M.M.) - both in the United Kingdom; the Department of Clinical Science, Neurosciences, Umeå University, Umea, Sweden (P.M.A.); Montreal Neurological Institute and Hospital, Montreal (A.G.), and Sunnybrook Research Institute, Toronto (L.Z.); Emory University, Atlanta (J.G.); Barrow Neurological Institute, Phoenix, AZ (S.L.); the University of Ulm, Ulm, Germany (A.L.L.); Johns Hopkins University School of Medicine, Baltimore (N.J.M.); the University of California San Diego, La Jolla (J.R.), and Ionis Pharmaceuticals, Carlsbad (C.F.B., R.L.) - both in California; Paris ALS Centre, Hôpital de la Salpêtrière, Paris (F.S.); the University of Tennessee Medical Center, Knoxville (R.T.); and KU Leuven, VIB Center for Brain and Disease Research, University Hospitals Leuven, Leuven, Belgium (P.V.D.).

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http://dx.doi.org/10.1056/NEJMoa2003715DOI Listing
July 2020

Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Jul 3:1-4. Epub 2020 Jul 3.

Department of Neurology, University College London Hospitals NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1080/21678421.2020.1786128DOI Listing
July 2020

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.

Authors:
Najim Lahrouchi Rafik Tadros Lia Crotti Yuka Mizusawa Pieter G Postema Leander Beekman Roddy Walsh Kanae Hasegawa Julien Barc Marko Ernsting Kari L Turkowski Andrea Mazzanti Britt M Beckmann Keiko Shimamoto Ulla-Britt Diamant Yanushi D Wijeyeratne Yu Kucho Tomas Robyns Taisuke Ishikawa Elena Arbelo Michael Christiansen Annika Winbo Reza Jabbari Steven A Lubitz Johannes Steinfurt Boris Rudic Bart Loeys M Ben Shoemaker Peter E Weeke Ryan Pfeiffer Brianna Davies Antoine Andorin Nynke Hofman Federica Dagradi Matteo Pedrazzini David J Tester J Martijn Bos Georgia Sarquella-Brugada Óscar Campuzano Pyotr G Platonov Birgit Stallmeyer Sven Zumhagen Eline A Nannenberg Jan H Veldink Leonard H van den Berg Ammar Al-Chalabi Christopher E Shaw Pamela J Shaw Karen E Morrison Peter M Andersen Martina Müller-Nurasyid Daniele Cusi Cristina Barlassina Pilar Galan Mark Lathrop Markus Munter Thomas Werge Marta Ribasés Tin Aung Chiea C Khor Mineo Ozaki Peter Lichtner Thomas Meitinger J Peter van Tintelen Yvonne Hoedemaekers Isabelle Denjoy Antoine Leenhardt Carlo Napolitano Wataru Shimizu Jean-Jacques Schott Jean-Baptiste Gourraud Takeru Makiyama Seiko Ohno Hideki Itoh Andrew D Krahn Charles Antzelevitch Dan M Roden Johan Saenen Martin Borggrefe Katja E Odening Patrick T Ellinor Jacob Tfelt-Hansen Jonathan R Skinner Maarten P van den Berg Morten Salling Olesen Josep Brugada Ramón Brugada Naomasa Makita Jeroen Breckpot Masao Yoshinaga Elijah R Behr Annika Rydberg Takeshi Aiba Stefan Kääb Silvia G Priori Pascale Guicheney Hanno L Tan Christopher Newton-Cheh Michael J Ackerman Peter J Schwartz Eric Schulze-Bahr Vincent Probst Minoru Horie Arthur A Wilde Michael W T Tanck Connie R Bezzina

Circulation 2020 Jul 20;142(4):324-338. Epub 2020 May 20.

Amsterdam UMC, University of Amsterdam, Heart Center; Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (N.L., R.T., Y.M., P.G.P., L.B., R.W., N.H., H.L.T., A.A.W., C.R.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.045956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382531PMC
July 2020

Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis.

J Pathol 2020 Jul 8;251(3):262-271. Epub 2020 Jun 8.

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1002/path.5455DOI Listing
July 2020

Deficits in Mitochondrial Spare Respiratory Capacity Contribute to the Neuropsychological Changes of Alzheimer's Disease.

J Pers Med 2020 Apr 29;10(2). Epub 2020 Apr 29.

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

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http://dx.doi.org/10.3390/jpm10020032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354560PMC
April 2020

UK case control study of smoking and risk of amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2020 05 17;21(3-4):222-227. Epub 2020 Apr 17.

School of Psychological Science, University of Bristol, Bristol, United Kingdom.

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http://dx.doi.org/10.1080/21678421.2019.1706580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261396PMC
May 2020

Multi-dimensional electrical impedance myography of the tongue as a potential biomarker for amyotrophic lateral sclerosis.

Clin Neurophysiol 2020 Apr 1;131(4):799-808. Epub 2020 Feb 1.

Sheffield Institute for Translational Neuroscience, University of Sheffield, UK; Department of Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, UK.

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http://dx.doi.org/10.1016/j.clinph.2019.12.418DOI Listing
April 2020

Correction to: Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease.

J Neurol 2020 01;267(1):257-258

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/s00415-019-09648-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954882PMC
January 2020

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

Brain 2020 May;143(5):1332-1340

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

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http://dx.doi.org/10.1093/brain/awz358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7241952PMC
May 2020

Process evaluation and exploration of telehealth in motor neuron disease in a UK specialist centre.

BMJ Open 2019 10 22;9(10):e028526. Epub 2019 Oct 22.

Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1136/bmjopen-2018-028526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6830641PMC
October 2019

Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease.

J Neurol 2020 Jan 17;267(1):244-256. Epub 2019 Oct 17.

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/s00415-019-09580-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954906PMC
January 2020

C9orf72 intermediate expansions of 24-30 repeats are associated with ALS.

Acta Neuropathol Commun 2019 07 17;7(1):115. Epub 2019 Jul 17.

Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.

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http://dx.doi.org/10.1186/s40478-019-0724-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637621PMC
July 2019

Critical design considerations for time-to-event endpoints in amyotrophic lateral sclerosis clinical trials.

J Neurol Neurosurg Psychiatry 2019 12 10;90(12):1331-1337. Epub 2019 Jul 10.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1136/jnnp-2019-320998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6902062PMC
December 2019

Biomarkers in Motor Neuron Disease: A State of the Art Review.

Front Neurol 2019 3;10:291. Epub 2019 Apr 3.

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

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https://www.frontiersin.org/article/10.3389/fneur.2019.00291
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http://dx.doi.org/10.3389/fneur.2019.00291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456669PMC
April 2019

Telomere length is greater in ALS than in controls: a whole genome sequencing study.

Amyotroph Lateral Scler Frontotemporal Degener 2019 05 1;20(3-4):229-234. Epub 2019 Apr 1.

a Department of Basic and Clinical Neuroscience , King's College London, Maurice Wohl Clinical Neuroscience Institute , London , UK.

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http://dx.doi.org/10.1080/21678421.2019.1586951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567548PMC
May 2019

Novel genotype-phenotype and MRI correlations in a large cohort of patients with mutations.

Neurol Genet 2018 Dec 24;4(6):e279. Epub 2018 Oct 24.

Academic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244025PMC
December 2018

Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features.

Acta Neuropathol Commun 2018 11 19;6(1):125. Epub 2018 Nov 19.

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

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http://dx.doi.org/10.1186/s40478-018-0629-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240957PMC
November 2018

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.

Neurobiol Aging 2019 01 24;73:229.e5-229.e9. Epub 2018 Aug 24.

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183030
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.08.015DOI Listing
January 2019

Ursodeoxycholic Acid Improves Mitochondrial Function and Redistributes Drp1 in Fibroblasts from Patients with Either Sporadic or Familial Alzheimer's Disease.

J Mol Biol 2018 10 29;430(21):3942-3953. Epub 2018 Aug 29.

Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jmb.2018.08.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6193139PMC
October 2018

Lost in translation: microRNAs mediate pathological cross-talk between motor neurons and astrocytes.

Brain 2018 09;141(9):2534-2536

Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, 385 Glossop Road, Sheffield, UK.

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http://dx.doi.org/10.1093/brain/awy213DOI Listing
September 2018

Efficacy of the Head Up collar in facilitating functional head movements in patients with Amyotrophic Lateral Sclerosis.

Clin Biomech (Bristol, Avon) 2018 08 25;57:114-120. Epub 2018 Jun 25.

NIHR Devices for Dignity MedTech Healthcare Technology Co-operative, Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital, Sheffield, UK; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1016/j.clinbiomech.2018.06.016DOI Listing
August 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

The TiM system: developing a novel telehealth service to improve access to specialist care in motor neurone disease using user-centered design.

Amyotroph Lateral Scler Frontotemporal Degener 2018 08 16;19(5-6):351-361. Epub 2018 Feb 16.

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

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http://dx.doi.org/10.1080/21678421.2018.1440408DOI Listing
August 2018

Small RNA Sequencing of Sporadic Amyotrophic Lateral Sclerosis Cerebrospinal Fluid Reveals Differentially Expressed miRNAs Related to Neural and Glial Activity.

Front Neurosci 2017 9;11:731. Epub 2018 Jan 9.

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

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http://dx.doi.org/10.3389/fnins.2017.00731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5767269PMC
January 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

Advances, challenges and future directions for stem cell therapy in amyotrophic lateral sclerosis.

Mol Neurodegener 2017 Nov 13;12(1):85. Epub 2017 Nov 13.

Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience, Faculty of Medicine, Dentistry and Health, University of Sheffield, 385a Glossop Rd S10 2HQ, Sheffield, UK.

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http://dx.doi.org/10.1186/s13024-017-0227-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683324PMC
November 2017

Amyotrophic lateral sclerosis.

Nat Rev Dis Primers 2017 Oct 5;3:17071. Epub 2017 Oct 5.

Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/nrdp.2017.71DOI Listing
October 2017

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.

Neurology 2017 Oct 4;89(18):1915-1922. Epub 2017 Oct 4.

From the Department of Neurology, Brain Centre Rudolf Magnus (R.P.A.v.E., F.P.D., W.v.R., J.H.V., L.H.v.d.B., M.A.v.E.), and Department of Biostatistics and Research Support (M.J.C.E.), University Medical Centre Utrecht, the Netherlands; Maurice Wohl Clinical Neuroscience Institute and United Kingdom Dementia Research Institute Centre (A.R.J., W.S., A.S., C.E.S., A.A.-C.), Department of Basic and Clinical Neuroscience, King's College London; Sheffield Institute for Translational Neuroscience (SITraN) (P.J.S.), University of Sheffield, South Yorkshire; Department of Clinical Neuroscience (P.N.L.), Trafford Centre for Biomedical Research, Brighton and Sussex Medical School, Falmer, Brighton; The Walton Centre NHS Trust (C.A.Y.), Liverpool, UK; Istituti Clinici Scientifici Maugeri IRCSS (G.M.), Milan; Department of Neuroscience (J.M.), Sant'Agostino-Estense Hospital and University of Modena and Reggio Emilia, Modena; Department of Neurology (G.B.), Azienda Universitario Ospedaliera di Cagliari and University of Cagliari; Istituti Clinici Scientifici Maugeri IRCSS (P.V.), Mistretta, Italy; Rijnstate Ziekenhuis (E.V.), Arnhem, the Netherlands; Rita Levi Montalcini' Department of Neuroscience (A.C.), ALS Centre, University of Torino; and Azienda Ospedaliera Città della Salute e della Scienza (A.C.), Turin, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000004606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664299PMC
October 2017

Gene Therapy in the Nervous System: Failures and Successes.

Adv Exp Med Biol 2017 ;1007:241-257

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

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http://dx.doi.org/10.1007/978-3-319-60733-7_13DOI Listing
April 2018

Can Astrocytes Be a Target for Precision Medicine?

Adv Exp Med Biol 2017 ;1007:111-128

Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, S10 2HQ, UK.

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http://link.springer.com/10.1007/978-3-319-60733-7_7
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http://dx.doi.org/10.1007/978-3-319-60733-7_7DOI Listing
April 2018

The role of mitochondria in amyotrophic lateral sclerosis.

Neurosci Lett 2019 09 30;710:132933. Epub 2017 Jun 30.

Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience, University of Sheffield, Sheffield, S10 2HQ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neulet.2017.06.052DOI Listing
September 2019

"Anything that makes life's journey better." Exploring the use of digital technology by people living with motor neurone disease.

Amyotroph Lateral Scler Frontotemporal Degener 2017 08 20;18(5-6):378-387. Epub 2017 Feb 20.

a Sheffield Institute for Translational Neurosciences, University of Sheffield , Sheffield , UK and.

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http://dx.doi.org/10.1080/21678421.2017.1288253DOI Listing
August 2017

Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?

Front Mol Neurosci 2017 2;10:123. Epub 2017 May 2.

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

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http://dx.doi.org/10.3389/fnmol.2017.00123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411428PMC
May 2017

Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS).

Neurobiol Aging 2017 07 1;55:123-131. Epub 2017 Apr 1.

Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.03.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5455071PMC
July 2017

Comparison of the King's and MiToS staging systems for ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2017 05 5;18(3-4):227-232. Epub 2017 Jan 5.

a Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience , King's College London , UK.

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http://dx.doi.org/10.1080/21678421.2016.1265565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425622PMC
May 2017

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons.

Nat Neurosci 2016 12 10;19(12):1610-1618. Epub 2016 Oct 10.

Institute of Clinical Neurobiology, University Hospital of Wuerzburg, Wuerzburg, Germany.

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http://dx.doi.org/10.1038/nn.4407DOI Listing
December 2016

Oligodendrocytes contribute to motor neuron death in ALS via SOD1-dependent mechanism.

Proc Natl Acad Sci U S A 2016 10 29;113(42):E6496-E6505. Epub 2016 Sep 29.

The Research Institute, Nationwide Children's Hospital, Columbus, OH 43205; Department of Neuroscience, The Ohio State University, Columbus, OH 43210; Molecular, Cellular, and Developmental Biology Graduate Program, The Ohio State University, Columbus, OH 43210; Integrated Biomedical Science Graduate Program, College of Medicine, The Ohio State University, Columbus, OH 43210

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http://dx.doi.org/10.1073/pnas.1607496113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081600PMC
October 2016

Immune response in peripheral axons delays disease progression in SOD1 mice.

J Neuroinflammation 2016 10 7;13(1):261. Epub 2016 Oct 7.

Laboratory of Molecular Neurobiology, Department of Neuroscience, IRCCS - Istituto di Ricerche Farmacologiche Mario Negri, Via La Masa 19, 20156, Milan, Italy.

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http://dx.doi.org/10.1186/s12974-016-0732-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5055725PMC
October 2016

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2016 Oct - Nov;17(7-8):593-599. Epub 2016 Sep 1.

a Maurice Wohl Clinical Neuroscience Institute, King's College London, Institute of Psychiatry, Psychology and Neuroscience , London , UK.

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http://dx.doi.org/10.1080/21678421.2016.1213852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125285PMC
October 2017

A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2017 02 31;18(1-2):1-9. Epub 2016 Aug 31.

a 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/10.1080/21678421.2016.1221433DOI Listing
February 2017

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

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

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

Using technology to improve access to specialist care in amyotrophic lateral sclerosis: A systematic review.

Amyotroph Lateral Scler Frontotemporal Degener 2016 Jul-Aug;17(5-6):313-24. Epub 2016 Mar 30.

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

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http://dx.doi.org/10.3109/21678421.2016.1165255DOI Listing
October 2017

Long-term physical activity: an exogenous risk factor for sporadic amyotrophic lateral sclerosis?

Amyotroph Lateral Scler Frontotemporal Degener 2016 Jul-Aug;17(5-6):377-84. Epub 2016 Mar 21.

a Academic Neurology Unit, Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience, Faculty of Medicine, Dentistry and Health , University of Sheffield , 385A Glossop Road , Sheffield , S10 2HQ , UK and.

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http://dx.doi.org/10.3109/21678421.2016.1154575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4950417PMC
October 2017

Evaluating a novel cervical orthosis, the Sheffield Support Snood, in patients with amyotrophic lateral sclerosis/motor neuron disease with neck weakness.

Amyotroph Lateral Scler Frontotemporal Degener 2016 Jul-Aug;17(5-6):436-42. Epub 2016 Feb 26.

f Sheffield Institute for Translational Neuroscience, University of Sheffield , Sheffield , and.

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http://dx.doi.org/10.3109/21678421.2016.1148170DOI Listing
October 2017

The role of cranial and thoracic electromyography within diagnostic criteria for amyotrophic lateral sclerosis.

Muscle Nerve 2016 09 9;54(3):378-85. Epub 2016 Jun 9.

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

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http://dx.doi.org/10.1002/mus.25062DOI Listing
September 2016

Assessment of the Sheffield Support Snood, an innovative cervical orthosis designed for people affected by neck muscle weakness.

Clin Biomech (Bristol, Avon) 2016 Feb 2;32:201-6. Epub 2015 Dec 2.

Department of Mechanical Engineering, University of Sheffield, Sheffield, UK; Insigneo Institute for In silico Medicine, University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1016/j.clinbiomech.2015.11.010DOI Listing
February 2016

Cough assistance to clear lungs of ALS patients with severe bulbar dysfunction: Not a good idea!

Amyotroph Lateral Scler Frontotemporal Degener 2015 16;16(7-8):534-5. Epub 2015 Oct 16.

a The Academic Neurology Unit, Sheffield Institute for Translational Neuroscience (SITraN) , University of Sheffield , Sheffield , UK.

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http://dx.doi.org/10.3109/21678421.2015.1099676DOI Listing
August 2016

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.

Neurobiol Aging 2015 Oct 13;36(10):2908.e17-8. Epub 2015 Jul 13.

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.07.014DOI Listing
October 2015

Altered age-related changes in bioenergetic properties and mitochondrial morphology in fibroblasts from sporadic amyotrophic lateral sclerosis patients.

Neurobiol Aging 2015 Oct 11;36(10):2893-903. Epub 2015 Jul 11.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.07.013DOI Listing
October 2015

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

Effect of lipid profile on prognosis in the patients with amyotrophic lateral sclerosis: Insights from the olesoxime clinical trial.

Amyotroph Lateral Scler Frontotemporal Degener 2015 10;16(7-8):478-84. Epub 2015 Jul 10.

a The Academic Neurology Unit, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield , Sheffield , UK.

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http://dx.doi.org/10.3109/21678421.2015.1062517DOI Listing
August 2016

A preliminary randomized trial of the mechanical insufflator-exsufflator versus breath-stacking technique in patients with amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2015 3;16(7-8):448-55. Epub 2015 Jul 3.

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

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http://dx.doi.org/10.3109/21678421.2015.1051992DOI Listing
August 2016

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

Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2015 17;16(7-8):442-7. Epub 2015 Jun 17.

a Department of Basic and Clinical Neuroscience , Institute of Psychiatry, Psychology & Neuroscience, King's College London , UK.

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http://dx.doi.org/10.3109/21678421.2015.1051987DOI Listing
August 2016

Current developments in gene therapy for amyotrophic lateral sclerosis.

Expert Opin Biol Ther 2015 Jul 10;15(7):935-47. Epub 2015 May 10.

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

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http://dx.doi.org/10.1517/14712598.2015.1044894DOI Listing
July 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

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.

Alzheimers Dement 2015 Dec 30;11(12):1407-1416. Epub 2015 Apr 30.

Platform for Genome Analytics, Institutes of Neurogenetics & Integrative and Experimental Genomics, University of Lübeck, Lübeck, Germany; Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany; Neuroepidemiology and Ageing Research Unit, School of Public Health, Faculty of Medicine, The Imperial College of Science, Technology, and Medicine, London, UK.

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http://dx.doi.org/10.1016/j.jalz.2014.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627856PMC
December 2015

Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis.

Pract Neurol 2015 Aug 10;15(4):280-3. Epub 2015 Apr 10.

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

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http://dx.doi.org/10.1136/practneurol-2015-001117DOI Listing
August 2015