Orla Hardiman
Professor of Neurology/Head of Academic , Clinical Medicine
Professor of Neurology/Head of Academic , Trinity Inst. of Neurosciences (TCIN)

Publications and Further Research Outputs

Peer-Reviewed Publications

Byrne RP, Martiniano R, Cassidy LM, Carrigan M, Hellenthal G, Hardiman O, Bradley DG, McLaughlin RL, Insular Celtic population structure and genomic footprints of migration, PLOS Genetics, 14, 2018, pe1007152 Journal Article, 2018 DOI TARA - Full Text

Andrews, J.A. and Cudkowicz, M.E. and Hardiman, O. and Meng, L. and Bian, A. and Lee, J. and Wolff, A.A. and Malik, F.I. and Shefner, J.M., VITALITY-ALS, a phase III trial of tirasemtiv, a selective fast skeletal muscle troponin activator, as a potential treatment for patients with amyotrophic lateral sclerosis: study design and baseline characteristics, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2018, p259-266 Journal Article, 2018 TARA - Full Text DOI

Bede P, Omer T, Finegan E, Chipika RH, Iyer PM, Doherty MA, Vajda A, Pender N, McLaughlin RL, Hutchinson S, Hardiman O., Connectivity-based characterisation of subcortical grey matter pathology in frontotemporal dementia and ALS: a multimodal neuroimaging study., Brain Imaging Behav, 2018, p1 - 19 Journal Article, 2018

Taha Omer, Eoin Finegan, Siobhan Hutchinson, Mark Doherty, Alice Vajda, Russell L McLaughlin, Niall Pender, Orla Hardiman, Peter Bede, Neuroimaging patterns along the ALS-FTD spectrum: a multiparametric imaging study, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, (18), 2017, p611-623 Journal Article, 2017 DOI

Topp, S.D. and Fallini, C. and Shibata, H. and Chen, H.-J. and Troakes, C. and King, A. and Ticozzi, N. and Kenna, K.P. and Soragia-Gkazi, A. and Miller, J.W. and Sato, A. and Dias, D.M. and Jeon, M. and Vance, C. and Wong, C.H. and De Majo, M. and Kattuah, W. and Mitchell, J.C. and Scotter, E.L. and Parkin, N.W. and Sapp, P.C. and Nolan, M. and Nestor, P.J. and Simpson, M. and Weale, M. and Lek, M. and Baas, F. and De Jong, J.M.V. and Ten Asbroek, A.L.M.A. and Redondo, A.G. and Esteban-Pérez, J. and Tiloca, C. and Verde, F. and Duga, S. and Leigh, N. and Pall, H. and Morrison, K.E. and Al-Chalabi, A. and Shaw, P.J. and Kirby, J. and Turner, M.R. and Talbot, K. and Hardiman, O. and Glass, J.D. and De Belleroche, J. and Maki, M. and Moss, S.E. and Miller, C. and Gellera, C. and Ratti, A. and Al-Sarraj, S. and Brown, R.H., Jr. and Silani, V. and Landers, J.E. and Shaw, C.E., Mutations in the vesicular trafficking protein Annexin A11 are associated with amyotrophic lateral sclerosis Bradley N. Smith, Science Translational Medicine, 9, (388), 2017, peaad9157- Journal Article, 2017 DOI

Madill, M. and McDonagh, K. and Ma, J. and Vajda, A. and McLoughlin, P. and O'Brien, T. and Hardiman, O. and Shen, S., Amyotrophic lateral sclerosis patient iPSC-derived astrocytes impair autophagy via non-cell autonomous mechanisms, Molecular Brain, 10, (1), 2017 Journal Article, 2017 DOI

Crockford, C.J. and Kleynhans, M. and Wilton, E. and Radakovic, R. and Newton, J. and Niven, E.H. and Al-Chalabi, A. and Hardiman, O. and Bak, T.H. and Abrahams, S., ECAS A-B-C: alternate forms of the Edinburgh Cognitive and Behavioural ALS Screen, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2017, p1-8 Journal Article, 2017 DOI

Lefter S, Hardiman O, Ryan A.M, A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland, Neurology, 88, (3), 2017, p304 - 313 Journal Article, 2017 URL DOI

Peter Bede, Parameswaran M. Iyer, Eoin Finegan, Taha Omer, Orla Hardiman, Virtual brain biopsies in amyotrophic lateral sclerosis: diagnostic classification based on in vivo pathological patterns, Neuroimage Clinical, 15, 2017, p653-658 Journal Article, 2017 DOI

Iyer PM, Mohr K, Broderick M, Gavin B, Burke T, Bede P, Pinto-Grau M, Pender NP, McLaughlin R, Vajda A, Heverin M, Lalor EC, Hardiman O, Nasseroleslami B, Mismatch Negativity as an Indicator of Cognitive Sub-Domain Dysfunction in Amyotrophic Lateral Sclerosis, Front Neurol, 8, 2017, p395- Journal Article, 2017

Prieto-Fernández E, Díaz-de Usera A, Baeta M, Núñez C, Chbel F, Nadifi S, Rouault K, Férec C, Hardiman O, Pinheiro F, de Pancorbo M.M, A genetic overview of Atlantic coastal populations from Europe and North-West Africa based on a 17 X-STR panel, Forensic Science International: Genetics, 27, 2017, p167 - 171 Journal Article, 2017 DOI URL

Rooney, J.P.K. and Brayne, C. and Tobin, K. and Logroscino, G. and Glymour, M.M. and Hardiman, O., Benefits, pitfalls, and future design of population-based registers in neurodegenerative disease, Neurology, 88, (24), 2017, p2321-2329 Journal Article, 2017 DOI

Cooper-Knock, J. and Robins, H. and Niedermoser, I. and Wyles, M. and Heath, P.R. and Higginbottom, A. and Walsh, T. and Kazoka, M. and Al Kheifat, A. and Al-Chalabi, A. and Basak, N. and Blair, I. and Dekker, A. and Hardiman, O. and Hide, W. and Iacoangeli, A. and Kenna, K. and Landers, J. and McLaughlin, R. and Mill, J. and Middelkoop, B. and Moisse, M. and Pardina, J.M. and Morrison, K. and Newhouse, S. and Pulit, S. and Shatunov, A. and Shaw, C. and Sproviero, W. and Tazelaar, G. and van Damme, P. and van den Berg, L. and van der Spek, R. and Eijk, K. and van Es, M. and van Rheenen, W. and van Vugt, J. and Veldink, J. and Kooyman, M. and Glass, J. and Robberecht, W. and Gotkine, M. and Drory, V. and Kiernan, M. and Neto, M.M. and Ztaz, M. and Couratier, P. and Corcia, P. and Silani, V. and Chio, A. and de Carvalho, M. and Pinto, S. and Redondo, A.G. and Andersen, P. and Weber, M. and Ticozzi, N. and Ince, P.G. and Hautbergue, G.M. and McDermott, C.J. and Kirby, J. and Shaw, P.J. and Project MinE ALS Sequencing Consortium, Targeted genetic screen in amyotrophic lateral sclerosis reveals novel genetic variants with synergistic effect on clinical phenotype, Frontiers in Molecular Neuroscience, 10, 2017, p370- Journal Article, 2017 DOI TARA - Full Text

Christopher Crockford, Judith Newton, Katie Lonergan, Caoifa Madden, Iain Mays, Meabhdh O'Sullivan, Emmet Costello, Marta Pinto-Grau, Alice Vajda, Mark Heverin, Niall Pender, Ammar Al-Chalabi, Orla Hardiman, Sharon Abrahams, Measuring reliable change in cognition using the Edinburgh Cognitive and Behavioural ALS Screen (ECAS), Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2017, p1 - 9 Journal Article, 2017

Vajda A, McLaughlin RL, Heverin M, Thorpe O, Abrahams S, Al-Chalabi A, Hardiman O, Genetic testing in ALS: A survey of current practices., Neurology, 88, (10), 2017, p991 - 999 Journal Article, 2017 DOI

Peter Bede, Eoin Finegan, Orla Hardiman, From pneumomyelography to cord tractography: historical perspectives on spinal imaging., Future Neurol, 12, (3), 2017, p121-124 Journal Article, 2017 DOI

Burke, T. and Galvin, M. and Pinto-Grau, M. and Lonergan, K. and Madden, C. and Mays, I. and Carney, S. and Hardiman, O. and Pender, N., Caregivers of patients with amyotrophic lateral sclerosis: investigating quality of life, caregiver burden, service engagement, and patient survival, Journal of Neurology, 264, (5), 2017, p898-904 Journal Article, 2017 DOI

Rooney J, Fogh I, Westeneng HJ, Vajda A, McLaughlin R, Heverin M, Jones A, van Eijk R, Calvo A, Mazzini L, Shaw C, Morrison K, Shaw PJ, Robberecht W, Van Damme P, Al-Chalabi A, van den Berg L, Chiò A, Veldink J, Hardiman O, C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis., Journal of neurology, neurosurgery, and psychiatry, 88, (4), 2017, p281 - 281 Journal Article, 2017 DOI

Pinto-Grau M, Costello E, O'Connor S, Elamin M, Burke T, Heverin M, Pender N,, Hardiman O, Assessing behavioural changes in ALS: cross-validation of ALS-specific measures., Journal of Neurology, 2017, p1397 - 1401 Journal Article, 2017 DOI

Bigdeli, T.B. and Ripke, S. and Peterson, R.E. and Trzaskowski, M. and Bacanu, S.-A. and Abdellaoui, A. and Andlauer, T.F.M. and Beekman, A.T.F. and Berger, K. and Blackwood, D.H.R. and Boomsma, D.I. and Breen, G. and ButtenschÃ"n, H.N. and Byrne, E.M. and Cichon, S. and Clarke, T.-K. and Couvy-Duchesne, B. and Craddock, N. and De Geus, E.J.C. and Degenhardt, F. and Dunn, E.C. and Edwards, A.C. and Fanous, A.H. and Forstner, A.J. and Frank, J. and Gill, M. and Gordon, S.D. and Grabe, H.J. and Hamilton, S.P. and Hardiman, O. and Hayward, C. and Heath, A.C. and Henders, A.K. and Herms, S. and Hickie, I.B. and Hoffmann, P. and Homuth, G. and Hottenga, J.-J. and Ising, M. and Jansen, R. and Kloiber, S. and Knowles, J.A. and Lang, M. and Li, Q.S. and Lucae, S. and MacIntyre, D.J. and Madden, P.A.F. and Martin, N.G. and McGrath, P.J. and McGuffin, P. and McIntosh, A.M. and Medland, S.E. and Mehta, D. and Middeldorp, C.M. and Milaneschi, Y. and Montgomery, G.W. and Mors, O. and MÃ"ller-Myhsok, B. and Nauck, M. and Nyholt, D.R. and Nöthen, M.M. and Owen, M.J. and Penninx, B.W.J.H. and Pergadia, M.L. and Perlis, R.H. and Peyrot, W.J. and Porteous, D.J. and Potash, J.B. and Rice, J.P. and Rietschel, M. and Riley, B.P. and Rivera, M. and Schoevers, R. and Schulze, T.G. and Shi, J. and Shyn, S.I. and Smit, J.H. and Smoller, J.W. and Streit, F. and Strohmaier, J. and Teumer, A. and Treutlein, J. and Van Der Auwera, S. and Van Grootheest, G. and Van Hemert, A.M. and Völzke, H. and Webb, B.T. and Weissman, M.M. and Wellmann, J. and Willemsen, G. and Witt, S.H. and Levinson, D.F. and Lewis, C.M. and Wray, N.R. and Flint, J. and Sullivan, P.F. and Kendler, K.S., Genetic effects influencing risk for major depressive disorder in China and Europe, Translational Psychiatry, 7, (3), 2017, pe1074- Journal Article, 2017 DOI

Turner, M.R. and Al-Chalabi, A. and Chio, A. and Hardiman, O. and Kiernan, M.C. and Rohrer, J.D. and Rowe, J. and Seeley, W. and Talbot, K., Genetic screening in sporadic ALS and FTD, Journal of Neurology, Neurosurgery and Psychiatry, 88, (12), 2017, p1042-1044 Journal Article, 2017 DOI

Bede P, Hardiman O. , Longitudinal structural changes in ALS: a three time-point imaging study of white and gray matter degeneration. , . Amyotroph Lateral Scler Frontotemporal Degener, 2017, p1 - 10 Journal Article, 2017

Murray, D. and Hardiman, O. and Campion, A. and Vance, R. and Horgan, F. and Meldrum, D., The effects of a home-based arm ergometry exercise programme on physical fitness, fatigue and activity in Polio survivors: A randomised controlled trial, Clinical Rehabilitation, 31, (7), 2017, p913-925 Journal Article, 2017 DOI

McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH, Project MinE GWAS Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Genetic correlation between amyotrophic lateral sclerosis and schizophrenia., Nature Communications, 2017, p14774 Journal Article, 2017 TARA - Full Text DOI

D†Ovidio, F. and Rooney, J.P.K. and Visser, A.E. and Vermeulen, R.C.H. and Veldink, J.H. and Van Den Berg, L.H. and Hardiman, O. and Logroscino, G. and Chiò, A. and Beghi, E. and for the Euro-MOTOR Group, Critical issues in ALS case-control studies: the case of the Euro-MOTOR study, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18, (5-6), 2017, p411-418 Journal Article, 2017 DOI

Galvin, M. and Gaffney, R. and Corr, B. and Mays, I. and Hardiman, O., From first symptoms to diagnosis of amyotrophic lateral sclerosis: Perspectives of an Irish informal caregiver cohort - A thematic analysis, BMJ Open, 7, (3), 2017, pe014985- Journal Article, 2017 DOI

Hardiman, O. and van den Berg, L.H., Edaravone: a new treatment for ALS on the horizon?, The Lancet Neurology, 16, (7), 2017, p490-491 Journal Article, 2017 DOI

Galvin M, Ryan P, Maguire S, Heverin M, Madden C, Vajda A, Normand C, Hardiman O, The path to specialist multidisciplinary care in amyotrophic lateral sclerosis: A population- based study of consultations, interventions and costs. , PLoS One, 12, (6), 2017 Journal Article, 2017

Pupillo, E. and Poloni, M. and Bianchi, E. and Giussani, G. and Logroscino, G. and Zoccolella, S. and Chiò, A. and Calvo, A. and Corbo, M. and Lunetta, C. and Marin, B. and Mitchell, D. and Hardiman, O. and Rooney, J. and Stevic, Z. and Bandettini di Poggio, M. and Filosto, M. and Cotelli, M.S. and Perini, M. and Riva, N. and Tremolizzo, L. and Vitelli, E. and Damiani, D. and Beghi, E. and The EURALS Consortium, Trauma and amyotrophic lateral sclerosis: a european population-based case-control study from the EURALS consortium, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2017, p1-8 Journal Article, 2017 DOI

Schuster C, Hardiman O, Bede P., Survival prediction in Amyotrophic lateral sclerosis based on MRI measures and clinical characteristics, BMC Neurol, 17, (1), 2017, p73- Journal Article, 2017 DOI

Burke T, Lonergan K, Pinto-Grau M, Elamin M, Bede P, Madden C, Hardiman O & Pender N., Visual Encoding, Consolidation, and Retrieval in Amyotrophic Lateral Sclerosis: Executive Function as a Mediator, and Predictor of Performance., Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2017, p1-9 Journal Article, 2017 DOI

Van Der Spek RA, Van Rheenen W, Pulit SL, Kenna KP, Ticozzi N, Kooyman M, McLaughlin RL, Moisse M, Van Eijk KR, Van Vugt JJFA, Andersen P, Nazli Basak A, Blair I, De Carvalho M, Chio A, Corcia P, Couratier P, Drory VE, Glass JD, Hardiman O, Mora JS, Morrison KE, Mitne-Neto M, Robberecht W, Shaw PJ, Panadés MP, Van Damme P, Silani V, Gotkine M, Weber M, Van Es MA, Landers JE, Al-Chalabi A, Van Den Berg LH, Veldink JH; PROJECT MINE ALS SEQUENCING CONSORTIUM., Reconsidering the causality of TIA1 mutations in ALS, Amyotroph Lateral Scler Frontotemporal Degener, 13, 2017, p1-3 Journal Article, 2017

Hardiman, O. and Al-Chalabi, A. and Brayne, C. and Beghi, E. and Van Den Berg, L.H. and Chio, A. and Martin, S. and Logroscino, G. and Rooney, J., The changing picture of amyotrophic lateral sclerosis: Lessons from European registers, Journal of Neurology, Neurosurgery and Psychiatry, 88, (7), 2017, p557-563 Journal Article, 2017 DOI

Al-Chalabi, A. and Andersen, P.M. and Chandran, S. and Chio, A. and Corcia, P. and Couratier, P. and Danielsson, O. and de Carvalho, M. and Desnuelle, C. and Grehl, T. and Grosskreutz, J. and HolmÞy, T. and Ingre, C. and Karlsborg, M. and Kleveland, G. and Christoph Koch, J. and Koritnik, B. and KuzmaKozakiewicz, M. and Laaksovirta, H. and Ludolph, A. and McDermott, C. and Meyer, T. and Mitre Ropero, B. and Mora Pardina, J. and Nygren, I. and Petri, S. and Povedano Panades, M. and Salachas, F. and Shaw, P. and Silani, V. and Staaf, G. and Svenstrup, K. and Talbot, K. and Tysnes, O.-B. and Van Damme, P. and van der Kooi, A. and Weber, M. and Weydt, P. and Wolf, J. and Hardiman, O. and van den Berg, L.H., July 2017 ENCALS statement on edaravone, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18, (7-8), 2017, p471-474 Journal Article, 2017 DOI

Margaret O'Brien, Tom Burke, Mark Heverin, Alice Vajda, Russell McLaughlin, John Gibbons, Susan Byrne, Marta Pinto-Grau, Marwa Elamin, Niall Pender, Orla Hardiman, Clustering of neuropsychiatric disease in first-degree and second-degree relatives of patients with amyotrophic lateral sclerosis, JAMA neurology, 74, 2017, p1425-1430 Journal Article, 2017

Rooney, J.P.K. and Visser, A.E. and D'Ovidio, F. and Vermeulen, R. and Beghi, E. and Chio, A. and Veldink, J.H. and Logroscino, G. and Van Den Berg, L.H. and Hardiman, O., A case-control study of hormonal exposures as etiologic factors for ALS in women, Neurology, 89, (12), 2017, p1283-1290 Journal Article, 2017 DOI

Dukic S., Iyer P. M., Mohr K., Hardiman O., Lalor E. C., Nasseroleslami B., Estimation of coherence using the median is robust against EEG artefacts , 2017 39th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) , Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) , Jeju, South Korea, 2017, 2017, pp3949 - 3952 Conference Paper, 2017 DOI

Al-Chalabi A, Hardiman O, Kiernan M.C, Chiò A, Rix-Brooks B, van den Berg L.H, Amyotrophic lateral sclerosis: moving towards a new classification system, The Lancet Neurology, 15, (11), 2016, p1182 - 1194 Journal Article, 2016 URL DOI

Foley G, Timonen V, Hardiman O., "I hate being a burden": The patient perspective on carer burden in amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17, (5-6), 2016, p351 - 357 Journal Article, 2016 TARA - Full Text DOI

Rooney J, Burke T, Vajda A, Heverin M, Hardiman O, What does the ALSFRS-R really measure? A longitudinal and survival analysis of functional dimension subscores in amyotrophic lateral sclerosis, J Neurol Neurosurg Psychiatry, 2016, p1- Journal Article, 2016 URL DOI

Pinto-Grau M, Burke T, Lonergan K, McHugh C, Mays I, Madden C, Vajda A, Heverin M, Elamin M, Hardiman O, Pender N, Screening for cognitive dysfunction in ALS: validation of the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) using age and education adjusted normative data, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18, (1-2), 2016, p99-106 Journal Article, 2016 URL DOI

Williams K.L, Topp S, Yang S, Smith B, Fifita J.A, Warraich S.T, Zhang K.Y, Farrawell N, Vance C, Hu X, Chesi A, Leblond C.S, Lee A, Rayner S.L, Sundaramoorthy V, Dobson-Stone C, Molloy M.P, Van Blitterswijk M, Dickson D.W, Petersen R.C, Graff-Radford N.R, Boeve B.F, Murray M.E, Pottier C, Don E, Winnick C, McCann E.P, Hogan A, Daoud H, Levert A, Dion P.A, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi A.S, Miller J, Stockton J, Brooks W.S, Boundy K, Polak M, Muñoz-Blanco J.L, Esteban-Pérez J, Rábano A, Hardiman O, Morrison K.E, Ticozzi N, Silani V, De Belleroche J, Glass J.D, Kwok J.B.J, Guillemin G.J, Chung R.S, Tsuji S, Brown R.H, García-Redondo A, Rademakers R, Landers J.E, Gitler A.D, Rouleau G.A, Cole N.J, Yerbury J.J, Atkin J.D, Shaw C.E, Nicholson G.A, Blair I.P, CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia, Nature Communications, 7, 2016 Journal Article, 2016 DOI URL

Burke T, Elamin M, Bede P, Pinto-Grau M, Lonergan K, Hardiman O, Pender N, Discordant Performance on the 'Reading the Mind in the Eyes' Test, Based on Disease Onset in Amyotrophic Lateral Sclerosis, Amyotroph Lateral Scler Frontotemporal Degener, 17, (7-8), 2016, p467-472 Journal Article, 2016 DOI

Bede P, Iyer PM, Schuster C, Elamin M, Mclaughlin RL, Kenna K, Hardiman O., The selective anatomical vulnerability of ALS: 'disease-defining' and 'disease-defying' brain regions., Amyotroph Lateral Scler Frontotemporal Degener., 2016, p1-10 Journal Article, 2016 DOI

Elamin M, Pinto-Grau M, Burke T, Bede P, Rooney J, O†Sullivan M, Lonergan K, Kirby E, Quinlan E, Breen N, Vajda A, Heverin M, Pender N, Hardiman O, Identifying behavioural changes in ALS: Validation of the Beaumont Behavioural Inventory (BBI), Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18, (1-2), 2016, p68-73 Journal Article, 2016 URL DOI

Schuster C, Elamin M, Hardiman O, Bede P., The segmental diffusivity profile of amyotrophic lateral sclerosis associated white matter degeneration., Eur J Neurol., 2016, p1- Journal Article, 2016 DOI

Galvin M, Corr B, Madden C, Mays I, McQuillan R, Timonen V, Staines A, Hardiman O, Caregiving in ALS - A mixed methods approach to the study of Burden, BMC Palliative Care, 15, (1), 2016, p81- Journal Article, 2016 DOI TARA - Full Text URL

Burke T, Pinto-Grau M, Lonergan K, Elamin M, Bede P, Costello E, Hardiman O, Pender N, Measurement of Social Cognition in Amyotrophic Lateral Sclerosis: A Population Based Study, PLoS One, 11, (8), 2016, pe0160850- Journal Article, 2016 DOI TARA - Full Text

Rooney J, Vajda A, Heverin M, Crampsie A, Tobin K, McLaughlin R, Staines A, Hardiman O, No association between soil constituents and amyotrophic lateral sclerosis relative risk in Ireland., Environmental research, 147, 2016, p102-7 Journal Article, 2016 DOI

Schuster C, Hardiman O, Bede P, Development of an automated MRI-based diagnostic protocol for amyotrophic lateral sclerosis using disease-specific pathognomonic features: A quantitative disease-state classification study, PLoS ONE, 11, (12), 2016, p016733- Journal Article, 2016 DOI TARA - Full Text URL

Rooney J, Heverin M, Vajda A, Burke T, Galvin M, Tobin K, Elamin M, Staines A, Hardiman O, Survival analysis of geospatial factors in the Irish ALS cohort., Amyotrophic lateral sclerosis & frontotemporal degeneration, 2016, p1-6 Journal Article, 2016 DOI

Janssens A.I.W.A, Ruytings M, Al-Chalabi A, Chio A, Hardiman O, Mcdermott C.J, Meyer T, Mora G, Van Damme P, Van Den Berg L.H, Vanhaecht K, Winkler A.S, Sermeus W, 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), 2016, p325 - 336 Journal Article, 2016 URL DOI

Foley G, Timonen V, Hardiman O, †I hate being a burden†: The patient perspective on carer burden in amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17, (5-6), 2016, p351 - 357 Journal Article, 2016 DOI URL

Martiniano R, Caffell A, Holst M, Hunter-Mann K, Montgomery J, MÃ"ldner G, McLaughlin R.L, Teasdale M.D, Van Rheenen W, Veldink J.H, Van Den Berg L.H, Hardiman O, Carroll M, Roskams S, Oxley J, Morgan C, Thomas M.G, Barnes I, McDonnell C, Collins M.J, Bradley D.G, Genomic signals of migration and continuity in Britain before the Anglo-Saxons, Nature Communications, 7, 2016, 10326- Journal Article, 2016 URL DOI TARA - Full Text

Valverde L, Illescas M.J, Villaescusa P, Gotor A.M, Garc'a A, Cardoso S, Algorta J, Catarino S, Rouault K, Férec C, Hardiman O, Zarrabeitia M, Jiménez S, Pinheiro M.F, Jarreta B.M, Olofsson J, Morling N, De Pancorbo M.M, New clues to the evolutionary history of the main European paternal lineage M269: Dissection of the Y-SNP S116 in Atlantic Europe and Iberia, European Journal of Human Genetics, 24, (3), 2016, p437 - 441 Journal Article, 2016 DOI URL

Tobin K, Gilthorpe MS, Rooney J, Heverin M, Vajda A, Staines A, Hardiman O, Age-period-cohort analysis of trends in amyotrophic lateral sclerosis incidence., Journal of neurology, 2016 Journal Article, 2016 DOI

Fogh I, Lin K, Tiloca C, Rooney J, Gellera C, Diekstra FP, Ratti A, Shatunov A, van Es MA, Proitsi P, Jones A, Sproviero W, Chiò A, McLaughlin RL, Sorarù G, Corrado L, Stahl D, Del Bo R, Cereda C, Castellotti B, Glass JD, Newhouse S, Dobson R, Smith BN, Topp S, van Rheenen W, Meininger V, Melki J, Morrison KE, Shaw PJ, Leigh PN, Andersen PM, Comi GP, Ticozzi N, Mazzini L, D'Alfonso S, Traynor BJ, Van Damme P, Robberecht W, Brown RH, Landers JE, Hardiman O, Lewis CM, van den Berg LH, Shaw CE, Veldink JH, Silani V, Al-Chalabi A, Powell J, Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis., JAMA neurology, 73, (7), 2016, p812-20 Journal Article, 2016 DOI

Elamin M, Bede P, Montuschi A, Pender N, Chio A, Hardiman O, Predicting prognosis in amyotrophic lateral sclerosis: a simple algorithm, Journal of Neurology, 262, (6), 2015, p1447-1454 Journal Article, 2015 TARA - Full Text DOI

P Bede, C Schuster, M Elamin, R Mclaughlin, K Kenna, O Hardiman. , The selective anatomical vulnerability of ALS - "disease-defining" and "disease defying" brain regions., Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17, (7-8), 2015, p561 - 570 Journal Article, 2015

Burke T, Wynne B, O'Brien C, Elamin M, Bede P, Hardiman O, Pender, N, Retrospective Investigations of Practice Effects on Repeated Neuropsychological Measures of Executive Functioning, The Irish Journal of Psychology, (April), 2015 Journal Article, 2015 DOI

Burke T, Healy D, Casey P, Hardiman O, Pender N, Atypical social cognitive processing in premotor Huntington†s disease: a single case study, Irish Journal of Psychological Medicine, 2015, p1-6 Journal Article, 2015 URL DOI

Ludolph A, Drory V, Hardiman O, Nakano I, Ravits J, Robberecht W, Shefner J, A revision of the El Escorial criteria - 2015, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16, (5-6), 2015, p291 - 292 Journal Article, 2015 URL DOI

McLaughlin L.R, Vajda A, Hardiman O, Heritability of amyotrophic lateral sclerosis insights from disparate numbers, JAMA Neurology, 72, (8), 2015, p857 - 858 Journal Article, 2015 URL

Burke T, Elamin M, Galvin M, Hardiman O, Pender N, Caregiver burden in amyotrophic lateral sclerosis: a cross-sectional investigation of predictors, Journal of Neurology, 262, (6), 2015, p1526 - 1532 Journal Article, 2015 DOI URL

McLaughlin RL, Kenna KP, Vajda A, Bede P, Elamin M, Cronin S, Donaghy CG, Bradley DG, Hardiman O, Second-generation Irish genome-wide association study for amyotrophic lateral sclerosis., Neurobiology of aging, 36, (2), 2015, p1221.e7-13 Journal Article, 2015

James Rooney, Susan Byrne, Mark Heverin, Katy Tobin, Alison Dick, Colette Donaghy, Orla Hardiman, A multidisciplinary clinic approach improves survival in ALS: a comparative study of ALS in Ireland and Northern Ireland, A multidisciplinary clinic approach improves survival in ALS: a comparative study of ALS in Ireland and Northern Ireland, 86, 2015, p496-501 Journal Article, 2015 URL DOI

Rooney JP, Tobin K, Crampsie A, Vajda A, Heverin M, McLaughlin R, Staines A, Hardiman O, Social deprivation and population density are not associated with small area risk of amyotrophic lateral sclerosis., Environmental research, 142, 2015, p141-7 Journal Article, 2015 URL

McLaughlin RL, Kenna KP, Vajda A, Heverin M, Byrne S, Donaghy CG, Cronin S, Bradley DG, Hardiman O., Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci, Genomics , 105, (4), 2015, p237-241 Journal Article, 2015 DOI

Rooney J, Vajda A, Heverin M, Elamin M, Crampsie A, McLaughlin R, Staines A, Hardiman O, Spatial cluster analysis of population amyotrophic lateral sclerosis risk in Ireland., Neurology, 84, (15), 2015, p1537-44 Journal Article, 2015 DOI URL

Galvin M, Madden C, Maguire S, Heverin M, Vajda A, Staines A, Hardiman O, Patient journey to a specialist amyotrophic lateral sclerosis multidisciplinary clinic: an exploratory study., BMC health services research, 15, 2015, p571 Journal Article, 2015 DOI TARA - Full Text

Schuster C, Elamin M, Hardiman O, Bede P, Presymptomatic and longitudinal neuroimaging in neurodegeneration: from snapshots to motion picture - a systematic review, J Neurol Neurosurg Psychiatry , 2015 Journal Article, 2015 DOI TARA - Full Text

Connolly S, Galvin M, Hardiman O, End-of-life management in patients with amyotrophic lateral sclerosis, The Lancet Neurology, 14, (4), 2015, p435 - 442 Journal Article, 2015 URL DOI

Kelly JA, Boyle NT, Cole N, Slator GR, Colivicchi MA, Stefanini C, Gobbo OL, Scalabrino GA, Ryan SM, Elamin M, Walsh C, Vajda A, Goggin MM, Campbell M, Mash DC, O'Mara SM, Brayden DJ, Callanan JJ, Tipton KF, Della Corte L, Hunter J, O'Boyle KM, Williams CH, Hardiman O, First-in-class thyrotropin-releasing hormone (TRH)-based compound binds to a pharmacologically distinct TRH receptor subtype in human brain and is effective in neurodegenerative models., Neuropharmacology, 89C, 2015, p193-203 Journal Article, 2015 TARA - Full Text DOI

Agosta F, Al-Chalabi A, Filippi M, Hardiman O, Kaji R, Meininger V, Nakano I, Shaw P, Shefner J, Van Den Berg L.H, Ludolph A, The El Escorial criteria: Strengths and weaknesses, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16, (1-2), 2015, p1 - 7 Journal Article, 2015 URL DOI

McLaughlin RL, Vajda A, Hardiman O, Heritability of Amyotrophic Lateral Sclerosis: Insights From Disparate Numbers., JAMA neurology, 72, (8), 2015, p857-8 Journal Article, 2015

Bradley WG, Stommel EW, Shi X, Torbick NM, Caller TA, Sabel CE, Rooney JP, Staines A, Hardiman O, Spatial cluster analysis of population amyotrophic lateral sclerosis risk in Ireland., Neurology, 85, (20), 2015, p1822-3 Journal Article, 2015

Rooney J, Vajda A, Heverin M, Elamin M, Crampsie A, McLaughlin R, Staines A, Hardiman O, Spatial cluster analysis of population amyotrophic lateral sclerosis risk in Ireland, Neurology, 84, (15), 2015, p1537 - 1544 Journal Article, 2015 DOI URL

Connolly S, Heslin C, Mays I, Corr B, Normand C, Hardiman O. , Health and social care costs of managing amyotrophic lateral sclerosis (ALS): An Irish perspective, amyotrophic lateral sclerosis and frontotemporal degeneration, 16, (1-2), 2015, p58 - 62 Journal Article, 2015 DOI

Bede P, Elamin M, Byrne S, McLaughlin RL, Kenna K, Vajda A, Fagan A, Bradley DG, Hardiman O., Patterns of cerebral and cerebellar white matter degeneration in ALS., J Neurol Neurosurg Psychiatry, 86, (4), 2015, p468-470 Journal Article, 2015 TARA - Full Text DOI

Stela Lefter, Orla Hardiman, Russell L. McLaughlin, Sinead M. Murphy, Michael Farrell, Aisling M. Ryan, A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family, Neuromuscular Disorders , 25, (2), 2015, p155 - 160 Journal Article, 2015

Küffner R, Zach N, Norel R, Hawe J, Schoenfeld D, Wang L, Li G, Fang L, Mackey L, Hardiman O, Cudkowicz M, Sherman A, Ertaylan G, Grosse-Wentrup M, Hothorn T, van Ligtenberg J, Macke JH, Meyer T, Schölkopf B, Tran L, Vaughan R, Stolovitzky G, Leitner ML, Crowdsourced analysis of clinical trial data to predict amyotrophic lateral sclerosis progression., Nat Biotechnol. , 33, (1), 2015, p51 - 57 Journal Article, 2015 DOI

Iyer P.M, Egan C, Pinto-Grau M, Burke T, Elamin M, Nasseroleslami B, Pender N, Lalor E.C, Hardiman O, Functional connectivity changes in resting-state EEG as potential biomarker for Amyotrophic Lateral Sclerosis, PLoS ONE, 10, (6), 2015, 012868- Journal Article, 2015 URL DOI TARA - Full Text

Bonini NM, Hardiman O., Ataxin-2 expands insight into the ALS clinical spectrum., Neurology, 84, (3), 2015, p224 - 225 Journal Article, 2015 DOI

Burke T, Elamin M, Galvin M, Gallagher L, Hardiman O, Pender N, Erratum: Caregiver burden in amyotrophic lateral sclerosis: a cross-sectional investigation of predictors. [J Neurol, (2015) 262, (1526-1532), DOI 10.1007/s00415-015-7746-z], 2015, - 2799 Miscellaneous, 2015 DOI URL

Bede P, Elamin M, Byrne S, Hardiman O, Sexual dimorphism in ALS: exploring gender-specific neuroimaging signatures., Amyotrophic lateral sclerosis & frontotemporal degeneration, 15, (3-4), 2014, p235-43 Journal Article, 2014 DOI

Bede P Hardiman O, 23. Lessons of ALS imaging: Pitfalls and future directions - A critical review., Neuroimaging Clinical, (4), 2014, p436 - 444 Journal Article, 2014 TARA - Full Text DOI

Fogh, I., Ratti, A., Gellera, C., (...), Powell, J., Silani, V. , A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis, Human Molecular Genetics, 23, (8), 2014, p2220-2231 Journal Article, 2014 DOI

McLaughlin RL, Kenna KP, Vajda A, Byrne S, Bradley DG, Hardiman O, UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland., Neurobiology of aging, 35, (1), 2014, p267.e9-11 Journal Article, 2014 DOI

Foley G, Timonen V, Hardiman O., Why and how do people with motor neurone disease (MND) engage with allied healthcare professionals? Findings from a qualitative study on the service user experience of healthcare services, Physical Therapy Reviews, Rehabilitation and Therapy Research Society 9th Annual Conference, Belfast, June 21 2013, 19, (1), 2014, p47 Conference Paper, 2014 DOI

Murray, D, Hardiman, O, Meldrum, D, Assessment of subjective and motor fatigue in Polio survivors, attending a Postpolio clinic, comparison with healthy controls and an exploration of clinical correlates, PHYSIOTHERAPY THEORY AND PRACTICE, 30, (4), 2014, p229-235 Journal Article, 2014 DOI

Bede, Peter Hardiman, Orla, Lessons of ALS imaging: Pitfalls and future directions - A critical review, NeuroImage: Clinical, 4, 2014, p436 - 443 Journal Article, 2014 TARA - Full Text

Elisabetta Pupillo, Paolo Messina, Giorgia Giussani, Giancarlo Logroscino, Stefano Zoccolella, Adriano Chio, Andrea Calvo, Massimo Corbo, Christian Lunetta, Benoit Marin, Douglas Mitchell, Orla Hardiman, James Rooney, Zorica Stevic, Monica Bandettini di Poggio, Massimiliano Filosto, Maria Sofia Cotelli, Michele Perini, Nilo Riva, Lucio Tremolizzo, Eugenio Vitelli, Danira Damiani, and Ettore Beghi and the EURALS Consortium, Physical Activity and Amyotrophic Lateral Sclerosis: A European Population-Based Case-Control Study, Annals of Neurology, 75, (5), 2014, p708 - 716 Journal Article, 2014 URL TARA - Full Text DOI

Byrne S, Heverin M, Bede P, Elamin M, Hardiman O, Fecundity in ALS., Amyotrophic lateral sclerosis & frontotemporal degeneration, 15, (3-4), 2014, p204-6 Journal Article, 2014 DOI

Diekstra FP1, Van Deerlin VM, van Swieten JC, Al-Chalabi A, Ludolph AC, Weishaupt JH, Hardiman O, Landers JE, Brown RH Jr, van Es MA, Pasterkamp RJ, Koppers M, Andersen PM, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, van Damme P, Melki J, Meininger V, Shatunov A, Shaw CE, Leigh PN, Shaw PJ, Morrison KE, Fogh I, Chiò A, Traynor BJ, Czell D, Weber M, Heutink P, de Bakker PI, Silani V, Robberecht W, van den Berg LH, Veldink JH., C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis, Annals of Neurology, 76, (1), 2014, p120 - 123 Journal Article, 2014

Foley G, Timonen V, Hardiman O., Understanding psycho-social processes underpinning engagement with services in motor neurone disease: A qualitative study, Palliative Medicine, 28, (4), 2014, p318 - 325 Journal Article, 2014 DOI TARA - Full Text

Foley G, Timonen V, Hardiman O., Exerting control and adapting to loss in amyotrophic lateral sclerosis , Social Science & Medicine, 101, 2014, p113 - 119 Journal Article, 2014 TARA - Full Text DOI

van Doormaal PT, Ticozzi N, Gellera C, Ratti A, Taroni F, Chiò A, Calvo A, Mora G, Restagno G, Traynor BJ, Birve A, Lemmens R, van Es MA, Saris CG, Blauw HM, van Vught PW, Groen EJ, Corrado L, Mazzini L, Del Bo R, Corti S, Waibel S, Meyer T, Ludolph AC, Goris A, van Damme P, Robberecht W, Shatunov A, Fogh I, Andersen PM, D'Alfonso S, Hardiman O, Cronin S, Rujescu D, Al-Chalabi A, Landers JE, Silani V, van den Berg LH, Veldink JH, Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study., Neurobiology of aging, 35, (10), 2014, p2420.e13-4 Journal Article, 2014 DOI

Rooney J, Heverin M, Vajda A, Crampsie A, Tobin K, Byrne S, Staines A, Hardiman O., An Exploratory Spatial Analysis of ALS Incidence in Ireland over 17.5 Years (1995 - July 2013)., PLoS One. , 9, (5), 2014, pe96556- Journal Article, 2014 DOI TARA - Full Text

Foley G, Timonen V, Hardiman O., Acceptance and decision making in amyotrophic lateral sclerosis from a life-course perspective, Qualitative Health Research, 24, (1), 2014, p67 - 77 Journal Article, 2014 TARA - Full Text DOI

Ammar Al-Chalabi, Andrea Calvo, Adriano Chio, Shuna Colville, Cathy M Ellis, Orla Hardiman, Mark Heverin, Robin S Howard, Mark H B Huisman, Noa Keren, P Nigel Leigh, Letizia Mazzini, Gabriele Mora, Richard W Orrell, James Rooney, Kirsten M Scott, William J Scotton, Meinie Seelen, Christopher E Shaw, Katie S Sidle, Robert Swingler, Miho Tsuda, Jan H Veldink, Anne E Visser, Leonard H van den Berg, Neil Pearce, Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study, The Lancet Neurology, 13, (11), 2014, p1108 - 1113 Journal Article, 2014 URL TARA - Full Text DOI

Bede P, Walsh R, Fagan AJ, Hardiman O., "Sand-watch" spinal cord: a case of inferior cervical spinal cord atrophy. , Journal of Neurology, 2014, p235-7 Journal Article, 2014

Fahey C, Byrne S, McLaughlin R, Kenna K, Shatunov A, Donohoe G, Gill M, Al-Chalabi A, Bradley DG, Hardiman O, Corvin AP, Morris DW, Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample., Neurobiology of aging, 35, (6), 2014, p1510.e1-1510.e5 Journal Article, 2014 TARA - Full Text DOI

Bede P, Hardiman O, Subcortical gray matter structures: A future biomarker for amyotrophic lateral sclerosis?, Future Neurology, 9, (2), 2014, p109 - 111 Journal Article, 2014 URL DOI

Lefter S, Hardiman O, Costigan D, Lynch B, McConville J, Hand CK, Ryan AM., Andersen-tawil syndrome with early fixed myopathy, Journal of Clinical Neuromuscular Disease, 16, (2), 2014, p79-82 Journal Article, 2014 URL

Authors of Document Lefter, S., Hardiman, O., Ryan, A.M. , Methodology and Design of a National Epidemiological Study on Adult Neuromuscular Disease, Neuroepidemiology, 2014, p123-130 Journal Article, 2014 DOI TARA - Full Text

Fahey C, Byrne S, McLaughlin R, Kenna K, Shatunov A, Donohoe G, Gill M, Al-Chalabi A, Bradley DG, Hardiman O, Corvin AP, Morris DW., Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample., Neurobiol Aging., 35, 2014, p1510.e1-1510.e5 Journal Article, 2014

Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE., Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS., Neuron. , 84, (2), 2014, p324 - 331 Journal Article, 2014 DOI

Bede P1, Bokde AL, Byrne S, Elamin M, McLaughlin RL, Kenna K, Fagan AJ, Pender N, Bradley DG, Hardiman O., Multiparametric MRI study of ALS stratified for the C9orf72 genotype, Neurology, 81, (4), 2013, p361-369 Journal Article, 2013 TARA - Full Text DOI

Byrne S, Pradhan F, Ni Dhubhghaill S, Treacy M, Cassidy L, Hardiman O, Blink rate in ALS., Amyotrophic lateral sclerosis & frontotemporal degeneration, 14, (4), 2013, p291-3 Journal Article, 2013 DOI

Goris A, van Setten J, Diekstra F, Ripke S, Patsopoulos N.A, Sawcer S.J, van Es M, Andersen P.M, Melki J, Meininger V, Hardiman O, Landers J.E, Brown R.H, Shatunov A, Leigh N, Al-Chalabi A, Shaw C.E, Traynor B.J, Chió A, Restagno G, Mora G, Ophoff R.A, Oksenberg J.R, Van Damme P, Compston A, Robberecht W, Dubois B, van den Berg L.H, De Jager P.L, Veldink J.H, de Bakker P.I.W, No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis, Human Molecular Genetics, 23, (7), 2013, p1916 - 1922 Journal Article, 2013 URL DOI

P. Bede, A. Bokde, M. Elamin, S. Byrne, R.L. McLaughlin, N. Jordan, H. Hampel, L. Gallagher, C. Lynch, A.J. Fagan, N. Pender, O. Hardiman, Grey matter correlates of clinical variables in amyotrophic lateral sclerosis (ALS): a neuroimaging study of ALS motor phenotype heterogeneity and cortical focality, Journal of Neurology, Neurosurgery & Psychiatry, 84, (7), 2013, p766 - 773 Journal Article, 2013 DOI

Bede, P, Bokde, ALW, Byrne, S, Elamin, M, McLaughlin, RL, Kenna, K, Fagan, AJ, Pender, N, Bradley, DG, Hardiman, O, Multiparametric MRI study of ALS stratified for the C9orf72 genotype, NEUROLOGY, 81, (4), 2013, p361-369 Journal Article, 2013 DOI

Cudkowicz M.E, van den Berg L.H, Shefner J.M, Mitsumoto H, Mora J.S, Ludolph A, Hardiman O, Bozik M.E, Ingersoll E.W, Archibald D, Meyers A.L, Dong Y, Farwell W.R, Kerr D.A, Dexpramipexole versus placebo for patients with amyotrophic lateral sclerosis (EMPOWER): A randomised, double-blind, phase 3 trial, The Lancet Neurology, 12, (11), 2013, p1059 - 1067 Journal Article, 2013 URL DOI

Bede P, Elamin M, Byrne S, McLaughlin R, Kenna K, Vajda A, Pender N, Bradley DG, Hardiman O, Basal ganglia involvement in Amyotrophic Lateral Sclerosis, Neurology, 81, 2013, p1 - 9 Journal Article, 2013

James Rooney., Susan Byrne, Mark Heverin, Bernie Corr, Marwa Elamin, Anthony Staines, Ben Goldacre, Orla Hardiman, Survival Analysis of Irish Amyotrophic Lateral Sclerosis Patients Diagnosed from 1995-2010, PLOS One, 8, (9), 2013 Journal Article, 2013 URL DOI TARA - Full Text

Kenna, KP, McLaughlin, RL, Hardiman, O, Bradley, DG, Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants, HUMAN MUTATION, 34, (6), 2013, p836-841 Journal Article, 2013 DOI

Bede, P, Elamin, M, Byrne, S, McLaughlin, RL, Kenna, K, Vajda, A, Pender, N, Bradley, DG, Hardiman, O, Basal ganglia involvement in amyotrophic lateral sclerosis, NEUROLOGY, 81, (24), 2013, p2107-2115 Journal Article, 2013

Elamin M, Bede P, Byrne S, Jordan N, Gallagher L, Wynne B, O'Brien C, Phukan J, Lynch C, Pender N, Hardiman O, Cognitive changes predict functional decline in ALS: A population-based longitudinal study., Neurology, 2013 Journal Article, 2013

Byrne S, Heverin M, Elamin M, Walsh C, Hardiman O, Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis., Amyotrophic lateral sclerosis & frontotemporal degeneration, 2013 Journal Article, 2013 DOI

Factor-Litvak P, Al-Chalabi A, Ascherio A, Bradley W, Chío A, Garruto R, Hardiman O, Kamel F, Kasarskis E, McKee A, Nakano I, Nelson L.M, Eisen A, Current pathways for epidemiological research in amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14, (SUPPL1), 2013, p33 - 43 Journal Article, 2013 DOI URL

Bede P, Elamin M, Byrne S, McLaughlin RL, Kenna K, Vajda A, Pender N, Bradley DG, Hardiman O, Basal ganglia involvement in amyotrophic lateral sclerosis., Neurology, 81, (24), 2013, p2107-15 Journal Article, 2013 DOI

Byrne S, Heverin M, Elamin M, Bede P, Lynch C, Kenna K, McLaughlin R, Walsh C, Al Chalabi A, Hardiman O, Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: a population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis., Annals of neurology, 74, (5), 2013, p699-708 Journal Article, 2013 DOI

Turner M.R, Hardiman O, Benatar M, Brooks B.R, Chio A, De Carvalho M, Ince P.G, Lin C, Miller R.G, Mitsumoto H, Nicholson G, Ravits J, Shaw P.J, Swash M, Talbot K, Traynor B.J, Van Den Berg L.H, Veldink J.H, Vucic S, Kiernan M.C, Controversies and priorities in amyotrophic lateral sclerosis, The Lancet Neurology, 12, (3), 2013, p310 - 322 Journal Article, 2013 URL DOI

Kenna KP, McLaughlin RL, Byrne S, Elamin M, Heverin M, Kenny EM, Cormican P, Morris DW, Donaghy CG, Bradley DG, Hardiman O, Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing., Journal of medical genetics, 50, (11), 2013, p776-83 Journal Article, 2013 DOI TARA - Full Text

Byrne S, Jordan I, Elamin M, Hardiman O, Age at onset of amyotrophic lateral sclerosis is proportional to life expectancy., Amyotrophic lateral sclerosis & frontotemporal degeneration, 14, (7-8), 2013, p604-7 Journal Article, 2013 DOI

Kenna, K.P., Mclaughlin, R.L., Hardiman, O., Bradley, D.G., Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants, Human Mutation, 34, (6), 2013, p836-841 Journal Article, 2013 DOI

Hardiman O, Multidisciplinary care in ALS: Expanding the team, Amyotrophic Lateral Sclerosis, 13, (2), 2012, p165- Journal Article, 2012 DOI URL

Foley G, Timonen V, Hardiman O, Experience of services as a key outcome in amyotrophic lateral sclerosis (ALS) care: the case for a better understanding of patient experiences., The American journal of hospice & palliative care, 29, (5), 2012, p362-7 Journal Article, 2012 DOI

Foley G, Timonen V, Hardiman O., Patients' perceptions of services and preferences for care in amyotrophic lateral sclerosis: A review, Amyotrophic Lateral Sclerosis, 13, (1), 2012, p11 - 24 Journal Article, 2012 DOI TARA - Full Text

Bede P, Bokde AL, Byrne S, Elamin M, Fagan AJ, Hardiman O, Spinal cord markers in ALS: Diagnostic and biomarker considerations., Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 13, (5), 2012, p407-15 Journal Article, 2012 DOI

Elamin M, Pender N, Hardiman O, Abrahams S, Social cognition in neurodegenerative disorders: a systematic review., Journal of neurology, neurosurgery, and psychiatry, 83, (11), 2012, p1071-9 Journal Article, 2012 DOI

P. Bede, A.L. Bokde, S. Byrne, M. Elamin, A.J. Fagan, O. Hardiman, Spinal cord markers in ALS - diagnostic and biomarker considerations, Amyotrophic Lateral Sclerosis, 13, 2012, p407 - 415 Review Article, 2012 TARA - Full Text

Diekstra F.P, Saris C.G.J, van Rheenen W, Franke L, Jansen R.C, van Es M.A, van Vught P.W.J, Blauw H.M, Groen E.J.N, Horvath S, Estrada K, Rivadeneira F, Hofman A, Uitterlinden A.G, Robberecht W, Andersen P.M, Melki J, Meininger V, Hardiman O, Landers J.E, Brown Jr. R.H, Shatunov A, Shaw C.E, Leigh P.N, Al-Chalabi A, Ophoff R.A, van den Berg L.H, Veldink J.H, Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS, PLoS ONE, 7, (4), 2012 Journal Article, 2012 URL DOI

Bede P, Bokde A, Elamin M, Byrne S, McLaughlin RL, Jordan N, Hampel H, Gallagher L, Lynch C, Fagan AJ, Pender N, Hardiman O, Grey matter correlates of clinical variables in amyotrophic lateral sclerosis (ALS): a neuroimaging study of ALS motor phenotype heterogeneity and cortical focality., Journal of neurology, neurosurgery, and psychiatry, 84, (7), 2012, p766-73 Journal Article, 2012 DOI

Byrne S, Elamin M, Bede P, Hardiman O, Absence of consensus in diagnostic criteria for familial neurodegenerative diseases., Journal of neurology, neurosurgery, and psychiatry, 83, (4), 2012, p365-7 Journal Article, 2012 DOI

Murray D1, Meldrum D, Moloney R, Campion A, Horgan F, Hardiman O., The effects of a home-based arm ergometry exercise programme on physical fitness, fatigue and activity in polio survivors: Protocol for a randomised controlled trial, BMC Neurology, 12, 2012, p157- Journal Article, 2012 TARA - Full Text DOI

Andersen P.M, Abrahams S, Borasio G.D, de Carvalho M, Chio A, Van Damme P, Hardiman O, Kollewe K, Morrison K.E, Petri S, Pradat P.-F, Silani V, Tomik B, Wasner M, Weber M, EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) - revised report of an EFNS task force, European Journal of Neurology, 19, (3), 2012, p360 - 375 Journal Article, 2012 URL DOI

Pupillo E, Messina P, Logroscino G, Zoccolella S, Chiò A, Calvo A, Corbo M, Lunetta C, Micheli A, Millul A, Vitelli E, Beghi E, Bissolati M, Formaglio F, Gerardi F, Giussani G, Lunetta C, Maestri E, Millul A, Prelle A, Protti A, Riva N, Santoro D, Al-Chalabi A, Chiò A, Berro A.C, De Mercanti S, Giacone S, Ilardi A, Hardiman O, Logroscino G, Capozzo R, Zoccolella S, Ludolph A, Mitchell D, Preux P.-M, Swingler R, van den Berg L, Alvisi E, Cereda C, Ceroni M, Citterio A, di Poggio M.B, Caponnetto C, Buzzi P, Colombo I, Corbo M, Cotelli M.S, Filosto M, Micheli A, Padovani A, De Lodovici L, Ferrarese C, Tremolizzo L, Fetoni V, Palazzini E, Guaita M.C, Perrone P, Secchi P, Lorusso L, Sidoti V, Perini M, Tavernelli F, Rigamonti A, Vitelli E, Trauma and amyotrophic lateral sclerosis: A case-control study from a population-based registry, European Journal of Neurology, 19, (12), 2012, p1509 - 1517 Journal Article, 2012 URL DOI

Hardiman O, Figlewicz D.A, The expansions of ALS, Neurology, 79, (9), 2012, p842 - 843 Journal Article, 2012 DOI URL

Phukan J, Elamin M, Bede P, Jordan N, Gallagher L, Byrne S, Lynch C, Pender N, Hardiman O, The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study., Journal of neurology, neurosurgery, and psychiatry, 83, (1), 2012, p102-8 Journal Article, 2012 DOI

Bedlack R, Hardiman O, Bertorini T, Mozaffar T, Andersen P, Dietz J, Gamez J, Dimachkie M, Wang Y, Wicks P, Heywood J, Novella S, Rowland L.P, Pioro E, Kinsley L, Mitchell K, Glass J, Sathornsumetee S, Kwiecinski H, Baker J, Atassi N, Forshew D, Ravits J, Conwit R, Jackson C, Sherman A, Dalton K, Tindall K, Gonzalez G, Robertson J, Phillips L, Benatar M, Sorenson E, Shoesmith C, Nash S, Marigakis N, Moore D, Caress J, Boylan K, Armon C, Grosso M, Gerecke B, Wymer J, Oskarsson B, Bowser R, Drory V, Shefner J, Heiman-Patterson T, Lechtzin N, Leitner M, Miller R, Mitsumoto H, Levine T, Russell J, Sharma K, Saperstein D, McClusky L, MacGowan D, Licht J, Verma A, Strong M, Lomen-Hoerth C, Tandan R, Rivner M, Kolb S, Polak M, Rudnicki S, Kittrell P, Quereshi M, Sachs G, Pattee G, Weiss M, Kissel J, Goldstein J, Rothstein J, Pastula D, ALSUntangled No. 16: Cannabis, Amyotrophic Lateral Sclerosis, 13, (4), 2012, p400 - 404 Journal Article, 2012 URL DOI

Foley G, Timonen V, Hardiman O., Experience of services as a key outcome in amyotrophic lateral sclerosis (ALS) care. The case for a better understanding of patient experiences, American Journal of Hospice and Palliative Medicine, 29, (5), 2012, p362 - 367 Journal Article, 2012 TARA - Full Text DOI

Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, Heverin M, Jordan N, Kenna K, Lynch C, McLaughlin RL, Iyer PM, O'Brien C, Phukan J, Wynne B, Bokde AL, Bradley DG, Pender N, Al-Chalabi A, Hardiman O, Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study., Lancet neurology, 11, (3), 2012, p232-40 Journal Article, 2012 DOI

Kiernan M.C, Vucic S, Cheah B.C, Turner M.R, Eisen A, Hardiman O, Burrell J.R, Zoing M.C, Amyotrophic lateral sclerosis, The Lancet, 377, (9769), 2011, p942 - 955 Journal Article, 2011 URL DOI

Bede P, Oliver D, Stodart J, van den Berg L, Simmons Z, Brannagáin DÓ, Borasio GD, Hardiman O., Palliative care in amyotrophic lateral sclerosis: a review of current international guidelines and initiatives, BMJ Support Palliat Care, 1, (3), 2011, p343 - 348 Journal Article, 2011

Beghi E, Pupillo E, Messina P, Giussani G, Chiò A, Zoccolella S, Moglia C, Corbo M, Logroscino G, Al-Chalabi A, Hardiman O, Ludolph A, Mitchell D, Preux P.-M, Swingler R, Traynor B.J, Alvisi E, Cereda C, Ceroni M, Citterio A, di Poggio M.B, Caponnetto C, Bissolati M, Buzzi P, Colombo I, Formaglio F, Lunettam C, Maestri E, Millul A, Prelle A, Protti A, Riva N, Santoro D, Capozzo R, Berro A.C, Cammarosano S, Giacone S, Ilardi A, Cotelli M.S, Filosto M, Micheli A, Padovani A, De Lodovici L, Ferrarese C, Tremolizzo L, Fetoni V, Palazzini E, Guaita M.C, Perrone P, Secchi P, Lorusso L, Sidoti V, Perini M, Tavernelli F, Rigamonti A, Vitelli E, Coffee and amyotrophic lateral sclerosis: A possible preventive role, American Journal of Epidemiology, 174, (9), 2011, p1002 - 1008 Journal Article, 2011 URL DOI

Byrne S, Walsh C, Lynch C, Bede P, Elamin M, Kenna K, McLaughlin R, Hardiman O, Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis., Journal of neurology, neurosurgery, and psychiatry, 82, (6), 2011, p623 - 627 Journal Article, 2011 URL DOI TARA - Full Text

Geser F, Prvulovic D, O'Dwyer L, Hardiman O, Bede P, Bokde AL, Trojanowski JQ, Hampel H, On the development of markers for pathological TDP-43 in amyotrophic lateral sclerosis with and without dementia., Progress in neurobiology, 95, (4), 2011, p649-62 Journal Article, 2011

Hardiman O, Management of respiratory symptoms in ALS., Journal of neurology, 258, (3), 2011, p359-65 Journal Article, 2011 DOI

Hardiman O, Amyotrophic lateral sclerosis and vascular risk: A metabolic conundrum, Journal of Neurology, Neurosurgery and Psychiatry, 82, (6), 2011, p591- Journal Article, 2011 DOI URL

F. Geser, L. O'Dwyer, O. Hardiman, P. Bede, A.L.W. Bokde, D. Prvulovic, John Q. Trojanowski, H. Hampel, On the development of markers for pathological TDP-43 in amyotrophic lateral sclerosis with and without dementia, Progress in Neurobiology, 95, (4), 2011, p649-662 Journal Article, 2011 TARA - Full Text

Hardiman O, van den Berg LH, Kiernan MC, Clinical diagnosis and management of amyotrophic lateral sclerosis., Nature reviews. Neurology, 7, (11), 2011, p639-49 Journal Article, 2011 DOI

Bede P, Bokde AL, Byrne SC, Elamin M, Walsh RJ, Hardiman O, Waterskier's Hirayama syndrome, Journal of Neurology, 258, (11), 2011, p2078 - 2079 Journal Article, 2011 DOI

Byrne S, Bede P, Elamin M, Kenna K, Lynch C, McLaughlin R, Hardiman O, Proposed criteria for familial amyotrophic lateral sclerosis., Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 12, (3), 2011, p157-9 Journal Article, 2011 DOI

Peter Bede, David Oliver, James Stodart, Leonard van den Berg, Zachary Simmons, Doiminic Ó Brannagáin, Gian Domenico Borasio, Orla Hardiman, Palliative care in amyotrophic lateral sclerosis: a review of current international guidelines and initiatives, Journal of Neurology Neurosurgery and Psychiatry, 82, 2011, p413-418 Journal Article, 2011 TARA - Full Text

Beghi E, Chiò A, Couratier P, Esteban J, Hardiman O, Logroscino G, Millul A, Mitchell D, Preux P.-M, Pupillo E, Stevic Z, Swingler R, Traynor B.J, Van Den Berg L.H, Veldink J.H, Zoccolella S, The epidemiology and treatment of ALS: Focus on the heterogeneity of the disease and critical appraisal of therapeutic trials, Amyotrophic Lateral Sclerosis, 12, (1), 2011, p1 - 10 Journal Article, 2011 URL DOI

Barry H, Hardiman O, Healy D.G, Keogan M, Moroney J, Molnar P.P, Cotter D.R, Murphy K.C, Anti-NMDA receptor encephalitis: An important differential diagnosis in psychosis, British Journal of Psychiatry, 199, (6), 2011, p508 - 509 Journal Article, 2011 URL DOI

Elamin M, Phukan J, Bede P, Jordan N, Byrne S, Pender N, Hardiman O, Executive dysfunction is a negative prognostic indicator in patients with ALS without dementia., Neurology, 76, (14), 2011, p1263-9 Journal Article, 2011 DOI

Phukan J, Ali E, Pender N.P, Molloy F, Hennessy M, Walsh R.J, Hardiman O, Huntington's disease presenting as amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 11, (4), 2010, p405 - 407 Journal Article, 2010 DOI URL

Shatunov A, Mok K, Newhouse S, Weale M.E, Smith B, Vance C, Johnson L, Veldink J.H, van Es M.A, van den Berg L.H, Robberecht W, Van Damme P, Hardiman O, Farmer A.E, Lewis C.M, Butler A.W, Abel O, Andersen P.M, Fogh I, Silani V, Chiò A, Traynor B.J, Melki J, Meininger V, Landers J.E, McGuffin P, Glass J.D, Pall H, Leigh P.N, Hardy J, Brown R.H, Powell J.F, Orrell R.W, Morrison K.E, Shaw P.J, Shaw C.E, Al-Chalabi A, Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: A genome-wide association study, The Lancet Neurology, 9, (10), 2010, p986 - 994 Journal Article, 2010 URL DOI

Russell Lewis McLaughlin, Julie Phukan, William McCormack, David S. Lynch, Matthew Greenway, Simon Cronin, Jean Saunders, Agnieska Slowik, Barbara Tomik, Peter M. Andersen, Daniel G. Bradley, Phil Jakeman, Orla Hardiman, Angiogenin Levels and ANG Genotypes: Dysregulation in Amyotrophic Lateral Sclerosis, PloS ONE, 5, (11), 2010, pe15402 Journal Article, 2010 TARA - Full Text

O'Doherty L.J, Hickey A, Hardiman O, Measuring life quality, physical function and psychological well-being in neurological illness, Amyotrophic Lateral Sclerosis, 11, (5), 2010, p461 - 468 Journal Article, 2010 DOI URL

Byrne S, Hardiman O, Willful modulation of brain activity in disorders of consciousness., The New England journal of medicine, 362, (20), 2010, p579-589 Journal Article, 2010 URL

Blauw H.M, Al-Chalabi A, Andersen P.M, van Vught P.W, Diekstra F.P, van Es M.A, Saris C.G, Groen E.J, van Rheenen W, Koppers M, Slot R.v, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden A.G, Kiemeney L.A, Vermeulen S.H, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin R.L, Hardiman O, Sapp P.C, Tobin M.D, Wain L.V, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown Jr. R.H, Landers J.E, Robberecht W, Ludolph A.C, Ophoff R.A, Veldink J.H, van den Berg L.H, A large genome scan for rare CNVs in amyotrophic lateral sclerosis, Human Molecular Genetics, 19, (20), 2010, p4091 - 4099 Journal Article, 2010 URL DOI

Beghi E, Logroscino G, Chiò A, Hardiman O, Millul A, Mitchell D, Swingler R, Traynor B.J, Amyotrophic lateral sclerosis, physical exercise, trauma and sports: Results of a population-based pilot case-control study, Amyotrophic Lateral Sclerosis, 11, (3), 2010, p289 - 292 Journal Article, 2010 DOI URL

Donaghy C, Clarke J, Patterson C, Kee F, Hardiman O, Patterson V, The epidemiology of motor neuron disease in Northern Ireland using capture-recapture methodology, Amyotrophic Lateral Sclerosis, 11, (4), 2010, p374 - 378 Journal Article, 2010 DOI URL

Logroscino G, Traynor B.J, Hardiman O, Chió A, Mitchell D, Swingler R.J, Millul A, Benn E, Beghi E, Incidence of amyotrophic lateral sclerosis in Europe, Journal of Neurology, Neurosurgery and Psychiatry, 81, (4), 2010, p385 - 390 Journal Article, 2010 DOI URL

Donaghy C, Pinnock R, Abrahams S, Cardwell C, Hardiman O, Patterson V, McGivern R.C, Gibson J.M, Slow saccades in bulbar-onset motor neurone disease, Journal of Neurology, 257, (7), 2010, p1134 - 1140 Journal Article, 2010 URL DOI

Tong P, Prendergast JG, Lohan AJ, Farrington SM, Cronin S, Friel N, Bradley DG, Hardiman O, Evans A, Wilson JF, Loftus B, Sequencing and analysis of an Irish human genome., Genome Biology, 11, (9), 2010, pR91 Journal Article, 2010 URL DOI TARA - Full Text

Fallis B.A, Hardiman O, Aggregation of neurodegenerative disease in ALS kindreds, Amyotrophic Lateral Sclerosis, 10, (2), 2009, p95 - 98 Journal Article, 2009 URL DOI

Cronin, S, Tomik, B, Bradley, DG, Slowik, A, Hardiman, O, Screening for replication of genome-wide SNP associations in sporadic ALS., European journal of human genetics : EJHG, 17, (2), 2009, p213 - 218 Journal Article, 2009 DOI

Van Es M.A, Veldink J.H, Saris C.G.J, Blauw H.M, Van Vught P.W.J, Birve A, Lemmens R, Schelhaas H.J, Groen E.J.N, Huisman M.H.B, Van Der Kooi A.J, De Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts M.J, Van Doormaal P.T.C, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden A.G, Hendrich C, Waibel S, Meyer T, Ludolph A.C, Glass J.D, Purcell S, Cichon S, Nöthen M.M, Wichmann H.-E, Schreiber S, Vermeulen S.H.H.M, Kiemeney L.A, Wokke J.H.J, Cronin S, McLaughlin R.L, Hardiman O, Fumoto K, Pasterkamp R.J, Meininger V, Melki J, Leigh P.N, Shaw C.E, Landers J.E, Al-Chalabi A, Brown R.H, Robberecht W, Andersen P.M, Ophoff R.A, Van Den Berg L.H, Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis, Nature Genetics, 41, (10), 2009, p1083 - 1087 Journal Article, 2009 DOI URL

O'Connor G, King M, Salomons G, Jakobs C, Hardiman O, A novel mutation as a cause of L-2-hydroxyglutaric aciduria, Journal of Neurology, 256, (4), 2009, p672 - 673 Journal Article, 2009 DOI URL

Landers J.E, Melki J, Meininger V, Glass J.D, Van Den Berg L.H, Van Es M.A, Sapp P.C, Van Vught P.W.J, McKenna-Yasek D.M, Blauw H.M, Cho T.-J, Polak M, Shi L, Wills A.-M, Broom W.J, Ticozzi N, Silani V, Ozoguz A, Rodriguez-Leyva I, Veldink J.H, Ivinson A.J, Saris C.G.J, Hosler B.A, Barnes-Nessa A, Couture N, Wokke J.H.J, Kwiatkowski Jr. T.J, Ophoff R.A, Cronin S, Hardiman O, Diekstra F.P, Leigh P.N, Shaw C.E, Simpson C.L, Hansen V.K, Powell J.F, Corcia P, Salachas F, Heath S, Galan P, Georges F, Horvitz H.R, Lathrop M, Purcell S, Al-Chalabi A, Brown Jr. R.H, Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis, Proceedings of the National Academy of Sciences of the United States of America, 106, (22), 2009, p9004 - 9009 Journal Article, 2009 DOI URL

Hardiman O, Ten years of the ALS journal, Amyotrophic Lateral Sclerosis, 10, (5-6), 2009, p257- Journal Article, 2009 DOI URL

Mohammad A.F, Khan K.A, Galvin L, Hardiman O, O'Connell P.G, High incidence of osteoporosis and fractures in an aging post-polio population, European Neurology, 62, (6), 2009, p369 - 374 Journal Article, 2009 URL DOI

Giovannoni G, Barbarash O, Casset-Semanaz F, King J, Metz L, Pardo G, Simsarian J, SÞrensen P.S, Stubinski B, Carra A, Cristiano E, Luetic G, Rodriguez Alfici A, Cruz G, Vetere S, Pollard J, Boundy K, Sedal L, Butzkueven H, MacDonnell R, Metz L.M, Zabad R.K, Soelberg SÞrensen P, Hardiman O, Tubridy N, Karussis D, Achiron A, Vaitkus A, Kizlaitiene R, Lesnyak O, Zaslavsky L, Poverennova I, Sidorov P, Khasanova D, Alifirova V, Casanova B, Balyazin V, Lutsky M, Rodríguez-AntigÌedad A, García-Merino J, Arroyo R, Olsson T, Barnes D, Young C, O'Riordan J, Malik O, Armstrong R, Sheppard C, Thrower B, Wray S, Gross J, Wynn D, Miller T, Garmany G, Sherman M, Safety and immunogenicity of a new formulation of interferon β-1a (Rebif® New Formulation) in a Phase IIIb study in patients with relapsing multiple sclerosis: 96-week results, Multiple Sclerosis, 15, (2), 2009, p219 - 228 Journal Article, 2009 DOI URL

Van Es M.A, Van Vught P.W.J, Veldink J.H, Andersen P.M, Birve A, Lemmens R, Cronin S, Van Der Kooi A.J, De Visser M, Schelhaas H.J, Hardiman O, Ragoussis I, Lambrechts D, Robberecht W, Wokke J.H.J, Ophoff R.A, Van Den Berg L.H, Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis, 10, (5-6), 2009, p441 - 447 Journal Article, 2009 URL DOI

O'Sullivan E.P, Behan L.-A, King T.F.J, Hardiman O, Smith D, A case of stiff-person syndrome, type 1 diabetes, celiac disease and dermatitis herpetiformis, Clinical Neurology and Neurosurgery, 111, (4), 2009, p384 - 386 Journal Article, 2009 URL DOI

Phukan J, Hardiman O, The management of amyotrophic lateral sclerosis., Journal of neurology, 256, (2), 2009, p176-86 Journal Article, 2009 DOI

Zaldivar T, Gutierrez J, Lara G, Carbonara M, Logroscino G, Hardiman O, Reduced frequency of ALS in an ethnically mixed population: A population-based mortality study, Neurology, 72, (19), 2009, p1640 - 1645 Journal Article, 2009 URL DOI

O'Toole O, Traynor B.J, Brennan P, Sheehan C, Frost E, Corr B, Hardiman O, Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004, Journal of Neurology, Neurosurgery and Psychiatry, 79, (1), 2008, p30 - 32 Journal Article, 2008 DOI URL

Del Barco D.G, Berlanga Acosta J, Penton Arias E, Hardiman O, Montero E, Boosting controlled autoimmunity: A new therapeutic target for CNS disorders, Expert Review of Neurotherapeutics, 8, (5), 2008, p819 - 825 Journal Article, 2008 DOI URL

Meldrum D, Cahalane E, Conroy R, Fitzgerald D, Hardiman O, Erratum: Maximum voluntary isometric contraction: Reference values and clinical application (Amyotrophic Lateral Sclerosis (2007) vol. 8 (47-55)), Amyotrophic Lateral Sclerosis, 9, (1), 2008, p63- Journal Article, 2008 DOI URL

Meisler M.H, Russ C, Montgomery K.T, Greenway M, Ennis S, Hardiman O, Figlewicz D.A, Quenneville N.R, Conibear E, Brown Jr. R.H, Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS, Amyotrophic Lateral Sclerosis, 9, (3), 2008, p141 - 148 Journal Article, 2008 URL DOI

Donaghy C, Dick A, Hardiman O, Patterson V, Timeliness of diagnosis in Motor Neurone Disease: A population-based study, Ulster Medical Journal, 77, (1), 2008, p18 - 21 Journal Article, 2008 URL

Cronin, S, Berger, S, Ding, J, Schymick, JC, Washecka, N, Hernandez, DG, Greenway, MJ, Bradley, DG, Traynor, BJ, Hardiman, O, A genome-wide association study of sporadic ALS in a homogenous Irish population., Human molecular genetics, 17, (5), 2008, p768-74 Journal Article, 2008 DOI

Kollewe K, Andersen P.M, Borasio G.D, Hardiman O, Leigh P.N, Pradat P.F, Silani V, Tomik B, Dengler R, Good practice in the management of amyotrophic lateral sclerosis: Clinical guidelines. An evidence-based review with good practice points from the EALSC working group, Nervenheilkunde, 27, (4), 2008, p302 - 316 Journal Article, 2008 URL

Chiò A, Traynor B.J, Swingler R, Mitchell D, Hardiman O, Mora G, Beghi E, Logroscino G, Amyotrophic lateral sclerosis and soccer: A different epidemiological approach strengthen the previous findings, Journal of the Neurological Sciences, 269, (1-2), 2008, p187 - 188 Journal Article, 2008 URL DOI

Cronin, S, Blauw, HM, Veldink, JH, van Es, MA, Ophoff, RA, Bradley, DG, van den Berg, LH, Hardiman, O, Analysis of genome-wide copy number variation in Irish and Dutch ALS populations., Human molecular genetics, 17, (21), 2008, p392-8 Journal Article, 2008 DOI

Broom W.J, Greenway M, Sadri-Vakili G, Russ C, Auwarter K.E, Glajch K.E, Dupre N, Swingler R, Purcell S, Hayward C, Sapp P, McKenna-Yasek D, Valdmanis P, Bouchard J.-P, Meininger V, Hosler B.A, Glass J, Polack M, Rouleau G, Cha J.-H, Hardiman O, Brown Jr. R, 50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis, 9, (4), 2008, p229 - 237 Journal Article, 2008 DOI URL

Hardiman O, A new editor for the "black but not bleak" journal - ALS research is coming of age, Amyotrophic Lateral Sclerosis, 9, (1), 2008, p3- Journal Article, 2008 URL DOI

McKeon A, Ozelius L.J, Hardiman O, Greenway M.J, Pittock S.J, Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-Parkinsonism kindred, Movement Disorders, 22, (9), 2007, p1325 - 1327 Journal Article, 2007 DOI URL

Schymick J.C, Yang Y, Andersen P.M, Vonsattel J.P, Greenway M, Momeni P, Elder J, Chiò A, Restagno G, Robberecht W, Dahlberg C, Mukherjee O, Goate A, Graff-Radford N, Caselli R.J, Hutton M, Gass J, Cannon A, Rademakers R, Singleton A.B, Hardiman O, Rothstein J, Hardy J, Traynor B.J, Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes, Journal of Neurology, Neurosurgery and Psychiatry, 78, (7), 2007, p754 - 756 Journal Article, 2007 URL DOI

Foley G, O'Mahony P, Hardiman O., Perceptions of quality of life in people with ALS: effects of coping and health care, Amyotrophic Lateral Sclerosis, 8, (3), 2007, p164 - 169 Journal Article, 2007 DOI

Hardiman O, Greenway M, The complex genetics of amyotrophic lateral sclerosis, Lancet Neurology, 6, (4), 2007, p291 - 292 Journal Article, 2007 DOI URL

Hardiman O, Cronin S, Traynor B.J, Reply from the authors [8], Neurology, 69, (7), 2007, p711 - 712 Journal Article, 2007 URL DOI

Beghi E, Mennini T, Bendotti C, Bigini P, Logroscino G, Chiò A, Hardiman O, Mitchell D, Swingler R, Traynor B.J, Al-Chalabi A, The heterogeneity of amyotrophic lateral sclerosis: A possible explanation of treatment failure, Current Medicinal Chemistry, 14, (30), 2007, p3185 - 3200 Journal Article, 2007 DOI URL

Logroscino G, Beghi E, Hardiman O, Chio A, Mitchell J.D, Swingler R.J, Traynor B, Effect of referral bias on assessing survival in ALS [5], Neurology, 69, (9), 2007, p939- Journal Article, 2007 DOI URL

Ryan A.M, Ryan J, Wan-Ahmed M, Hardiman O, Farrell M.A, McNamara B, Sweeney B.J, Vacuolar leucoencephalopathy and pulvinar sign in association with coeliac disease [1], Journal of Neurology, Neurosurgery and Psychiatry, 78, (1), 2007, p98 - 99 Journal Article, 2007 DOI URL

Hosback S, Hardiman O, Nolan C.M, Doyle M.A.C, Gorman G, Lynch C, O'Toole O, Jakeman P, Circulating insulin-like growth factors and related binding proteins are selectively altered in amyotrophic lateral sclerosis and multiple sclerosis, Growth Hormone and IGF Research, 17, (6), 2007, p472 - 479 Journal Article, 2007 DOI URL

Cronin S, Greenway M.J, Prehn J.H.M, Hardiman O, Paraoxonase promoter and intronic variants modify risk of sporadic amyotrophic lateral sclerosis, Journal of Neurology, Neurosurgery and Psychiatry, 78, (9), 2007, p984 - 986 Journal Article, 2007 DOI URL

Phukan J, Pender N.P, Hardiman O, Cognitive impairment in amyotrophic lateral sclerosis, Lancet Neurology, 6, (11), 2007, p994 - 1003 Journal Article, 2007 URL DOI

Meldrum D, Cahalane E, Conroy R, Fitzgerald D, Hardiman O, Maximum voluntary isometric contraction: Reference values and clinical application, Amyotrophic Lateral Sclerosis, 8, (1), 2007, p47 - 55 Journal Article, 2007 DOI URL

Beghi E, Logroscino G, Chiò A, Hardiman O, Mitchell D, Swingler R, Traynor B.J, The epidemiology of ALS and the role of population-based registries, Biochimica et Biophysica Acta - Molecular Basis of Disease, 1762, (11-12), 2006, p1150 - 1157 Journal Article, 2006 DOI URL

Greenway M.J, Andersen P.M, Russ G, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison K.E, Green A, Acharya K.R, Brown Jr. R.H, Hardiman O, ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis, Nature Genetics, 38, (4), 2006, p411 - 413 Journal Article, 2006 DOI URL

O'Sullivan P.J, Gorman G.M, Hardiman O.M, Farrell M.J, Logan P.M, Sonographically guided percutaneous muscle biopsy in diagnosis of neuromuscular disease: A useful alternative to open surgical biopsy, Journal of Ultrasound in Medicine, 25, (1), 2006, p1 - 6 Journal Article, 2006 URL

Momeni P, Schymick J, Jain S, Cookson M.R, Cairns N.J, Greggio E, Greenway M.J, Berger S, Pickering-Brown S, Chiò A, Fung H.C, Holtzman D.M, Huey E.D, Wassermann E.M, Adamson J, Hutton M.L, Rogaeva E, St. George-Hyslop P, Rothstein J.D, Hardiman O, Grafman J, Singleton A, Hardy J, Traynor B.J, Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD, BMC Neurology, 6, 2006 Journal Article, 2006 URL DOI

Parkinson N, Ince P.G, Smith M.O, Highley R, Skibinski G, Andersen P.M, Morrison K.E, Pall H.S, Hardiman O, Collinge J, Shaw P.J, Fisher E.M.C, ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B), Neurology, 67, (6), 2006, p1074 - 1077 Journal Article, 2006 URL DOI

Cahill C.M, Hardiman O, Murphy K.C, Treatment of refractory chronic daily headache with the atypical antipsychotic ziprasidone - A case series, Cephalalgia, 25, (10), 2005, p822 - 826 Journal Article, 2005 URL DOI

Morgan R.K, McNally S, Alexander M, Conroy R, Hardiman O, Costello R.W, Use of sniff nasal-inspiratory force to predict survival in amyotrophic lateral sclerosis, American Journal of Respiratory and Critical Care Medicine, 171, (3), 2005, p269 - 274 Journal Article, 2005 DOI URL

Zaldívar T, Montejo Y, Acevedo A.M, Guerra R, Vargas J, Garofalo N, Alvarez R, Alvarez M.A, Hardiman O, Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population, Neurology, 65, (4), 2005, p636 - 638 Journal Article, 2005 URL DOI

Hardiman O, Hickey A, O'Donerty L.J, Physical decline and quality of life in amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 5, (4), 2004, p230 - 234 Journal Article, 2004 URL DOI

O'Doherty L.J, Mickey A, Hardiman O, Quality of life in neurological illness: Generic versus individualised indicators, Psychology and Health, 19, (SUPPL. 1), 2004, p124- Journal Article, 2004 URL

Sattin J.A, Login I.S, Cassidy E.M, Hardiman O, Dinan T, O'Keane V, Buspirone challenge is not a valid probe of central 5-HT1A receptor function (multiple letters), Cephalalgia, 24, (6), 2004, p510 - 512 Journal Article, 2004 URL DOI

Hutchinson M, Galvin R, Sweeney B, Lynch T, Murphy R, Redmond J, Traynor B.J, Hardiman O, Effect of a multidisciplinary clinic on survival in amyotrophic lateral sclerosis [2] (multiple letters), Journal of Neurology, Neurosurgery and Psychiatry, 75, (8), 2004, p1208 - 1209 Journal Article, 2004 DOI URL

Meldrum D, Pittock S.J, Hardiman O, Ni Dhuill C, O'Regan M, Moroney J.T, Recovery of the upper limb post ischaemic stroke and the predictive value of the Orpington Prognostic Score, Clinical Rehabilitation, 18, (6), 2004, p694 - 702 Journal Article, 2004 DOI URL

Kidney D, Alexander M, Corr B, O'Toole O, Hardiman O, Oropharyngeal dysphagia in amyotrophic lateral sclerosis: Neurological and dysphagia specific rating scales, Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 5, (3), 2004, p150 - 153 Journal Article, 2004 URL DOI

Browne L, Hardiman O, O'Dwyer H, Farrell M, Intracranial giant cell arteritis with fatal middle cerebral artery territory infarct, Clinical Neuropathology, 22, (4), 2003, p199 - 203 Journal Article, 2003 URL

Cassidy EM, Tomkins E, Sharifi N, Dinan T, Hardiman O, O'Keane V, Differing central amine receptor sensitivity in different migraine subtypes? A neuroendocrine study using buspirone., Pain, 101, (3), 2003, p283-90 Journal Article, 2003

Ryan A, Nor A.M, Costigan D, Foley-Nolan D, El-Rafie A, Farrell M.A, Hardiman O, Polymyositis masquerading as motor neuron disease, Archives of Neurology, 60, (7), 2003, p1001 - 1003 Journal Article, 2003 DOI URL

Traynor B.J, Alexander M, Corr B, Frost E, Hardiman O, Effect of a multidisciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: A population based study, 1996-2000, Journal of Neurology, Neurosurgery and Psychiatry, 74, (9), 2003, p1258 - 1261 Journal Article, 2003 URL DOI

Norquist J.M, Jenkinson C, Fitzpatrick R, Swash M, Aarli J.A, Burgunder J.-M, Evangelista T, Fitzpatrick R, Genthon R, Hardiman O, Illa I, Jenkinson C, Leigh P.N, Ludin H.-P, Mazzini L, Meininger V, Mora J.S, Ortega M, Papapetropoulos T, Peto V, Pongratz D, Pouget J, Robberecht W, Ronnevi L.-O, Sales-Luis M, Silani V, Swash M, Wokke J.H.J, Werdelin L, Zierz S, Factors which predict physical and mental health status in patients with amyotrophic lateral sclerosis over time, Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 4, (2), 2003, p112 - 117 Journal Article, 2003 URL DOI

Cassidy EM, Tomkins E, Hardiman O, O'Keane V, Factors associated with burden of primary headache in a specialty clinic., Headache, 43, (6), 2003, p638-44 Journal Article, 2003

Cassidy EM, Tomkins E, Dinan T, Hardiman O, O'Keane V, Central 5-HT receptor hypersensitivity in migraine without aura., Cephalalgia : an international journal of headache, 23, (1), 2003, p29-34 Journal Article, 2003

Pittock S.J, Meldrum D, Dhuill C.N, Hardiman O, Moroney J.T, The Orpington Prognostic Scale Within the First 48 Hours of Admission as a Predictor of Outcome in Ischemic Stroke, Journal of Stroke and Cerebrovascular Diseases, 12, (4), 2003, p175 - 181 Journal Article, 2003 URL DOI

Pittock S.J, Meldrum D, Hardiman O, Thornton J, Brennan P, Moroney J.T, The Oxfordshire Community Stroke Project Classification: Correlation with imaging, associated complications, and prediction of outcome in acute ischemic stroke, Journal of Stroke and Cerebrovascular Diseases, 12, (1), 2003, p1 - 7 Journal Article, 2003 DOI URL

Galvin C.D, Hardiman O, Nolan C.M, IGF-1 receptor mediates differentiation of primary cultures of mouse skeletal myoblasts, Molecular and Cellular Endocrinology, 200, (1-2), 2003, p19 - 29 Journal Article, 2003 URL DOI

Hardiman O, Corr B, Frost E, Gibbons P, Mahon L, Traynor B.J, Access to health services in Ireland for people with Multiple Sclerosis and Motor Neurone Disease., Irish medical journal, 96, (7), 2003, p200 - 203 Journal Article, 2003 URL

Meldrum D, Cahalane E, Keogan F, Hardiman O, Maximum voluntary isometric contraction: Investigation of reliability and learning effect, Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 4, (1), 2003, p36 - 44 Journal Article, 2003 DOI URL

Pittock S.J, Meldrum D, Hardiman O, The "spray can" sign: Validation of a clinical observation in chronic inflammatory demyelinating polyneuropathy, Archives of Neurology, 59, (10), 2002, p1637 - 1640 Journal Article, 2002 DOI URL

Hardiman O, Traynor B.J, Corr B, Frost E, Models of care for motor neuron disease: Setting standards, Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 3, (4), 2002, p182 - 185 Journal Article, 2002 URL

Thornton F.J, Fotheringham T, Alexander M, Hardiman O, McGrath F.P, Lee M.J, Amyotrophic lateral sclerosis: Enteral nutrition provision - Endoscopic or radiologic gastrostomy?, Radiology, 224, (3), 2002, p713 - 717 Journal Article, 2002 URL

Lee R.Z, Hardiman O, O'Connell P.G, Ibuprofen-induced aseptiv meningoencephalitis [7], Rheumatology, 41, (3), 2002, p353 - 355 Journal Article, 2002 URL

Pongratz D, Zierz S, Fischer W, Jenkinson C, Fitzpatrick R, Peto V, Swash M, Aarli J.A, Burgunder J.-M, Evangelista T, Genthon R, Hardiman O, Illa I, Leigh P.N, Ludin H.-P, Mazzini L, Meininger V, Mora J.S, Ortega M, Papapetropoulos T, Pouget J, Robberecht W, Ronnevi L.-O, Sales-Luis M, Silani V, Wokke J.H.J, Werdelin L, Validity and reliability of the German language SF-36 health survey in patients with amyotrophic lateral sclerosis, Nervenheilkunde, 21, (8), 2002, p432 - 437 Journal Article, 2002 URL

Pittock S.J, Keir G, Alexander M, Brennan P, Hardiman O, Rapid clinical and CSF response to intravenous gamma globulin in acute disseminated encephalomyelitis [1], European Journal of Neurology, 8, (6), 2001, p725- Journal Article, 2001 DOI URL

Borasio G.D, Shaw P.J, Hardiman O, Ludolph A.C, Sales Luis M.L, Silani V, Standards of palliative care for patients with amyotrophic lateral sclerosis: Results of a European survey, Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 2, (3), 2001, p159 - 164 Journal Article, 2001 URL DOI

Pittock S.J, Hardiman O, Goode B, Moroney J.T, Evaluation of stroke management in an Irish university teaching hospital: The Royal College of Physicians stroke audit package, Irish Journal of Medical Science, 170, (3), 2001, p163 - 168 Journal Article, 2001 URL

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration , Orla Hardiman , [eds.] Journal,

Non-Peer-Reviewed Publications

Peschansky, V., Bedlack, R., Quinn, C., (...), Weber, C., Denson, K.H., ALSUntangled 38: L-serine, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18, (1-2), 2017, p148-151 Journal Article, 2017 DOI

Research Expertise

Description

Epidemiology, genetics and deep phenotyping of Amyotrophic Lateral Sclerosis: Health Services Research; Drug development and Clinical Trials

Projects

  • Title
    • Deep Phenotyping & Complex Genetics of ALS: A Multidisciplinary Population Based Approach
  • Summary
    • Characterization of epidemiology, genetics and phenotype of ALS/MND in Ireland
  • Funding Agency
    • Health Research Board
  • Date From
    • 2007
  • Date To
    • 2017
  • Title
    • Living and Dying with Amyotrophic Lateral Sclerosis: A Population based Analysis of Palliative Needs, Services and Outcomes in Non-malignant Terminal Illness
  • Summary
    • Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease. 70% of those with ALS die within 1000 days of their first symptom. Up to 50% of patients with ALS develop a degree of cognitive impairment, and 15 % develop a full-blown fronto-temporal dementia. There are currently no effective disease modifying therapies for ALS, and clinical intervention is focused on enhancing the quality of life for patients and relatives by relieving symptoms, providing emotional, psychological and spiritual support as needed, nd supporting the family in bereavement. As is the case for all neurodegenerative diseases, the generation of management protocols for ALS are more complex than for monophasic illnesses. This complexity relates to the multi-dimensionality and interdependence of required service provision. By extension, outcomes measurements must also be recognized as being multidimensional and interdependent. Notwithstanding their complexity, the design and availability of tools to determine and measure outcome in neurodegenerative conditions like ALS are of considerable importance. Such tools can be incorporated into the inception of integrated framework models of palliative care that can be planned, implemented, evaluated and reassessed. Design of such a framework requires detailed clinical information, drawn from a population based source that can then be validated in an incident based cohort monitored prospectively. As new disease modifying therapies become available, there is also an evolving need to identify key clinical milestones representing stages of ALS, to measure differences in resource utilization, and to define methods by which quality of life is measured across disease stages. These data are important for pharmaco-economic analyses of new therapeutics, and accurate analysis of these factors is also essential to the generation and monitoring of evidence based care pathway. This process is feasible in Ireland, as a national Register of ALS was established in 1995, and details of all incident cases (>1400) of ALS in the Republic of Ireland have been collected since then. Over 80% of all cases now attend the National ALS Centre in Beaumont Hospital. Retrospective data mining of the Register can provide important information about changes in incidence prevalence and natural history of the disease, the timing benefits and outcome of interventions including non-invasive ventilation and gastrostomy insertion; the beneficial effect of attending a multidisciplinary clinic, and the effects of cognitive impairment on prognosis and outcome. More detailed analysis from the more extensive clinic-based datasets can enrich the Register-based data to capture interactions with clinical professionals and the provision of equipment, and can incorporate phenotypic data including the presence and severity of cognitive impairment. These data can generate and validate prognostic indicators in ALS, from which a previously published staging algorithm can be replicated and validated. Prospective cohort analysis can then best used to generate and validate a framework of multidisciplinary intervention, including the appropriate intervention of general and specialist palliative care services The completed project will provide a best practice framework for future management of neurodegenerative disease, including an embedded rating scale that will trigger specialist palliative intervention in accordance with recent Irish health policy. The multidisciplinary research consortium comprises 6 key researchers from different fields, each with an established track record in their field of expertise, which include clinical care, population health , health services research and health economics. The research programme will be organised in three specific and interlinked work packages, spanning clinical, epidemiological and health services research including health economics.
  • Funding Agency
    • Health Research Board
  • Date From
    • 2013
  • Date To
    • 2016

Keywords

NEUROLOGICAL DISEASE; NEUROLOGY

Recognition

Awards and Honours

International Alliance of ALS/MND Forbes Norris Award 2011

Sheila Essey Award, American Academy of Neuroloy 2009

American Academy of Neurology Palatucci Advocacy Award

Elected Member, Royal Irish Academy 2015

Memberships

Member Royal Irish Academy 2015 – present

Fellow, Trinity College Dublin 2015 – present

Fellow of the Royal College of Physicians in Ireland 2001

Fellow of the American Academy of Neurology

Fellow of the American Neurological Association 2014