Professor Chris McDermott

MBChB, FRCP, PhD

Neuroscience, School of Medicine and Population Health

Professor of Translational Neurology

Honorary Consultant Neurologist

c.j.mcdermott@sheffield.ac.uk
+44 114 222 2295

+44 114 226 1049 (Medical NHS Secretary: Helen Rains)

Sheffield Institute for Translational Neuroscience (SITraN)

Full contact details

Professor Chris McDermott
Neuroscience, School of Medicine and Population Health
Sheffield Institute for Translational Neuroscience (SITraN)
385a Glossop Road
Sheffield
S10 2HQ

Profile

Prof McDermott studied for his medical degree at the University in Leeds graduating in 1994. He then continued is general medical and specialist neurology training in Leeds before taking up a clinical research training fellowship at the University of Newcastle upon Tyne.

He moved to the University of Sheffield with Professor Dame Pamela Shaw in 2000 to undertake his Wellcome Trust Research Training PhD Fellowship and to complete his Specialist Training in Neurology to become a Consultant Neurologist in 2006. Prof McDermott is now the Professor of Translational Neurology at SITraN, an NIHR Research Professor and a Consultant Neurologist at the Sheffield Teaching Hospitals Foundation NHS Trust regularly undertaking specialist MND and neuromuscular clinics in Sheffield.

The main drive of Prof McDermott’s research programme is evaluating the new treatments for motor neuron disease. He is also passionate about developing the evidence base for delivering supportive and symptomatic care for patients living with motor neuron disease now.

Qualifications

2021 – to date

NIHR Research Professor

2018 - 2022
Professor of Translational Neurology
Head of Department

2017 – to date
Professor of Translational Neurology
Academic Director for Neuroscience, Sheffield Teaching Hospitals NHS Foundation Trust

2006 - 2013
Clinical Senior Lecturer in Neurology

2002 - 2006
Specialist Training in Neurology (CCT), Sheffield

2000 - 2002
Wellcome Trust Research Training Fellowship (PhD), University of Sheffield

1998 - 2000
Clinical Research Fellow, University of Newcastle upon Tyne

1997 - 1998
Specialist Training in Neurology, Leeds

1994 - 1997
General professional training (MRCP), Leeds Teaching Hospitals

1989 - 1994
Medicine (MBChB), University of Leeds

Research interests

Current Projects

Designing and conducting clinical trials in MND
Collaborating with pharmaceutical companies in Phase 1-3 studies
Improving symptomatic management for patients with MND
Developing and evaluating novel service delivery mechanisms for patients with MND and long term neurological conditions
Investigating optimal respiratory support for patients with MND
Establishing an evidence base for nutritional support in MND
Exploring the role of the microbiome in MND
Designing and evaluating assistive technologies for patients with neuromuscular weakness
Genetic and phenotypic characterisation of motor system disorders
Natural history study of motor system disorders
Designing and conducting clinical trials in MND
Collaborating with pharmaceutical companies in Phase 1-3 studies
Improving symptomatic management for patients with MND
Epidemiology of motor neuron disease

Publications

Journal articles

Qiang Z, Barnett L, Bingham G, Han O, Walsh A, Conwill M, McDonough HE, McDermott CJ, Shaw PJ & Alix JJP (2024) The diagnostic journey of patients being investigated for myopathy in a tertiary centre in England. Journal of Neurology, 272(1). View this article in WRRO
Rawlinson C, Gould RL, McDermott CJ, Thompson B, Weeks K, Gossage-Worrall R, Serfaty MA, Graham CD, McCracken L, White D , Howard RJ et al (2024) Experiences of acceptance and commitment therapy for people living with motor neuron disease (MND): a qualitative study from the perspective of people living with MND and therapists. The Cognitive Behaviour Therapist, 17.
Pal S, Chataway J, Swingler R, Macleod MR, Carragher NO, Hardingham G, Selvaraj BT, Smith C, Wong C, Newton J , Lyle D et al (2024) Safety and efficacy of memantine and trazodone versus placebo for motor neuron disease (MND SMART): stage two interim analysis from the first cycle of a phase 3, multiarm, multistage, randomised, adaptive platform trial. The Lancet Neurology, 23(11), 1097-1107.
Carlton J, Powell P, Rowen D, Williams C, Griffiths AW, Hobson E & McDermott C (2024) Development of a novel patient reported outcome measure for health-related quality of life in amyotrophic lateral sclerosis (PROQuALS): study protocol. Health and Quality of Life Outcomes, 22(1). View this article in WRRO
McDool E, Carlton J, Powell PA, Coates E, Knox L, Mayberry E, Appleby N, Griffiths AW, Hobson E & McDermott CJ (2024) Measuring Health-Related Quality of Life in Amyotrophic Lateral Sclerosis. Neurology, 103(2).
Hobson E & McDermott C (2024) Advances in symptom management and in monitoring disease progression in motor neuron disease, 119-169.
Gould RL, McDermott CJ, Thompson BJ, Rawlinson CV, Bursnall M, Bradburn M, Kumar P, Turton EJ, White DA, Serfaty MA , Graham CD et al (2024) Acceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND): a multicentre, parallel, randomised controlled trial in the UK. The Lancet. View this article in WRRO
Keetharuth AD, Gould R, McDermott C, Thompson B, Rawlinson C, Bradburn M, Bursnall M, Kumar P, Turton E, Tappenden P , White D et al (2024) Cost-effectiveness of acceptance and commitment therapy for people living with motor neuron disease, and their health-related quality of life. European Journal of Neurology. View this article in WRRO
Alix JJP, Plesia M, Dudgeon AP, Kendall CA, Hewamadduma C, Hadjivassiliou M, Gorman GS, Taylor RW, McDermott CJ, Shaw PJ , Mead RJ et al (2024) Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology. The Analyst. View this article in WRRO
Richardson PJ, Smith DP, de Giorgio A, Snetkov X, Almond-Thynne J, Cronin S, Mead RJ, McDermott CJ & Shaw PJ (2023) Janus kinase inhibitors are potential therapeutics for amyotrophic lateral sclerosis. Translational Neurodegeneration, 12(1). View this article in WRRO
Wheelwright S, Maunsell R, Taylor S, Drinkwater N, Erridge C, Foster C, Hardcastle M, Hogden A, Lawson I, Lisiecka D , McDermott C et al (2023) Development and pilot testing of a web-based decision aid for people with motor neurone disease considering a gastrostomy tube (DiAMoND Study). Clinical Nutrition ESPEN, 57, 839-839.
Roscoe S, Skinner E, Kabucho Kibirige E, Childs C, Weekes CE, Wootton S, Allen S, McDermott C & Stavroulakis T (2023) A critical view of the use of predictive energy equations for the identification of hypermetabolism in motor neuron disease: a pilot study. Clinical Nutrition ESPEN.
Gould RL, Rawlinson C, Thompson B, Weeks K, Gossage-Worrall R, Cantrill H, Serfaty MA, Graham CD, McCracken LM, White D , Howard RJ et al (2023) Acceptance and commitment therapy for people living with motor neuron disease: an uncontrolled feasibility study. Pilot and Feasibility Studies, 9.
van Unnik JWJ, Nikolakopoulos S, Eijkemans MJC, Gonzalez-Bermejo J, Bruneteau G, Morelot-Panzini C, van den Berg LH, Cudkowicz ME, McDermott CJ, Similowski T & van Eijk RPA (2023) Development and Evaluation of a Simulation-Based Algorithm to Optimize the Planning of Interim Analyses for Clinical Trials in ALS. Neurology, Publish Ahead of Print.
Rose L, Thaventhiran T, Hobson E, Rogers R, James K, Chu P, Carter B, Faull C, Saha S, Lee JS , Kaltsakas G et al (2023) Digital peer-to-peer support programme for informal caregivers of people living with motor neuron disease: study protocol for a multi-centre parallel group, single-blinded (outcome assessor) randomised controlled superiority trial. Trials, 24.
O'Brien MR, McDermott C, Aoun S, Oliver D & Kirton JA (2023) The diagnostic experience for people with MND and their caregivers in the U.K.. Journal of the Neurological Sciences, 444, 120483-120483.
Gould RL, Thompson BJ, Rawlinson C, Kumar P, White D, Serfaty MA, Graham CD, McCracken LM, Bursnall M, Bradburn M , Young T et al (2022) A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol. BMC Neurology, 22(1). View this article in WRRO
Boyce D, Robinson M, Cedarbaum JM, Shank LM, McDermott CJ & van Eijk RPA (2022) A qualitative evaluation of the revised amyotrophic lateral sclerosis functional rating scale (ALSFRS-R) by the patient community: a web-based cross-sectional survey.. Amyotroph Lateral Scler Frontotemporal Degener, 1-9.
Miller TM, Cudkowicz ME, Genge A, Shaw PJ, Sobue G, Bucelli RC, Chiò A, Van Damme P, Ludolph AC, Glass JD , Andrews JA et al (2022) Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. New England Journal of Medicine, 387(12), 1099-1110.
Mei XW, Burchardt J, Ranger TA, McDermott CJ, Radunovic A, Coupland C & Hippisley-Cox J (2022) Identifying key signs of motor neurone disease in primary care : a nested case–control study using the QResearch database. BMJ Open, 12(6).
Schooling CN, Healey TJ, McDonough HE, French SJ, McDermott CJ, Shaw PJ, Kadirkamanathan V & Alix JJP (2022) Tensor electrical impedance myography identifies bulbardisease progression in amyotrophic lateral sclerosis. Clinical Neurophysiology.
McNeill A, Amador M-D-M, Bekker H, Clarke A, Crook A, Cummings C, McEwen A, McDermott C, Quarrell O, Renieri A , Roggenbuck J et al (2022) Predictive genetic testing for motor neuron disease : time for a guideline?. European Journal of Human Genetics. View this article in WRRO
Essat M, Coates E, Clowes M, Beever D, Hackney G, White S, Stavroulakis T, Halliday V, McDermott C & group TH (2022) Understanding the current nutritional management for people with amyotrophic lateral sclerosis - A mapping review. Clinical Nutrition ESPEN.
Doets AY, Walgaard C, Lingsma HF, Islam B, Papri N, Yamagishi Y, Kusunoki S, Dimachkie MM, Waheed W, Kolb N , Gorson KC et al (2022) International Validation of the Erasmus Guillain–Barré Syndrome Respiratory Insufficiency Score. Annals of Neurology, 91(4), 521-531.
Arends S, Drenthen J, van den Bergh P, Franssen H, Hadden RDM, Islam B, Kuwabara S, Reisin RC, Shahrizaila N, Amino H , Antonini G et al (2022) Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values. Clinical Neurophysiology, 138, 231-240.
Alix J, Plesia M, Lloyd GR, Dudgeon A, Kendall CA, Hewamadduma C, Hadjivassiliou M, McDermott C, Gorman G, Taylor R , Shaw PJ et al (2022) Rapid identification of human muscle disease with fibre optic Raman spectroscopy. Analyst.
Chan Y, Alix JJP, Neuwirth C, Barkhaus PE, Castro Tech J, Jenkins TM, McDermott CJ, Shaw PJ, Carvalho M, Nandedkar S , Stålberg E et al (2021) Reinnervation as measured by the motor unit size index is associated with preservation of muscle strength in amyotrophic lateral sclerosis but not all muscles reinnervate. Muscle & Nerve. View this article in WRRO
Bedlack R, Barkhaus PE, Barnes B, Beauchamp M, Bertorini T, Bromberg MB, Carter GT, Chaudry V, Cudkowicz M, Jackson C , Levitsky G et al (2021) ALSUntangled #63: ketogenic diets.. Amyotroph Lateral Scler Frontotemporal Degener, 1-5.
Sassani M, Alix J, Mcdermott C, Baster K, Hoggard N, Wild J, Mortiboys H, Shaw P, Wilkinson I & Jenkins T (2021) Brain energy metabolism in ALS: A phosphorus-31 magnetic resonance spectroscopy study. Journal of the Neurological Sciences, 429, 119412-119412. View this article in WRRO
Murray D, Rooney J, Al-Chalabi A, Bunte T, Chiwera T, Choudhury M, Chio A, Fenton L, Fortune J, Maidment L , Manera U et al (2021) Correlations between measures of ALS respiratory function: is there an alternative to FVC?. Amyotroph Lateral Scler Frontotemporal Degener, 1-10.
van Eijk RPA, Beelen A, Kruitwagen ET, Murray D, Radakovic R, Hobson E, Knox L, Helleman J, Burke T, Rubio Pérez MÁ , Reviers E et al (2021) A Road Map for Remote Digital Health Technology for Motor Neuron Disease.. J Med Internet Res, 23(9), e28766.
Van Eenennaam RM, Kruithof WJ, Kruitwagen-Van Reenen ET, van den Berg LH, Visser-Meily JMA & Beelen A (2021) Current practices and barriers in gastrostomy indication in amyotrophic lateral sclerosis: a survey of ALS care teams in The Netherlands.. Amyotroph Lateral Scler Frontotemporal Degener, 1-10.
Conroy É, Kennedy P, Heverin M, Leroi I, Mayberry E, Beelen A, Stavroulakis T, van den Berg LH, McDermott CJ, Hardiman O & Galvin M (2021) Informal caregivers in amyotrophic lateral sclerosis : a multi-centre, exploratory study of burden and difficulties. Brain Sciences, 11(8). View this article in WRRO
Shepheard SR, Parker MD, Cooper-Knock J, Verber NS, Tuddenham L, Heath P, Beauchamp N, Place E, Sollars ESA, Turner MR , Malaspina A et al (2021) Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.. J Neurol Neurosurg Psychiatry.
van Eijk RPA, de Jongh AD, Nikolakopoulos S, McDermott CJ, Eijkemans MJC, Roes KCB & van den Berg LH (2021) An old friend who has overstayed their welcome : the ALSFRS-R total score as primary endpoint for ALS clinical trials. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.
Halliday V, Zarotti N, Coates E, McGeachan A, Williams I, White S, Beever D, Norman P, Gonzalez S, Hackney G , Ezaydi N et al (2021) Delivery of nutritional management services to people with amyotrophic lateral sclerosis (ALS).. Amyotroph Lateral Scler Frontotemporal Degener, 1-10.
Boddy SL, Giovannelli I, Sassani M, Cooper-Knock J, Snyder MP, Segal E, Elinav E, Barker LA, Shaw PJ & McDermott CJ (2021) The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS). BMC Medicine, 19(1).
Richard B, Crayle J, Armon C, Barkhaus P, Barnes B, Benatar M, Bertorini T, Bowser R, Bromberg M, Brooks B , Brylev L et al (2021) ALSUntangled 55: vitamin E (α-tocopherol). Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22(1-2), 154-160.
Bedlack R, Armon C, Barkhaus P, Barnes B, Bereman M, Bertorini T, Carter G, Chen A, Crayle J, Cudkowicz M , Jackson C et al (2021) ALSUntangled 57: Vinpocetine. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22(3-4), 316-319.
Young CA, McDermott CJ, Williams TL, Ealing J, Majeed T, Al-Chalabi A, Dick DJ, Talbot K, Harrower T, Pinto A , Hanemann CO et al (2021) Measuring coping in people with amyotrophic lateral sclerosis using the Coping Index-ALS: A patient derived, Rasch compliant scale. Journal of the Neurological Sciences, 421, 117285-117285.
(2021) ALSUntangled 58: Azathioprine. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22(7-8), 592-594.
Ghahremani Nezhad H, Franklin JP, Alix JJP, Moll T, Pattrick M, Cooper-Knock J, Shanmugarajah P, Beauchamp NJ, Hadjivissiliou M, Paling D , Mcdermott C et al (2020) Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.
Aggarwal A, Stavroulakis T & McDermott CJ (2020) The impact of gastrostomy feeding on the lives of patients: A systematic review. Clinical Nutrition ESPEN, 40, 519-519.
Schooling CN, Jamie Healey T, McDonough HE, French SJ, McDermott CJ, Shaw PJ, Kadirkamanathan V & Alix JJP (2020) Modelling and analysis of electrical impedance myography of the lateral tongue. Physiological Measurement, 41(12).
Miller T, Cudkowicz M, Shaw PJ, Andersen PM, Atassi N, Bucelli RC, Genge A, Glass J, Ladha S, Ludolph AL , Maragakis NJ et al (2020) Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. New England Journal of Medicine, 383(2), 109-119. View this article in WRRO
van Eijk RPA, Kliest T, McDermott CJ, Roes KCB, Van Damme P, Chio A, Weber M, Ingre C, Corcia P, Povedano M , Reviers E et al (2020) TRICALS: creating a highway toward a cure. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. View this article in WRRO
(2020) ALSUntangled No. 54: “LEAP2BFIT”. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21(3-4), 314-319.
(2020) ALSUntangled 53: Carnitine supplements. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21(5-6), 477-483.
Maunsell RH, Bloomfield S, Erridge C, Foster C, Hardcastle M, Hogden A, Kidd A, Lisiecka D, McDermott CJ, Morrison K , Recio-Saucedo A et al (2020) Developing a web-based patient decision aid for gastrostomy in motor neurone disease. Clinical Nutrition ESPEN, 35, 235-235.
Alix JJP, McDonough HE, Sonbas B, French SJ, Rao DG, Kadirkamanathan V, McDermott CJ, Healey TJ & Shaw PJ (2020) Multi-dimensional electrical impedance myography of the tongue as a potential biomarker for amyotrophic lateral sclerosis. Clinical Neurophysiology. View this article in WRRO
Edge R, Mills R, Tennant A, Diggle PJ & Young CA (2020) Correction to: Do pain, anxiety and depression influence quality of life for people with amyotrophic lateral sclerosis/motor neuron disease? A national study reconciling previous conflicting literature. Journal of Neurology, 267(3), 616-617.
Jenkins TM, Alix JJP, Fingret J, Esmail T, Hoggard N, Baster K, McDermott CJ, Wilkinson ID & Shaw PJ (2020) Correction to: Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease. Journal of Neurology, 267(1), 257-258.
(2020) ALSUntangled 56: “ten red flags”-things to be wary of in alternative or off-label products. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21(7-8), 642-647.
(2020) ALSUntangled No. 52: Glutathione. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21(1-2), 154-157.
ALSUntangled Group (2020) ALSUntangled 51: RCH4.. Amyotroph Lateral Scler Frontotemporal Degener, 21(1-2), 150-153.
Mcdermott C (2020) Developing the evidence base for the management of drooling. Developmental Medicine & Child Neurology, 62(3), 270-270.
McDermott CJ (2020) Stay at home with the amyotrophic lateral sclerosis functional rating scale. Journal of Neurology, Neurosurgery & Psychiatry, 91(1), 7-7.
Edge R, Mills R, Tennant A, Diggle PJ & Young CA (2020) Do pain, anxiety and depression influence quality of life for people with amyotrophic lateral sclerosis/motor neuron disease? A national study reconciling previous conflicting literature. Journal of Neurology, 267(3), 607-615.
Maunsell R, Bloomfield S, Erridge C, Foster C, Hardcastle M, Hogden A, Kidd A, Lisiecka D, McDermott CJ, Morrison K , Recio-Saucedo A et al (2019) Developing a web-based patient decision aid for gastrostomy in motor neuron disease : a study protocol. BMJ Open, 9(12). View this article in WRRO
Essat M, Archer R, Williams I, Zarotti N, Coates E, Clowes M, Beever D, Hackney G, White S, Stavroulakis T , White D et al (2019) Interventions to promote oral nutritional behaviours in people living with neurodegenerative disorders of the motor system : a systematic review. Clinical Nutrition. View this article in WRRO
Hobson EV, Baird WO, Bradburn M, Cooper C, Mawson S, Quinn A, Shaw PJ, Walsh T & McDermott CJ (2019) Using telehealth in motor neuron disease to increase access to specialist multidisciplinary care : a UK-based pilot and feasibility study. BMJ Open, 9(10). View this article in WRRO
Hobson E, Baird W, Bradburn M, Cooper C, Mawson S, Quinn A, Shaw PJ, Walsh T & McDermott CJ (2019) Process evaluation and exploration of telehealth in motor neuron disease in a UK specialist centre. BMJ Open, 9. View this article in WRRO
Zarotti N, Coates E, McGeachan A, Williams I, Beever D, Hackney G, Norman P, Stavroulakis T, White D, White S , Halliday V et al (2019) Health care professionals’ views on psychological factors affecting nutritional behaviour in people with motor neuron disease : a thematic analysis. British Journal of Health Psychology. View this article in WRRO
McDermott CJ (2019) Clinical trials in amyotrophic lateral sclerosis. Current Opinion in Neurology, 32(5), 758-763.
Turner MR, Faull C, McDermott CJ, Nickol AH, Palmer J & Talbot K (2019) Tracheostomy in motor neurone disease. Practical Neurology, 19(6), 467-475.
O'Brien D, Stavroulakis T, Baxter S, Norman P, Bianchi S, Elliott M, Johnson M, Clowes M, Garcia-Sánchez A, Hobson E & McDermott C (2019) The optimisation of non-invasive ventilation in amyotrophic lateral sclerosis : a systematic review. European Respiratory Journal. View this article in WRRO
Baxter S, Johnson M, Clowes M, O'Brien D, Norman P, Stavroulakis T, Bianchi S, Elliott M, McDermott C & Hobson E (2019) Optimizing the noninvasive ventilation pathway for patients with amyotrophic lateral sclerosis/motor neuron disease: a systematic review. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. View this article in WRRO
Verboon C, Doets AY, Galassi G, Davidson A, Waheed W, Péréon Y, Shahrizaila N, Kusunoki S, Lehmann HC, Harbo T , Monges S et al (2019) Current treatment practice of Guillain-Barré syndrome. Neurology, 93(1), e59-e76.
(2019) ALSUntangled No. 50: Antifungal Therapy. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 20(7-8), 625-629.
Young CA, Ealing J, McDermott C, Williams T, Al-Chalabi A, Majeed T, Burke G, Pinto A, Dick D, Talbot K , Harrower T et al (2019) The relationships between symptoms, disability, perceived health and quality of life in amyotrophic lateral sclerosis/motor neuron disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 20(5-6), 317-327.
Schlüter DK, Holland DP, Mills RJ, McDermott CJ, Williams TL & Young CA (2019) Use of coping strategies in MND/ALS: Association with demographic and disease‐related characteristics. Acta Neurologica Scandinavica, 140(2), 131-139.
Toh C, Keslake A, Harding J, Baster K, Hoggard N, Bigley J, McDermott CJ, Shaw PJ, Wilkinson ID & Jenkins TM (2019) Investigating Directionality of Neurodegeneration in vivo in ALS using Multimodal MRI (P1.4-001). Neurology, 92(15_supplement).
James T, Hobson E, Mupambo N & McDermott C (2019) Monitoring and promoting effectiveness and adherence to non-invasive ventilation in motor neurone disease using EncoreAnywhere telemonitoring: a pilot and feasibility, randomised controlled trial. (P4.4-009). Neurology, 92(15_supplement).
Mistry S, Hosty J, Patil A, McDermott C, Shaw P & Jenkins T (2019) Predicting benign brachial monomelic amyotrophy: factors at presentation that differentiate from amyotrophic lateral sclerosis (P1.4-016). Neurology, 92(15_supplement).
(2019) ALSUntangled no. 49: resveratrol. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 20(7-8), 619-624.
van den Berg LH, Sorenson E, Gronseth G, Macklin EA, Andrews J, Baloh RH, Benatar M, Berry JD, Chio A, Corcia P , Genge A et al (2019) Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials. Neurology. View this article in WRRO
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Moisse M , Robberecht W et al (2019) Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis. Cell Reports, 26(9), 2298-2306.e5. View this article in WRRO
Thurn T, Borasio GD, Chiò A, Galvin M, McDermott CJ, Mora G, Sermeus W, Winkler AS & Anneser J (2019) Physicians’ attitudes toward end-of-life decisions in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 20(1-2), 74-81.
Wolfe GI, Kaminski HJ, Aban IB, Minisman G, Kuo H-C, Marx A, Ströbel P, Mazia C, Oger J, Cea JG , Heckmann JM et al (2019) Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial. The Lancet Neurology, 18(3), 259-268.
Bedlack R (2019) ALSUntangled 46: penicillin G/hydrocortisone. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 20(1-2), 126-131.
Hewamadduma CA, Hoggard N, O'Malley R, Robinson MK, Beauchamp NJ, Segamogaite R, Martindale J, Rodgers T, Rao G, Sarrigiannis P , Shanmugarajah P et al (2018) Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations. Neurology Genetics, 4(6), e279-e279. View this article in WRRO
Judge S, Bloch S & McDermott CJ (2018) Communication change in ALS: engaging people living with ALS and their partners in future research. Disability and Rehabilitation: Assistive Technology. View this article in WRRO
Doets AY, Verboon C, van den Berg B, Harbo T, Cornblath DR, Willison HJ, Islam Z, Attarian S, Barroso FA, Bateman K , Benedetti L et al (2018) Regional variation of Guillain-Barré syndrome. Brain, 141(10), 2866-2877.
(2018) ALSUntangled 43: copper. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 19(5-6), 472-476.
Pancani S, Tindale W, Shaw PJ, Mazzà C & McDermott CJ (2018) Efficacy of the Head Up collar in facilitating functional head movements in patients with Amyotrophic Lateral Sclerosis. Clinical Biomechanics, 57, 114-120. View this article in WRRO
Westeneng H-J, Debray TPA, Visser AE, van Eijk RPA, Rooney JPK, Calvo A, Martin S, McDermott CJ, Thompson AG, Pinto S , Kobeleva X et al (2018) Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. The Lancet Neurology, 17(5), 423-433. View this article in WRRO
(2018) ALSUntangled 45: Antiretrovirals. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 19(7-8), 630-634.
Bedlack R (2018) ALSUntangled 44: curcumin. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 19(7-8), 623-629.
Pierry IA, Alix JJP, Rao DG, Hoggard N, Bigley J, McDermott CJ, Wilkinson ID, Shaw PJ & Jenkins TM (2018) Longitudinal Diffusion-Weighted Whole-Body MRI Demonstrates Dynamic Changes in Muscle Integrity in Motor Neuron Disease. Journal of Neuromuscular Diseases, 5(1), 107-107.
Jenkins T, Alix J, David C, Pearson E, Ganesh Rao D, Hoggard N, O'Brien E, Baster K, Bradburn M, Bigley J , McDermott C et al (2018) Imaging muscle as a potential biomarker of denervation in motor neuron disease. Journal of Neurology, Neurosurgery, and Psychiatry, 89, 248-255. View this article in WRRO
Hobson EV, Baird WO, Partridge R, Cooper CL, Mawson S, Quinn A, Shaw PJ, Walsh T, Wolstenholme D & Mcdermott CJ (2018) The TiM system: developing a novel telehealth service to improve access to specialist care in motor neurone disease using user-centered design. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 19(5-6), 351-361. View this article in WRRO
Langley J, Pancani S, Kilner K, Reed H, Stanton A, Heron N, Judge S, McCarthy A, Baxter S, Mazza C & McDermott C (2018) A comfort assessment of existing cervical orthoses. Ergonomics, 61(2), 329-338. View this article in WRRO
(2018) ALSUntangled 41: “Eric Is Winning”. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 19(1-2), 157-160.
Milinis K, Tennant A, Mills RJ, Al-Chalabi A, Burke G, Dick DJ, Ealing J, Hanemann CO, Harrower T, McDermott CJ , Majeed T et al (2018) Development and validation of Spasticity Index-Amyotrophic Lateral Sclerosis. Acta Neurologica Scandinavica, 138(1), 47-54.
Bedlack R (2018) ALSUntangled 42: Elysium health’s “basis”. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 19(3-4), 317-319.
Hobson E, Musson L & McDermott C (2017) PO198 The value of patient and public involvement in research in motor neurone disease. Journal of Neurology, Neurosurgery & Psychiatry, 88(Suppl 1), A63.4-A64.
Cooper-Knock J, Robins H, Niedermoser I, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M, Ince PG, Hautbergue GM , McDermott CJ et al (2017) Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype. Frontiers in Molecular Neuroscience, 10, 370-370. View this article in WRRO
Al-Chalabi A, Andersen PM, Chandran S, Chio A, Corcia P, Couratier P, Danielsson O, de Carvalho M, Desnuelle C, Grehl T , Grosskreutz J et al (2017) July 2017 ENCALS statement on edaravone. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-4. View this article in WRRO
van Eijk RPA, Jones AR, Sproviero W, Shatunov A, Shaw PJ, Leigh PN, Young CA, Shaw CE, Mora G, Mandrioli J , Borghero G et al (2017) Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.. Neurology. View this article in WRRO
McDermott CJ & Faull C (2017) Withdrawal of tracheostomy ventilation in motor neurone disease: implementing advance directives. Practical Neurology, 17(5), 339-340.
(2017) ALSUntangled 40: Ayahuasca. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18(7-8), 627-631.
Jacobs BC, van den Berg B, Verboon C, Chavada G, Cornblath DR, Gorson KC, Harbo T, Hartung H-P, Hughes RAC, Kusunoki S , van Doorn PA et al (2017) International Guillain-Barré Syndrome Outcome Study: protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome in Guillain-Barré syndrome. Journal of the Peripheral Nervous System, 22(2), 68-76.
Phelps K, Regen E, Oliver D, McDermott C & Faull C (2017) Withdrawal of ventilation at the patient's request in MND: a retrospective exploration of the ethical and legal issues that have arisen for doctors in the UK. BMJ Supportive & Palliative Care, 7(2), 189-196. View this article in WRRO
Oliver D, Radunovic A, Allen A & McDermott C (2017) The development of the UK National Institute of Health and Care Excellence evidence-based clinical guidelines on motor neurone disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18(5-6), 313-323. View this article in WRRO
Baxter SK & McDermott CJ (2017) Decision-making and referral processes for patients with motor neurone disease: a qualitative study of GP experiences and evaluation of a new decision-support tool. BMC Health Services Research, 17. View this article in WRRO
McGeachan AJ & Mcdermott CJ (2017) Management of oral secretions in neurological disease.. Practical Neurology, 17(2), 96-103. View this article in WRRO
(2017) ALSUntangled 39: Acuscope (micro-Amp electrical muscle stimulation). Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18(5-6), 466-469.
Hobson EV, Fazal S, Shaw PJ & McDermott CJ (2017) “Anything that makes life’s journey better.” Exploring the use of digital technology by people living with motor neurone disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18(5-6), 378-387. View this article in WRRO
Gardiner C, McDermott C & Hulme C (2017) Costs of Family Caregiving in Palliative Care (COFAC) questionnaire: development and piloting of a new survey tool.. BMJ Supportive and Palliative Care. View this article in WRRO
Pancani S, Tindale W, Shaw PJ, McDermott CJ & Mazza C (2017) An Objective Functional Characterisation of Head Movement Impairment in Individuals with Neck Muscle Weakness Due to Amyotrophic Lateral Sclerosis. PLoS One. View this article in WRRO
McGeachan AJ, Hobson EV, Al-Chalabi A, Stephenson J, Chandran S, Crawley F, Dick D, Donaghy C, Ellis CM, Gorrie G , Hanemann OC et al (2017) A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis && Frontotemporal Degeneration, 18(1-2), 1-9. View this article in WRRO
Rafiq MK, Bradburn M, Mustfa N, Mcdermott CJ & Annane D (2016) Mechanical cough augmentation techniques in amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database of Systematic Reviews, 2016(12). View this article in WRRO
Stavroulakis T & McDermott CJ (2016) Enteral feeding in neurological disorders. Practical Neurology, 16, 352-361. View this article in WRRO
Pancani S, Tindale W, Shaw PJ, McDermott CJ & Mazzà C (2016) Assessment of coupled movements in head movements performed by patients with Motor Neurone Disease. Gait & Posture, 49, S22-S22.
Hobson EV, Harwood CA, McDermott CJ & Shaw PJ (2016) Clinical aspects of motor neurone disease. Medicine, 44(9), 552-556. View this article in WRRO
Jenkins TM, Alix JJP, Kandler RH, Shaw PJ & McDermott CJ (2016) The role of cranial and thoracic electromyography within diagnostic criteria for amyotrophic lateral sclerosis. Muscle & Nerve, 54(3), 378-385. View this article in WRRO
Hobson EV & McDermott CJ (2016) Supportive and symptomatic management of amyotrophic lateral sclerosis. Nature Reviews Neurology, 12, 526-538. View this article in WRRO
McDermott CJ, Bradburn MJ, Maguire C, Cooper CL, Baird WO, Baxter SK, Cohen J, Cantrill H, Dixon S, Ackroyd R , Baudouin S et al (2016) DiPALS: Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis - a randomised controlled trial.. Health Technol Assess, 20(45), 1-186. View this article in WRRO
Rafiq MK, Lee E, Bradburn M, McDermott CJ & Shaw PJ (2016) Creatine kinase enzyme level correlates positively with serum creatinine and lean body mass, and is a prognostic factor for survival in amyotrophic lateral sclerosis. European Journal of Neurology, 23(6), 1071-1078.
Bury JJ, Highley JR, Cooper‐Knock J, Goodall EF, Higginbottom A, McDermott CJ, Ince PG, Shaw PJ & Kirby J (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, 36(2), 125-134. View this article in WRRO
Janssens AIWA, Ruytings M, Al-Chalabi A, Chio A, Hardiman O, Mcdermott CJ, Meyer T, Mora G, Van Damme P, Van Den Berg LH , Vanhaecht K et al (2016) A mapping review of international guidance on the management and care of amyotrophic lateral sclerosis (ALS). Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(5-6), 325-336.
Hobson EV, Baird W, Cooper C, Mawson S, Shaw P & McDermott C (2016) Using technology to improve access to specialist care in amyotrophic lateral sclerosis: A systematic review. Amyotrophic Lateral Sclerosis && Frontotemporal Degeneration, 17(5-6), 313-324. View this article in WRRO
Harwood CA, Westgate K, Gunstone S, Brage S, Wareham NJ, McDermott CJ & Shaw PJ (2016) Long-term physical activity: an exogenous risk factor for sporadic amyotrophic lateral sclerosis?. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(5-6), 377-384. View this article in WRRO
Baxter SK, Reed H, Clarke Z, Judge S, Heron N, McCarthy A, Langley J, Stanton A, Wells O, Squire G , Quinn A et al (2016) Evaluating a novel cervical orthosis, the Sheffield Support Snood, in patients with amyotrophic lateral sclerosis/motor neuron disease with neck weakness. Amyotrophic Lateral Sclerosis, 17(5-6), 436-442. View this article in WRRO
Rafiq MK, Mcdermott C & Shaw P (2016) Evidence-based or arrogance-based medicine?. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(3-4), 305-306.
Lo C, Barker A, Kershaw H, Hickman SJ & McDermott CJ (2016) Rueing the Roux-en-Y. Practical Neurology, 16(3), 227-230.
Pancani S, Rowson J, Tindale W, Heron N, Langley J, McCarthy AD, Quinn A, Reed H, Stanton A, Shaw PJ , McDermott CJ et al (2016) Assessment of the Sheffield Support Snood, an innovative cervical orthosis designed for people affected by neck muscle weakness. Clinical Biomechanics, 32, 201-206. View this article in WRRO
Stavroulakis T, Baird WO, Baxter SK, Walsh T, Shaw PJ & McDermott CJ (2016) The impact of gastrostomy in motor neurone disease: challenges and benefits from a patient and carer perspective.. BMJ Support Palliat Care, 6(1), 52-59.
McDermott CJ & Stavroulakis T (2015) Gastrostomy in amyotrophic lateral sclerosis: effects of non-invasive ventilation – Authors' reply. The Lancet Neurology, 14(12), 1153-1153.
McDermott C, Bond A, Harris AF, Chittenden N & Thatcher K (2015) Application of hybrid numerical and analytical solutions for the simulation of coupled thermal, hydraulic, mechanical and chemical processes during fluid flow through a fractured rock. Environmental Earth Sciences, 74(12), 7837-7854.
Rafiq MK, Bradburn M, Proctor AR, Billings CG, Bianchi S, McDermott CJ & Shaw PJ (2015) A preliminary randomized trial of the mechanical insufflator-exsufflator versus breath-stacking technique in patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(7-8), 448-455. View this article in WRRO
McDermott C, Shaw P, Cooper C, Dixon S, Baird W, Bradburn M, Fitzgerald P, Maguire C, Williams T, Baudouin S , Karat D et al (2015) Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial. The Lancet Neurology, 14(9), 883-892. View this article in WRRO
Rafiq MK, Lee E, Bradburn M, McDermott CJ & Shaw PJ (2015) Effect of lipid profile on prognosis in the patients with amyotrophic lateral sclerosis: Insights from the olesoxime clinical trial. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(7-8), 478-484. View this article in WRRO
Malaspina A, Mills E, Donaghy C, McLaughlin B, Morrison K, Jew H, Gorrie G, Al-Chalabi A, Chapman S, Dougherty A , Johnson M et al (2015) Gastrostomy in patients with amyotrophic lateral sclerosis (ProGas): a prospective cohort study. The Lancet Neurology, 14(7), 702-709. View this article in WRRO
Raman R, Allen SP, Goodall EF, Kramer S, Ponger L-L, Heath PR, Milo M, Hollinger HC, Walsh T, Highley JR , Olpin S et al (2015) Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions.. Neuropathol Appl Neurobiol, 41(2), 201-226. View this article in WRRO
(2015) Lifeline. The Lancet Neurology, 14(7), 690-690.
Reed H, Langley J, Stanton A, Heron N, Clarke Z, Judge S, McCarthy A, Squire G, Quinn A, Wells O , Tindale W et al (2015) Head-Up; An interdisciplinary, participatory and co-design process informing the development of a novel head and neck support for people living with progressive neck muscle weakness. Journal of Medical Engineering & Technology, 39(7), 404-410.
McGeachan AJ, Hobson EV, Shaw PJ & McDermott CJ (2015) Developing an outcome measure for excessive saliva management in MND and an evaluation of saliva burden in Sheffield. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(1-2), 108-113. View this article in WRRO
Highley JR, Kirby J, Jansweijer JA, Webb PS, Hewamadduma CA, Heath PR, Higginbottom A, Raman R, Ferraiuolo L, Cooper-Knock J , McDermott CJ et al (2014) Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.. Neuropathol Appl Neurobiol, 40(6), 670-685.
Jenkins TM, Hollinger H & McDermott CJ (2014) The evidence for symptomatic treatments in amyotrophic lateral sclerosis. Current Opinion in Neurology, 27(5), 524-531.
Faull C, Phelps K, Regen E, Rowe-Haynes C, Oliver D & McDermott C (2014) WITHDRAWAL OF VENTILATION AT THE PATIENT'S REQUEST IN MND: DOCTORS VIEWS ON THE ETHICAL CHALLENGES INVOLVED. BMJ Supportive & Palliative Care, 4(Suppl 1), A39.1-A39.
Faull C, Phelps K, Regen E, Oilver D, Mcdermott C & Rowe-Haynes C (2014) WITHDRAWAL OF NIV AT THE PATIENT'S REQUEST IN MND: EXPLORATION OF THE ISSUES RELATED TO COMMUNICATION. BMJ Supportive & Palliative Care, 4(Suppl 1), A25.1-A25.
Stavroulakis T, Baird WO, Baxter SK, Walsh T, Shaw PJ & McDermott CJ (2014) Factors influencing decision-making in relation to timing of gastrostomy insertion in patients with motor neurone disease.. BMJ Support Palliat Care, 4(1), 57-63.
Gallagher MD, Suh E, Grossman M, Elman L, McCluskey L, Van Swieten JC, Al-Sarraj S, Neumann M, Gelpi E, Ghetti B , Rohrer JD et al (2014) TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.. Acta Neuropathol, 127(3), 407-418. View this article in WRRO
Da Costa MMJ, Allen CE, Higginbottom A, Ramesh T, Shaw PJ & McDermott CJ (2014) A new zebrafish model produced by TILLING of SOD1-related amyotrophic lateral sclerosis replicates key features of the disease and represents a tool for in vivo therapeutic screening.. Dis Model Mech, 7(1), 73-81.
Baxter SK, Baird WO, Thompson S, Bianchi SM, Walters SJ, Lee E, Ahmedzai SH, Proctor A, Shaw PJ & McDermott CJ (2013) The impact on the family carer of motor neurone disease and intervention with noninvasive ventilation.. J Palliat Med, 16(12), 1602-1609.
Baxter SK, Baird WO, Thompson S, Bianchi SM, Walters SJ, Lee E, Ahmedzai SH, Proctor A, Shaw PJ & McDermott CJ (2013) Use of non-invasive ventilation at end of life.. Palliat Med, 27(9), 878.
Hickman SJ, Allen JA, Baisre A, Batty R, Lari HB, Melen O, Pepper IM, Sarrigiannis PG, Turbin RE, Wharton SB & McDermott CJ (2013) Neuro-ophthalmological complications of chronic inflammatory demyelinating polyradiculoneuropathy. Neuro-Ophthalmology, 37(4), 146-156.
Cooper-Knock J, Frolov A, Highley JR, Charlesworth G, Kirby J, Milano A, Hartley J, Ince PG, McDermott CJ, Lashley T , Revesz T et al (2013) C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.. Neurology, 81(9), 808-811.
Jenkins TM, Burness C, Connolly DJ, Rao DG, Hoggard N, Mawson S, McDermott CJ, Wilkinson ID & Shaw PJ (2013) A prospective pilot study measuring muscle volumetric change in amyotrophic lateral sclerosis.. Amyotroph Lateral Scler Frontotemporal Degener, 14(5-6), 414-423. View this article in WRRO
Hobson EV, McGeachan A, Al-Chalabi A, Chandran S, Crawley F, Dick D, Donaghy C, Ealing J, Ellis CM, Gorrie G , Hanemann CO et al (2013) Management of sialorrhoea in motor neuron disease: a survey of current UK practice.. Amyotroph Lateral Scler Frontotemporal Degener, 14(7-8), 521-527.
Al-Chalabi A, Allen C, Counsell C, Farrin A, Dickie B, Kelly J, Leigh PN, Murphy CL, Payan C, Reynolds G , Shaw P et al (2013) Lithium in patients with amyotrophic lateral sclerosis (LiCALS): A phase 3 multicentre, randomised, double-blind, placebo-controlled trial. The Lancet Neurology, 12(4), 339-345.
Baxter SK, Baird WO, Thompson S, Bianchi SM, Walters SJ, Lee E, Ahmedzai SH, Proctor A, Shaw PJ & McDermott CJ (2013) The use of non-invasive ventilation at end of life in patients with motor neurone disease: a qualitative exploration of family carer and health professional experiences.. Palliat Med, 27(6), 516-523. View this article in WRRO
Kirby J, Highley JR, Cox L, Goodall EF, Hewitt C, Hartley JA, Hollinger HC, Fox M, Ince PG, McDermott CJ & Shaw PJ (2013) Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation.. Neuropathol Appl Neurobiol, 39(5), 562-571. View this article in WRRO
Ismail A, Cooper-Knock J, Highley JR, Milano A, Kirby J, Goodall E, Lowe J, Scott I, Constantinescu CS, Walters SJ , Price S et al (2013) Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.. J Neurol Neurosurg Psychiatry, 84(1), 79-87.
Stavroulakis T, Walsh T, Shaw PJ, McDermott CJ & Progas Study (2013) Gastrostomy use in motor neurone disease (MND): a review, meta-analysis and survey of current practice.. Amyotroph Lateral Scler Frontotemporal Degener, 14(2), 96-104.
Baxter SK, Baird WO, Thompson S, Bianchi SM, Walters SJ, Lee E, Ahmedzai SH, Proctor A, Shaw PJ & McDermott CJ (2013) The initiation of non-invasive ventilation for patients with motor neuron disease: patient and carer perceptions of obstacles and outcomes.. Amyotroph Lateral Scler Frontotemporal Degener, 14(2), 105-110.
Aridegbe T, Kandler R, Walters SJ, Walsh T, Shaw PJ & McDermott CJ (2013) The natural history of motor neuron disease: assessing the impact of specialist care.. Amyotroph Lateral Scler Frontotemporal Degener, 14(1), 13-19.
Rafiq MK, Bradburn M, Proctor AR, Billings C, Bianchi S, McDermott CJ & Shaw PJ (2012) Using transcutaneous carbon dioxide monitor (TOSCA 500) to detect respiratory failure in patients with amyotrophic lateral sclerosis: a validation study.. Amyotroph Lateral Scler, 13(6), 528-532.
Rafiq MK, Proctor AR, McDermott CJ & Shaw PJ (2012) Respiratory management of motor neurone disease: a review of current practice and new developments.. Pract Neurol, 12(3), 166-176.
Hughes P, Seymour L, Hollinger H, Evans J, McDermott C & Shaw P (2012) Complementary therapies for people with motor neurone disease: extending a cancer care service. BMJ Supportive & Palliative Care, 2(Suppl 1), A102.3-A103.
Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C , Baxter L et al (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.. Brain, 135(Pt 3), 751-764.
Harwood CA, McDermott CJ & Shaw PJ (2012) Clinical aspects of motor neurone disease. Medicine (United Kingdom), 40(10), 540-545.
McDermott CJ, Maguire C, Cooper CL, Ackroyd R, Baird WO, Baudouin S, Bentley A, Bianchi S, Bourke S, Bradburn MJ , Dixon S et al (2012) Protocol for diaphragm pacing in patients with respiratory muscle weakness due to motor neurone disease (DiPALS): a randomised controlled trial.. BMC Neurol, 12, 74. View this article in WRRO
Bourke SC, O'Neill CL, Williams TL, Peel ET, Gibson GJ, McDermott CJ & Shaw PJ (2012) The changing landscape of non-invasive ventilation in amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery & Psychiatry, 83(4), 368-369.
O'Neill CL, Williams TL, Peel ET, McDermott CJ, Shaw PJ, Gibson GJ & Bourke SC (2012) Non-invasive ventilation in motor neuron disease: An update of current UK practice. Journal of Neurology, Neurosurgery and Psychiatry, 83(4), 371-376.
O'Neill CL, Williams TL, Peel ET, McDermott CJ, Shaw PJ, Gibson GJ & Bourke SC (2012) Non-invasive ventilation in motor neuron disease: an update of current UK practice.. J Neurol Neurosurg Psychiatry, 83(4), 371-376.
Ismail A, Sharrack B, Constantinescu C, McDermott C & Shaw P (2011) Multiple sclerosis and amyotrophic lateral sclerosis - what is the link? A case series of six patients. MULTIPLE SCLEROSIS JOURNAL, 17, S472-S472.
Al-Chalabi A, Shaw PJ, Young CA, Morrison KE, Murphy C, Thornhill M, Kelly J, Steen IN & Leigh PN (2011) Protocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic Lateral Sclerosis (LiCALS) [Eudract number: 2008-006891-31].. BMC Neurology, 11. View this article in WRRO
Nicholl DJ, Hilton-Jones D, Palace J, Richmond S, Finlayson S, Winer J, Weir A, Maddison P, Fletcher N, Sussman J , Silver N et al (2010) Orphan Drugs Open letter to prime minister David Cameron and health secretary Andrew Lansley. BRIT MED J, 341.
O'Neill C, Williams TL, Peel ET, McDermott CJ, Shaw PJ, Gibson GJ & Bourke SC (2010) Non-invasive ventilation in motor neurone disease: an update of current UK practice. IRISH J MED SCI, 179, S497-S498.
Besson H, Harwood CA, Ekelund U, Finucane FM, McDermott CJ, Shaw PJ & Wareham NJ (2010) Validation of the historical adulthood physical activity questionnaire (HAPAQ) against objective measurements of physical activity. INT J BEHAV NUTR PHY, 7. View this article in WRRO
Chavada G, El-Nayal A, Lee F, Webber SJ, McAlindon M, Walsh T, Hollinger H, McDermott CJ & Shaw PJ (2010) Evaluation of two different methods for per-oral gastrostomy tube placement in patients with motor neuron disease (MND): PIG versus PEG procedures.. Amyotroph Lateral Scler, 11(6), 531-536.
Douglass CP, Kandler RH, Shaw PJ & McDermott CJ (2010) An evaluation of neurophysiological criteria used in the diagnosis of motor neuron disease.. J Neurol Neurosurg Psychiatry, 81(6), 646-649.
Kirby J, Goodall EF, Smith W, Highley JR, Masanzu R, Hartley JA, Hibberd R, Hollinger HC, Wharton SB, Morrison KE , Ince PG et al (2010) Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.. Neurogenetics, 11(2), 217-225. View this article in WRRO
Hewitt C, Kirby J, Highley JR, Hartley JA, Hibberd R, Hollinger HC, Williams TL, Ince PG, McDermott CJ & Shaw PJ (2010) Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.. Arch Neurol, 67(4), 455-461.
Douglass C & McDermott CJ (2009) Assessment and Diagnosis of Sensory Disturbance. InnovAiT: Education and inspiration for general practice, 2(9), 531-537.
Harwood CA, McDermott CJ & Shaw PJ (2009) Physical activity as an exogenous risk factor in motor neuron disease (MND): a review of the evidence.. Amyotroph Lateral Scler, 10(4), 191-204.
(2009) Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology, 72(17), 1534-1534.
Hewamadduma C, McDermott C, Kirby J, Grierson A, Panayi M, Dalton A, Rajabally Y & Shaw P (2009) New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).. Neurogenetics, 10(2), 105-110.
(2009) Randomised controlled trial of methotrexate for chronic inflammatory demyelinating polyradiculoneuropathy (RMC trial): a pilot, multicentre study. The Lancet Neurology, 8(2), 158-164.
Kasher PR, De Vos KJ, Wharton SB, Manser C, Bennett EJ, Bingley M, Wood JD, Milner R, McDermott CJ, Miller CCJ , Shaw PJ et al (2009) Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.. J Neurochem, 110(1), 34-44.
Hewamadduma CAA, Kirby J, Kershaw C, Martindale J, Dalton A, McDermott CJ & Shaw PJ (2008) HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier.. Neurology, 70(19), 1717-1718.
Georgala MN, Chattopadhyay AK & McDermott CJ (2008) P159 Clinical and neurophysiological diagnostic features of hereditary neuropathy with liability to pressure palsies (HNPP) among patients with multiple neuropathies at common entrapment sites. Clinical Neurophysiology, 119, S111-S111.
McDermott CJ & Shaw PJ (2008) Diagnosis and management of motor neurone disease.. BMJ, 336(7645), 658-662.
Moore C, McDermott CJ & Shaw PJ (2008) Clinical aspects of motor neurone disease. Medicine, 36(12), 640-645.
Beetz C, Zuchner S, AshleyKoch A, Auer-Grumbach M, Byrne P, Chinnery PF, Hutchinson M, McDermott CJ, Meijer IA, Nygren AOH , Pericak-Vance M et al (2007) Linkage to a known gene but no mutation identified: Comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. HUM MUTAT, 28(7), 739-740.
McDermott CJ & Shaw PJ (2007) Chapter 17 Hereditary spastic paraparesis. Handbook of Clinical Neurology, 82, 327-352.
Wood JD, Landers JA, Bingley M, McDermott CJ, Thomas-McArthur V, Gleadall LJ, Shaw PJ & Cunliffe VT (2006) The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo.. Hum Mol Genet, 15(18), 2763-2771.
McDermott CJ & Shima JS (2006) Ontogenetic shifts in microhabitat preference of the temperate reef fish Forsterygion lapillum: implications for population limitation. Marine Ecology Progress Series, 320, 259-266.
McDermott CJ, Burness CE, Kirby J, Cox LE, Rao DG, Hewamadduma C, Sharrack B, Hadjivassiliou M, Chinnery PF, Dalton A , Shaw PJ et al (2006) Clinical features of hereditary spastic paraplegia due to spastin mutation.. Neurology, 67(1), 45-51.
McDermott CJ & Shaw PJ (2003) Chapter 18 Hereditary Spastic Paraparesis, 435-462.
McDermott CJ, Grierson AJ, Wood JD, Bingley M, Wharton SB, Bushby KMD & Shaw PJ (2003) Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.. Ann Neurol, 54(6), 748-759.
Wharton SB, McDermott CJ, Grierson AJ, Wood JD, Gelsthorpe C, Ince PG & Shaw PJ (2003) The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene.. J Neuropathol Exp Neurol, 62(11), 1166-1177.
McDermott CJ, Roberts D, Tomkins J, Bushby KM & Shaw PJ (2003) Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND).. Amyotroph Lateral Scler Other Motor Neuron Disord, 4(2), 96-99.
McDermott C, Roberts D, Tomkins J, Bushby K & Shaw P (2003) Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND). Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 4(2), 96-99.
McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KMD, Turnbull DM & Shaw PJ (2003) Investigation of mitochondrial function in hereditary spastic paraparesis.. Neuroreport, 14(3), 485-488.
McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KMD, Turnbull DM & Shaw PJ (2002) Investigation of mitochondrial function in hereditary spastic paraparesis. J NEUROL NEUROSUR PS, 73(2), 233-233.
McDermott CJ & Shaw PJ (2002) Hereditary spastic paraplegia.. Int Rev Neurobiol, 53, 191-204.
Tomkins J, Banner SJ, McDermott CJ & Shaw PJ (2001) Mutation screening of manganese superoxide dismutase in amyotrophic lateral sclerosis.. Neuroreport, 12(11), 2319-2322.
McDermott CJ, Dayaratne RK, Tomkins J, Lusher ME, Lindsey JC, Johnson MA, Casari G, Turnbull DM, Bushby K & Shaw PJ (2001) Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.. Neurology, 56(4), 467-471.
McDermott CJ, White K, Lindsey JC, Lusher ME, Bushby KMD & Shaw PJ (2001) Genotype-phenotype correlation in hereditary spastic paraparesis. J NEUROL NEUROSUR PS, 70(2), 270-270.
Lindsey JC, Lusher ME, McDermott CJ, White KD, Reid E, Rubinsztein DC, Bashir R, Hazan J, Shaw PJ & Bushby KM (2000) Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.. J Med Genet, 37(10), 759-765.
McDermott C, White K, Bushby K & Shaw P (2000) Hereditary spastic paraparesis: a review of new developments.. J Neurol Neurosurg Psychiatry, 69(2), 150-160.
Benatar M, McDermott C, Turner MR & van Eijk RPA () Rethinking phase 2 trials in amyotrophic lateral sclerosis. Brain.
Allen S, Howard J, Mcdermott CJ, Boardman F & Mcneill A () Neurologists’ understanding of reproductive medicine options for genetic forms of motor neuron disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-12.
Li X, Wicks P, Brown A, Shivaprasad A, Greene M, Crayle J, Barnes B, Jhooty S, Ratner D, Olby N , Glass JD et al () ALSUntangled #76: Wahls protocol. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-5.
Knox L, Coates E, Griffiths A, Ali Y, Hobson E & McDermott C () Development and Evaluation of the Telehealth in Motor Neuron Disease System: The TIME Study Protocol. JMIR Research Protocols, 13, e57685-e57685.
Roscoe SA, Allen SP, McDermott CJ & Stavroulakis T () Mapping the Evidence for Measuring Energy Expenditure and Indicating Hypermetabolism in Motor Neuron Disease: A Scoping Review. Nutrition Reviews.
Arends S, Drenthen J, de Koning L, van den Bergh P, Hadden RDM, Kuwabara S, Reisin RC, Shahrizaila N, Ajroud‐Driss S, Antonini G , Attarian S et al () Electrodiagnostic subtyping in Guillain–Barré syndrome patients in the International Guillain–Barré Outcome Study. European Journal of Neurology.
Rooney J, Murray D, Meldrum D, Al-Chalabi A, Bunte T, Chiwera T, Choudhury M, Chio A, Fenton L, Fortune J , Maidment L et al () REVEALS—a longitudinal cohort study of multifaceted respiratory assessment in ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-11.
Tappenden P, Hardiman O, Kwon S-H, Mon-Yee M, Galvin M & McDermott C () A Model-Based Economic Evaluation of Hypothetical Treatments for Amyotrophic Lateral Sclerosis in the UK: Implications for Pricing of New and Emerging Health Technologies. PharmacoEconomics.
Officer L, Armon C, Barkhaus P, Beauchamp M, Benatar M, Bertorini T, Bowser R, Bromberg M, Brown A, Carbunar OM , Carter GT et al () ALSUntangled #75: Portable neuromodulation stimulator therapy. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-5.
Van Damme P, Al‐Chalabi A, Andersen PM, Chiò A, Couratier P, De Carvalho M, Hardiman O, Kuźma‐Kozakiewicz M, Ludolph A, McDermott CJ , Mora JS et al () European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERNEURO‐NMD). European Journal of Neurology.
Young CA, Chaouch A, Mcdermott CJ, Al-Chalabi A, Chhetri SK, Talbot K, Harrower T, Orrell RW, Annadale J, Hanemann OC , Scalfari A et al () Dyspnea (breathlessness) in amyotrophic lateral sclerosis/motor neuron disease: prevalence, progression, severity, and correlates. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-11.
Howard J, Bekker HL, McDermott CJ & McNeill A () Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service. Journal of Medical Genetics.
Young CA, Chaouch A, Mcdermott CJ, Al-Chalabi A, Chhetri SK, Talbot K, Malaspina A, Mills R & Tennant A () Improving the measurement properties of the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R): deriving a valid measurement total for the calculation of change. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-10.
Genge A, Cedarbaum JM, Shefner J, Chio A, Al-Chalabi A, Van Damme P, McDermott C, Glass J, Berry J, van Eijk RPA , Fournier C et al () The ALSFRS-R Summit: a global call to action on the use of the ALSFRS-R in ALS clinical trials. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-6.
White S, O’Cathain A, Halliday V, Bradburn M & McDermott CJ () Supporting people with Motor Neuron Disease (MND) to make decisions about gastrostomy feeding tube placement: a survey of UK healthcare professionals’ practice and beliefs. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-9.
Jhooty S, Barkhaus P, Brown A, Mascias Cadavid J, Carter GT, Crayle J, Heiman-Patterson T, Li X, Mallon E, Mcdermott C , Mushannen T et al () ALSUntangled #74: Withania Somnifera (Ashwagandha). Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-4.
Howard J, Bekker HL, Mcdermott CJ & Mcneill A () A report of resources used by clinicians in the UK to support motor neuron disease genomic testing. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-3.
Muhana M, Lund I, Bromberg M, Wicks P, Benatar M, Barnes B, Pierce K, Ratner D, Brown A, Bertorini T , Barkhaus P et al () ALSUntangled #73: Lion’s Mane. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-4.
Lombardo FL, Spila Alegiani S, Mayer F, Cipriani M, Lo Giudice M, Ludolph AC, McDermott CJ, Corcia P, Van Damme P, Van den Berg LH , Hardiman O et al () A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial. Trials, 24(1), 792.
Brown A, Armon C, Barkhaus P, Beauchamp M, Bertorini T, Bromberg M, Cadavid JM, Carter GT, Crayle J, Feldman EL , Heiman-Patterson T et al () ALSUntangled #72: Insulin. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-4.
Goyal NA, Bonar K, Savic N, Beau Lejdstrom R, Wright J, Mellor J & Mcdermott C () Misdiagnosis of amyotrophic lateral sclerosis in clinical practice in Europe and the USA: a patient chart review and physician survey. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-10.
Conroy E, Vélez-Gómez B, O’Brien D, Heverin M, Hardiman O, Mcdermott C & Galvin M () IMPACT-ALS: summary of results from a European survey of people living with ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-10.
Ludolph A, Dupuis L, Kasarskis E, Steyn F, Ngo S & McDermott C () Nutritional and metabolic factors in amyotrophic lateral sclerosis. Nature Reviews Neurology.
Wheelwright S, Maunsell R, Taylor S, Drinkwater N, Erridge C, Foster C, Hardcastle M, Hogden A, Lawson I, Lisiecka D , Mcdermott C et al () Development of ‘gastrostomy tube – is it for me?’, a web-based patient decision aid for people living with motor neurone disease considering having a gastrostomy tube placed. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-9.
Hatch J, Barkhaus P, Barnes B, Beauchamp M, Benatar M, Bertorini T, Bowser R, Bromberg M, Brown A, Mascias Cadavid J , Carter GT et al () ALSUntangled #70: caffeine. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-5.
White S, O'Cathain A, Halliday V, Croot L & McDermott CJ () Factors influencing decisions people with motor neuron disease make about gastrostomy placement and ventilation: a qualitative evidence synthesis. Health Expectations.
McFarlane R, Galvin M, Heverin M, Mac Domhnaill É, Murray D, Meldrum D, Bede P, Bolger A, Hederman L, Impey S , Stephens G et al () PRECISION ALS—an integrated pan European patient data platform for ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-5.
Gwathmey KG, Corcia P, McDermott CJ, Genge A, Sennfält S, de Carvalho M & Ingre C () Diagnostic delay in amyotrophic lateral sclerosis. European Journal of Neurology.
Fullam T, Armon C, Barkhaus P, Barnes B, Beauchamp M, Benatar M, Bertorini T, Bowser R, Bromberg M, Mascias Cadavid J , Carter GT et al () ALSUntangled # 69: astaxanthin. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-5.
Musson LS, Baxter SK, Norman P, O'Brien D, Elliott M, Bianchi S, Kaltsakas G, McDermott CJ, Stavroulakis T & Hobson EV () Delivery of non-invasive ventilation to people living with motor neuron disease in the UK. ERJ Open Research, 00388-2022.
Alix JJP, Plesia M, Schooling CN, Dudgeon AP, Kendall CA, Kadirkamanathan V, McDermott CJ, Gorman GS, Taylor RW, Mead RJ , Shaw PJ et al () Non‐negative matrix factorisation of Raman spectra finds common patterns relating to neuromuscular disease across differing equipment configurations, preclinical models and human tissue. Journal of Raman Spectroscopy.
Sun Y, Barkhaus P, Barnes B, Beauchamp M, Benatar M, Bertorini T, Bromberg M, Carter GT, Crayle J, Cudkowicz M , Dimachkie M et al () ALSUntangled #68: ozone therapy. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-5.
Albanese A, Ludolph AC, McDermott CJ, Corcia P, Van Damme P, Van den Berg LH, Hardiman O, Rinaldi G, Vanacore N & Dickie B () Tauroursodeoxycholic acid in patients with amyotrophic lateral sclerosis: The TUDCA-ALS trial protocol. Frontiers in Neurology, 13.
Li X, Armon C, Barkhaus P, Barnes B, Benatar M, Bertorini T, Bromberg M, Carter GT, Crayle J, Cudkowicz M , Dimachkie M et al () ALSUntangled #67: rituximab. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-4.
Young CA, Ealing J, McDermott CJ, Williams TL, Al-Chalabi A, Majeed T, Talbot K, Harrower T, Faull C, Malaspina A , Annadale J et al () Prevalence of depression in amyotrophic lateral sclerosis/motor neuron disease: multi-attribute ascertainment and trajectories over 30 months. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-9.
Goslinga JA, Terrelonge M, Bedlack R, Barkhaus P, Barnes B, Bertorini T, Bromberg M, Carter G, Chen A, Crayle J , Dimachkie M et al () ALSUntangled #65: glucocorticoid corticosteroids. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-7.
Pierce ES, Barkhaus P, Beauchamp M, Bromberg M, Carter GT, Goslinga J, Greeley D, Kihuwa-Mani S, Levitsky G, Lund I , McDermott C et al () ALSUntangled #66: antimycobacterial antibiotics.. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-5.
Young CA, Ealing J, McDermott CJ, Williams TL, Al-Chalabi A, Majeed T, Talbot K, Harrower T, Faull C, Malaspina A , Annadale J et al () Measuring disability in amyotrophic lateral sclerosis/motor neuron disease: the WHODAS 2.0-36, WHODAS 2.0-32, and WHODAS 2.0-12. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-8.
Soreny C, Takhar P, Vickers E, Bartlett R, Coates E, Stavroulakis T, Fox E, Davidson H, Harrison A & McDermott C () Co-design of digital learning resources for care workers: reflections on the Neurocare Knowhow project. Journal of Medical Engineering & Technology, 1-9.
Helleman J, Johnson B, Holdom C, Hobson E, Murray D, Steyn FJ, Ngo ST, Henders A, Lokeshappa MB, Visser-Meily JMA , van den Berg LH et al () Patient perspectives on digital healthcare technology in care and clinical trials for motor neuron disease: an international survey. Journal of Neurology.
Boddy S, Islam M, Moll T, Kurz J, Burrows D, McGown A, Bhargava A, Julian TH, Harvey C, Marshall JNG , Hall BPC et al () Unbiased metabolome screen leads to personalised medicine strategy for amyotrophic lateral sclerosis. Brain Communications.
Knox L, McDermott C & Hobson E () Telehealth in long-term neurological conditions: the potential, the challenges and the key recommendations. Journal of Medical Engineering & Technology, 1-12.
Musson LS, Collins A, Opie-Martin S, Bredin A, Hobson EV, Barkhouse E, Coulson MC, Stavroulakis T, Gould RL, Al-Chalabi A & McDermott CJ () Impact of the covid-19 pandemic on amyotrophic lateral sclerosis care in the UK. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-9.
Kliest T, Van Eijk RPA, Al-Chalabi A, Albanese A, Andersen PM, Amador MDM, BrÅthen G, Brunaud-Danel V, Brylev L, Camu W , De Carvalho M et al () Clinical trials in pediatric ALS: a TRICALS feasibility study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-8.
Thompson AG, Gray E, Verber N, Bobeva Y, Lombardi V, Shepheard SR, Yildiz O, Feneberg E, Farrimond L, Dharmadasa T , Gray P et al () Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain. Brain Communications.
Burchardt JM, Mei XW, Ranger T, McDermott CJ, Radunovic A, Coupland C & Hippisley-Cox J () Analysis of incidence of motor neuron disease in England 1998–2019: use of three linked datasets. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-9.
Julian TH, Boddy S, Islam M, Kurz J, Whittaker KJ, Moll T, Harvey C, Zhang S, Snyder MP, McDermott C , Cooper-Knock J et al () A review of Mendelian randomization in amyotrophic lateral sclerosis. Brain.
Young C, Ealing J, McDermott C, Williams T, Al-Chalabi A, Majeed T, Roberts R, Mills R & Tennant A () Fatigue and anxiety mediate the effect of dyspnea on quality of life in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-9.
Schooling CN, Healey TJ, McDonough HE, French SJ, McDermott CJ, Shaw PJ, Kadirkamanathan V & Alix JJP () Tensor electrical impedance myography identifies clinically relevant features in amyotrophic lateral sclerosis. Physiological Measurement.
van Eijk RPA, Nikolakopoulos S, Roes KCB, Kendall L, Han SS, Lavrov A, Epstein N, Kliest T, de Jongh AD, Westeneng H-J , Al-Chalabi A et al () Challenging the Established Order: Innovating Clinical Trials for Amyotrophic Lateral Sclerosis. Neurology, 10.1212/WNL.0000000000012545-10.1212/WNL.000000000.
Bedlack R, Barkhaus P, Carter G, Crayle J, Mcdermott C, Pattee G, Polak M, Salmon K & Wicks P () ALSUntangled #62: vitamin C. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-4.
White S, Zarotti N, Beever D, Bradburn M, Norman P, Coates E, Stavroulakis T, White D, McGeachan A, Williams I , Hackney G et al () The nutritional management of people living with Amyotrophic Lateral Sclerosis (ALS): A national survey of dietitians. Journal of Human Nutrition and Dietetics.
Bedlack R, Barkhaus P, Barnes B, Bereman M, Bertorini T, Carter G, Crayle J, Kihuwa-Mani S, Bowser R, Kittrell P , McDermott C et al () ALSUntangled #60: light therapy. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-5.
Kiernan MC, Vucic S, Talbot K, McDermott CJ, Hardiman O, Shefner JM, Al-Chalabi A, Huynh W, Cudkowicz M, Talman P , Van den Berg LH et al () Improving clinical trial outcomes in amyotrophic lateral sclerosis. Nature Reviews Neurology.
McDermott CJ () The stage is set for a new trial end point in ALS. Journal of Neurology, Neurosurgery & Psychiatry.
Young CA, Mills R, Al-Chalabi A, Burke G, Chandran S, Dick DJ, Ealing J, Hanemann CO, Harrower T, Mcdermott CJ , Majeed T et al () Measuring quality of life in ALS/MND: validation of the WHOQOL-BREF. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-9.
Maguire C, McDermott C, Hind D, Radunovic A & Shaw PJ () Diaphragm pacing systems for amyotrophic lateral sclerosis / motor neuron disease. Cochrane Database of Systematic Reviews.
Jenkins TM, Alix JJP, Fingret J, Esmail T, Hoggard N, Baster K, McDermott CJ, Wilkinson ID & Shaw PJ () Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease. Journal of Neurology. View this article in WRRO
Musson LS, McDermott CJ & Hobson EV () Exploring patient and public involvement in motor neuron disease research. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. View this article in WRRO
Weeks K, Gould R, McDermott C, Lynch J, Goldstein L, Graham C, McCracken L, Serfaty M, Howard R, Al-Chalabi A , White D et al () Needs and preferences for psychological interventions of people with motor neuron disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. View this article in WRRO
Sproson L, Lanfranchi V, Collins A, Chhetri SK, Daly N, Ennis M, Glennon L, Gorrie G, Jay E, Marsden R , McCarthy AD et al () Fit for purpose? A cross-sectional study to evaluate the acceptability and usability of HeadUp, a novel neck support collar for neurological neck weakness. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-8.
Sassani M, Alix J, McDermott C, Baster K, Hoggard N, Wild J, Mortiboys H, Shaw P, Wilkinson I & Jenkins T () Magnetic resonance spectroscopy reveals mitochondrial dysfunction in amyotrophic lateral sclerosis. Brain.
McDermott C () ALSUntangled #61: melatonin. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-4.
Alix JJP, Plesia M, Lloyd GR, Dudgeon AP, Kendall CA, McDermott CJ, Gorman GS, Taylor RW, Shaw PJ & Day JC () The application of Raman spectroscopy to the diagnosis of mitochondrial muscle disease: A preliminary comparison between fibre optic probe and microscope formats. Journal of Raman Spectroscopy.
Coates E, Zarotti N, Williams I, White S, Halliday V, Beever D, Hackney G, Stavroulakis T, White D, Norman P & McDermott C () Patient, carer and healthcare professional perspectives on increasing calorie intake in Amyotrophic Lateral Sclerosis. Chronic Illness.

Chapters

Oliver D & McDermott C (2021) Public Policy in MND Care: The United Kingdom, Public Policy in ALS/MND Care (pp. 279-300). Springer Singapore
Stavroulakis T & McDermott CJ (2017) Nutritional Support in Amyotrophic Lateral Sclerosis, Nutrition in Neurologic Disorders (pp. 91-104). Springer International Publishing

Conference proceedings papers

Katz JS, Vu T, Chio A, McDermott C, Devos D, Johnston M, Sierra R, Tansy A, Trimmer J & Shefner JM (2024) CARDINALS: A Phase 2, Randomized, Double-blind, Placebo-controlled, Parallel-group Study to Evaluate the Efficacy and Safety of Utreloxastat (PTC857) in Patients with Amyotrophic Lateral Sclerosis (P5-11.010). Neurology, Vol. 102(17_supplement_1)
Wheelwright S, Maunsell R, Taylor S, Drinkwater N, Erridge C, Foster C, Hardcastle M, Hogden A, Lawson I, Lisiecka D , McDermott C et al (2023) 20 Co-production and pilot testing a web-based decision aid to support people with motor neurone disease considering a gastrostomy tube (DiAMoND Study). Free Papers 18–20: Non-Malignant Disease
Islam M, Boddy S, Cooper-Knock J & McDermott C (2023) Discovering disease specific metabolites in Amyotrophic Lateral Sclerosis (ALS): new direction to personalised medicine?. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 30 (pp 51-52)
White S, Zarotti N, Beever D, Bradburn M, Norman P, Coates E, Stavroulakis T, White D, McGeachan A, Williams IA , Hackney G et al (2022) The nutritional management of people living with Amyotrophic Lateral Sclerosis (ALS): a cross-sectional survey of UK dietitians’. Clinical Nutrition ESPEN, Vol. 48 (pp 510-510). Brighton, UK, 30 November 2021 - 1 December 2021. View this article in WRRO
Beever D, Quinn A, Baird O, White S, Brading L, Hackney G & McDermott C (2022) CLT-38 Enabling effective public involvement: a case study of involvement in the HighCALS research programme. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 22(suppl 2) (pp 171-171). Virtual, 7 December 2021 - 10 December 2021. View this article in WRRO
White S, Baird O, Beever D, Brading L, Coates E, Hackney G, Hartley H, Quinn A, Stavroulakis T, White D , Norman P et al (2021) CMS-55 Development of the OptiCALS nutritional support intervention for people with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 22(sup2) (pp 232-233). Virtual conference, 7 December 2021 - 10 December 2021. View this article in WRRO
Stenson K, Bucelli R, McDermott C, Wong J, Tsao N, Fradette S, Bhaloo J, Aggarwal J & O'Callaghan L (2021) Understanding Clinical Heterogeneity in Amyotrophic Lateral Sclerosis (ALS) - A Systematic Literature Review. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 28 (pp 398-399)
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Shaw C, Al-Chalabi A, McDermott C, Hautbergue G & Shaw P (2019) 11.30 Mutations in the glycosyltransferase domain of GLT8D1 cause ALS. Journal of Neurology Neurosurgery & Psychiatry, Vol. 90(12) (pp e10)
Toh CL, Keslake A, Harding J, Baster K, Hoggard N, Bigley J, McDermott CJ, Shaw PJ, Wilkinson ID & Jenkins TM (2019) 222 Investigating directionality of neurodegeneration in vivo in ALS using multimodal MRI. Journal of Neurology Neurosurgery & Psychiatry, Vol. 90(12) (pp e55)
Williams I, Norman P, Essat M, Archer R, Coates E, Zarotti N, Clowes M, Beever D, Hackney G, White S , Stavroulakis T et al (2019) RNM-03 Factors associated with oral nutritional behaviours in people with motor neuron disease: a systematic review. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 20(suppl 1) (pp 310-310). Perth, Australia, 4 December 2019 - 6 December 2019. View this article in WRRO
Mistry S, Hosty J, Patil A, McDermott C, Shaw P & Jenkins TM (2019) Defining benign brachial monomelic amyotrophy: factors at presentation that differentiate from motor neurone disease. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 26 (pp 307-307)
James T, Hobson E, Mupambo N & McDermott C (2019) Monitoring and promoting effectiveness and adherence to non-invasive ventilation in motor neurone disease using Encore Anywhere telemonitoring: a pilot and feasibility, randomised controlled trial. NEUROLOGY, Vol. 92(15)
Mistry S, Hosty J, Patil A, McDermott C, Shaw P & Jenkins T (2019) Predicting benign brachial monomelic amyotrophy: factors at presentation that differentiate from amyotropic lateral sclerosis. NEUROLOGY, Vol. 92(15)
Toh C, Keslake A, Harding J, Baster K, Hoggard N, Bigley J, McDermott CJ, Shaw PJ, Wilkinson ID & Jenkins TM (2019) Investigating Directionality of Neurodegeneration in vivo in ALS using Multimodal MRI. NEUROLOGY, Vol. 92(15)
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Shaw C, Al-Chalabi A, McDermott C, Hautbergue G & Shaw P (2019) MUTATIONS IN THE GLYCOSYLTRANSFERASE DOMAIN OF GLT8D1 CAUSE ALS. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 90(12) (pp E20-E21)
Hobson E, Baxter S, Pryde E, Reed H, Spronson L, Soreny C, White S & McDermott C (2018) “Nothing about me, without me”. Using user-centred design to develop evidence-based solutions to common problems in Motor neurone disease. Annals of Physical and Rehabilitation Medicine, Vol. 61 (pp e521-e521)
Jenkins TM, Alix J, Hoggard N, Rao G, O'brien E, Baster K, Bigley J, Wilkinson I, McDermott C & Shaw P (2018) Imaging denervation in amyotrophic lateral sclerosis for future clinical trials: 12-month follow-up from a longitudinal cohort study. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 25 (pp 302-302)
Hewamadduma CA, Omalley R, Robinson M, Beauchamp N, Rogers T, Martindale J, Mcdermott C, Shaw P, Hoggard N & Hadjivassiliou M (2017) Mutations in SPG7 as an important cause of spastic-ataxia in a large british cohort: Hybrid phenotype helps direct screening. Journal of the Neurological Sciences, Vol. 381 (pp 304-305) View this article in WRRO
Oliver D & McDermott C (2017) Multidisciplinary care in amyotrophic lateral sclerosis – the evidence for effectiveness. Journal of the Neurological Sciences, Vol. 381 (pp 707-707)
Jenkins T, Alix J, Rao G, Hoggard N, O'Brien E, Baster K, Bradburn M, Bigley J, McDermott C, Wilkinson I & Shaw P (2017) Imaging denervation in motor neuron disease for future clinical trials: a longitudinal cohort study. Journal of the Neurological Sciences, Vol. 381 (pp 102-102) View this article in WRRO
Oliver D, Edwards A, McDermott C & Radunovic A (2016) The development of an evidence based guideline on the assessment and management of motor neurone disease/amyotrophic lateral sclerosis. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 23 (pp 646-646)
Rafiq M, Proctor A, McDermott C & Shaw P (2015) SCREENING FOR RESPIRATORY FAILURE IN ALS USING CLINICAL QUESTIONING, RESPIRATORY FUNCTION TESTS AND TRANSCUTANEOUS CARBON DIOXIDE: WHICH IS THE BETTER TOOL?. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 86(11) (pp e4.54-e4) View this article in WRRO
Rafiq M, Lee E, Bradburn M, McDermott C & Shaw P (2015) Elevated creatine kinase is associated with a better prognosis in patients with amyotrophic lateral sclerosis. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 22 (pp 741-741) View this article in WRRO
Rafiq M, Bradburn M, McDermott C & Shaw P (2015) Effects of cough augmentation on pulmonary morbidity, survival, and quality of life in patients with amyotrophic lateral sclerosis in respiratory failure: a randomised trial. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 22 (pp 244-244)
Rafiq MK, Bradburn M, Proctor A, Billings C, Bianchi S, McDermott C & Shaw P (2014) ROLE OF COUGH AUGMENTATION IN AMYOTROPHIC LATERAL SCLEROSIS. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 85(10) (pp e4.93-e4)
Rafiq M, Lee E, Bradburn M, McDermott C & Shaw P (2013) Elevated creatine kinase suggests better prognosis in patients with amyotrophic lateral sclerosis.. J Neurol Neurosurg Psychiatry, Vol. 84(11) (pp e2). England
Cooper-Knock J, Highley JR, Hartley J, Milano A, Sawcer S, Compston A, Frolov A, Charlesworth G, Wood N, Bandmann O , McDermott CJ et al (2013) Neurodegeneration caused by intronic expansions of C9ORF72 is a clinically heterogeneous but pathologically distinct disease. LANCET, Vol. 381 (pp 32-32)
Rafiq M, Proctor AR, McDermott CJ & Shaw P (2012) CLINICAL EVALUATION OF TRANSCUTANEOUS CARBON DIOXIDE MONITOR (TOSCA) IN PATIENTS WITH MOTOR NEURONE DISEASE. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 83
McDermott C, Proctor A, Walsh T, Ackroyd R, Rao G, Bianchi S, Englert L, Rafiq MK & Shaw PJ (2012) EXPERIENCE OF THE USE OF DIAPHRAGM PACING IN PATIENTS WITH RESPIRATORY IMPAIRMENT DUE TO MOTOR NEURONE DISORDERS. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 83(3)
Aridegbe T, Kandler R, Walsh T, Shaw PJ & McDermott CJ (2012) THE NATURAL HISTORY OF MOTOR NEURONE DISEASE (MND): ASSESSING THE IMPACT OF SPECIALIST CARE. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 83(3)
Baxter SK, Baird WO, Thompson S, Bianchi S, Walters S, Ahmedzai SH, Proctor A, Shaw PJ & McDermott CJ (2012) The Use of Non-Invasive Ventilation for Patients with Motor Neurone Disease: Patient and Carer Perceptions of Obstacles and Outcomes. ANNALS OF NEUROLOGY, Vol. 72 (pp S73-S74)
Haunch S, MacDonald A, Brown N & McDermott C (2011) The Environmental Legacy of Historic Mining Activities in the Almond River Catchment, Scotland. MINE WATER - MANAGING THE CHALLENGES: PROCEEDINGS OF THE INTERNATIONAL MINE WATER ASSOCIATION CONGRESS 2011 (pp 581-586)
Hewamadduma C, Harkness KA, Chadha DK, Dalton A & McDermott CJ (2010) CADASIL IN A MOTHER AND SON DUE TO A NOVEL MUTATION OF THE NOTCH-3 GENE. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 81(11) (pp E50-E50)
Philips A, Englert L, Ackroyd R, Shaw PJ & Mc Dermott C (2010) Laparoscopic insertion of a diaphragmatic pacing system in patients with non-spinal injury-related neurological respiratory failure: the first reported UK cases. Anaesthesia, Vol. 65(1) (pp 112-113)
Douglass CP, Kandler RH, Shaw PJ & McDermott CJ (2009) AN AUDIT OF NEUROPHYSIOLOGICAL CRITERIA USED IN THE DIAGNOSIS OF MOTOR NEURONE DISEASE. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 80(11)
Sarrigiannis PG, Ponnusamy A, Randall M, McDermott C & Hadjivassiliou M (2009) CLINICAL AND NEUROPHYSIOLOGICAL SIMILARITIES BETWEEN TOXIC AND ACQUIRED INFLAMMATORY DEMYELINATING NEUROPATHIES: A REPORT OF TWO CASES. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 80(1) (pp 123-123)
Georgala MN, Chattopadhyay AK & McDermott CJ (2009) CLINICAL AND NEUROPHYSIOLOGICAL FINDINGS IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 80(1) (pp 101-102)
McDermott CJ, Burness CE, Rao G, Kirby J, Shaw PJ & Spastin HSP Consortium Neurologist (2006) Further insights into HSP and spastin: Severe complicated phenotypes and evidence of lower motor neurone dysfunction. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 77(1) (pp 137-137)
McDermott CJ, Grierson A, Wood J & Shaw PJ (2003) Hereditary spastic paraparesis associated with mutation in spastin (SPG4): A disorder of axonal transport?. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol. 74(10) (pp 1453-1453)
Holden M, Chapman L, Wymer B, Shaw P, McDermott C & Dalton A (2003) The results of screening all 17 exons of the spastin gene (SPG4) for autosomally dominantly transmitted Hereditary Spastic Paraplegia. JOURNAL OF MEDICAL GENETICS, Vol. 40 (pp S81-S81)
McDermott CJ, Dayaratne RK, Tomkins J, Johnson MA, Casari G, Turnbull DM, Bushby K & Shaw PJ (2000) Hereditary spastic paraparesis with amyotrophy and OXPHOS muscle defect associated with a deletion in the paraplegin (SPG7) gene with apparent autosomal dominant transmission. NEUROLOGY, Vol. 54(7) (pp A425-A425)

Reports

McDermott CJ (2015) NIV withdrawal guidance – published by Association of Palliative Medicine of GB and Northern Ireland.

Other

McDermott CJ & Bradburn MJ (2016) Diaphragm pacing in patients with amyotrophic lateral sclerosis – Authors' reply. The Lancet Neurology, 15(6), 543-544.

Preprints

Musson LS, Mitic N, Leigh-Valero V, Onambele-Pearson G, Knox L, Steyn FJ, Holdom CJ, Dick TJM, van Eijk RPA, van Unnik JWJ , Botman LCM et al (2024) The use of digital devices to monitor physical behaviour in motor neuron disease: a systematic review (Preprint), JMIR Publications Inc..
Weinreich M, McDonough H, Yacovzada N, Magen I, Cohen Y, Harvey C, Gornall S, Boddy S, Alix J, Mohseni N , Kurz JM et al (2024) predicTTE: An accessible and optimal tool for time-to-event prediction in neurological diseases, Cold Spring Harbor Laboratory.
Knox L, Coates E, Griffiths A, Ali Y, Hobson E & McDermott C (2024) Development and Evaluation of the Telehealth in Motor Neuron Disease System: The TIME Study Protocol (Preprint), JMIR Publications Inc..
Lombardo FL, Alegiani SS, Mayer F, Cipriani M, Giudice ML, Ludolph AC, McDermott CJ, Corcia P, Damme PV, Berg LHVD , Hardiman O et al (2023) A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial, Research Square Platform LLC.
Rose L, Thaventhiran T, Hobson E, Rogers R, James K, Chu P, Carter B, Faull C, Saha S, Lee JS , Kaltsaka G et al (2023) Digital peer-to-peer support programme for informal caregivers of people living with motor neuron disease: study protocol for a multi-centre parallel group, single blinded (outcome assessor) randomised controlled superiority trial, Research Square Platform LLC.
Roscoe S, Skinner E, Kibirige EK, Childs C, Weekes CE, Wootton S, Allen S, McDermott C & Stavroulakis T (2022) A critical view of the use of predictive energy equations for the identification of hypermetabolism in motor neuron disease, Cold Spring Harbor Laboratory.
Phelps K, Regen E, McDermott CJ, Oliver DJ & Faull C () Withdrawal of Assisted Ventilation at the Patient’s Request in MND/ALS: A Retrospective Exploration of the Ethical and Legal Issues Concerning Relatives, Nurses and Allied Health Care Professionals, Cold Spring Harbor Laboratory.
van Eijk RPA, Beelen A, Kruitwagen ET, Murray D, Radakovic R, Hobson E, Knox L, Helleman J, Burke T, Rubio Pérez MÁ , Reviers E et al () A Road Map for Remote Digital Health Technology for Motor Neuron Disease (Preprint).
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Robberecht W , Hardiman O et al () Mutations in the Glycosyltransferase Domain of GLT8D1 Cause Amyotrophic Lateral Sclerosis.

Research group

Esther Hobson
Alys Griffiths
Theocharis Stavroulakis
Liam Knox
Mbombe Kazoka
Stacy Young
Lee Tuddenham
Sarah Boddy
Emily Mayberry
Sean White
Jade Howard
Harry McDonnogh
Madalina Roman
Mary Sikonga
Leslie Ing
Lucy Musson
Charlotte Massey
Jon Street
Sarah Roscoe

Grants

Principal Funding Sources

Motor Neurone Disease Association, UK
National Institute of Health Research (NIHR)
LifeArc
My Name’5 Doddie Foundation
European Union

Professional activities and memberships

Co-Director UK MND Research Institute (2022 onwards)
Neuroscience Theme Lead at NIHR Sheffield Biomedical Research Centre (2022 onwards)
NIHR Research Professor (2021-onwards)
Head of Department, Neuroscience, University of Sheffield (2018-2022 onwards)
Chair of Association of British Neurologists MND Special Interest Group (2017 onwards)
Member of Association of British Neurologists Neuromuscular Advisory Group (2018-2022 onwards)
Deputy Director of NIHR BRC Sheffield (2017-2022 onwards)
External Examiner Neuroscience MSc, Kings College London (2016 -2020)
Expert Advisor for NICE (2016 onwards)
Charitable Trustee for Neurocare (2016 onwards)
Group Leader for the International ALS Clinical Trials Guidelines (2015-2017).
Chair of the NIHR DeNDRoN MND Clinical Studies Group (2015 onwards)
Chair of the MND Association Clinical Advisory Board (2015 onwards)
Member MND NICE Clinical Guidelines Development Group (2013 – 2016) and NICE Quality Assurance panel (2015 - 2016).
Founding Course Leader – Clinical Neurology MSc, University of Sheffield (2011-2015)
Clinical Lead for Neurology, Sheffield Teaching Hospitals (2012-2014)
Member of NIHR RfPB (2010-2014) and MNDA healthcare research grant panels (2014 onwards).
Representation of the Yorkshire and Humber region nationally on the Joint Royal College of Physician’s Specialty Advisory Committee (2008 - 2013).
Training Programme Director for Neurology Yorkshire and Humber (2008-2012)

Invited lectures

2017

NICE Guidelines 1 year on Conference, London UK - Managing Symptoms in MND at the MND
Association British Neurologists Meeting, Liverpool - Right to try
MND Care Centre Meeting, Kettering - MyTube
NIHR Annual CRF conference, Glasgow - User Centred Design
Newcastle Neurosciences Meeting, Newcastle upon Tyne - MND A Journey through time and space
MND Scotland meeting, Stirling - MND Clinical Research update
Oxford Neurosciences Meeting, Oxford - MND Surviving the experts

2016

Manchester Regional Neurosciences Centre – The evidence base for supportive Care in ALS.
Newcastle upon Tyne, MND study day – Delivering evidence based care for individuals with ALS.
Sheffield MND Study day – Recent developments in ALS care.
St Christopher’s Hospice, London – Nutritional Care in ALS.
Primary Care 2016, NEC, Birmingham – NICE guidelines for primary care.

2015

British Thoracic Society, London – Diaphragmatic Pacing in ALS
Difficult Lung Disease symposium, Sheffield – Neuromuscular disease for the respiratory physician.
MNDA Care Centre meeting, Stafford - myNIV
Association of palliative medicine neurological palliative care specialist interest forum, Manchester – What is new in MND.
1st UK PLS conference, Oxford – HSP and PLS
WFN ALS meeting, Orlando – DiPALS results

2014

MNDA Care Centre meeting, Stafford – Head Up
Royal Society Medicine, London – The evidence base for symptomatic care in ALS
MND Centre, Oxford – Update on symptomatic care.
The Walton Centre, Liverpool - Update on symptomatic care.
St Christopher’s Hospice, London – Head Up.
Royal College of Physicians Regional Update, Sheffield – Neurology for the physician.

2013

Plenary speaker: ENCALS, Sheffield - While we wait.
MND Care Centre Directors meeting, Birmingham – Head Up and Secretion management
St Christopher’s Hospice, London – Diaphragmatic Pacing
The Walton Centre Regional Neurosciences Centre, Liverpool – Respiratory management of MND

2012

Edinburgh Regional Neurosciences Centre - Respiratory management of MND
Home Mechanical Ventilation Meeting, St Thomas Hospital, London – Role of Diaphragmatic Pacing
Palliative Care Symposium, Leeds – Living with MND
MNDA AGM – Developing the evidence base for clinical care in MND

2011

Association of British Neurologists meeting – Clinical advances in MND
European federation of neurological sciences, Lisbon – MND and its mimics

2010

European Federation of Neurological Sciences, Rhodes - Lump or Split?
MNDA Birmingham – Diaphragmatic Pacing in MND
Nutrition Course, Leeds – Nutrition in MND

2009

Leeds MNDA centre opening – Hereditary spastic paraparesis

School of Medicine and Population Health