Dr. Russell Mc Laughlin
Associate Professor, Genetics

Kelly, C.M. and McLaughlin, R.L., Comparison of machine learning methods for genomic prediction of selected Arabidopsis thaliana traits, PLoS ONE, 19, (8), 2024 Journal Article, 2024 DOI

Tahedl M, Tan EL, Kleinerova J, Delaney S, Hengeveld JC, Doherty MA, Mclaughlin RL, Pradat PF, Raoul C, Ango F, Hardiman O, Chang KM, Lope J, Bede P., Progressive Cerebrocerebellar Uncoupling in Sporadic and Genetic Forms of Amyotrophic Lateral Sclerosis., Neurology, 103, (2), 2024 Journal Article, 2024

Marriott, H. and Spargo, T.P. and Al Khleifat, A. and Andersen, P.M. and BaÅ ak, N.A. and Cooper-Knock, J. and Corcia, P. and Couratier, P. and de Carvalho, M. and Drory, V. and Gotkine, M. and Landers, J.E. and McLaughlin, R. and Pardina, J.S.M. and Morrison, K.E. and Pinto, S. and Shaw, C.E. and Shaw, P.J. and Silani, V. and Ticozzi, N. and van Damme, P. and van den Berg, L.H. and Vourc'h, P. and Weber, M. and Veldink, J.H. and Al Khleifat, A. and Al-Chalabi, A. and Andersen, P.M. and BaÅ ak, N.A. and Cooper-Knock, J. and Corcia, P. and Couratier, P. and de Carvalho, M. and Drory, V. and Glass, J.D. and Hardiman, O. and Iacoangeli, A. and Landers, J.E. and McLaughlin, R. and Pardina, J.S.M. and Morrison, K.E. and Pinto, S. and Povedano, M. and Shaw, C.E. and Shaw, P.J. and van Damme, P. and van den Berg, L.H. and Ticozzi, N. and Weber, M. and Veldink, J.H. and Dobson, R.J. and Schwab, P. and Al-Chalabi, A. and Iacoangeli, A., Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS, Annals of Clinical and Translational Neurology, 11, (7), 2024, p1775-1786 Journal Article, 2024 DOI

Opie-Martin, S. and Iacoangeli, A. and Topp, S.D. and Abel, O. and Mayl, K. and Mehta, P.R. and Shatunov, A. and Fogh, I. and Bowles, H. and Limbachiya, N. and Spargo, T.P. and Al-Khleifat, A. and Williams, K.L. and Jockel-Balsarotti, J. and Bali, T. and Self, W. and Henden, L. and Nicholson, G.A. and Ticozzi, N. and McKenna-Yasek, D. and Tang, L. and Shaw, P.J. and Chio, A. and Ludolph, A. and Weishaupt, J.H. and Landers, J.E. and Glass, J.D. and Mora, J.S. and Robberecht, W. and Damme, P.V. and McLaughlin, R. and Hardiman, O. and van den Berg, L. and Veldink, J.H. and Corcia, P. and Stevic, Z. and Siddique, N. and Silani, V. and Blair, I.P. and Fan, D.-S. and Esselin, F. and de la Cruz, E. and Camu, W. and Basak, N.A. and Siddique, T. and Miller, T. and Brown, R.H. and Al-Chalabi, A. and Shaw, C.E., Correction to: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (Nature Communications, (2022), 13, 1, (6901), 10.1038/s41467-022-34620-y), Nature Communications, 15, (1), 2024 Journal Article, 2024 DOI

Costello, E. and Ryan, M. and Donohoe, B. and Kavanagh, C. and Pinto-Grau, M. and Doherty, M. and McLaughlin, R.L. and McHutchison, C. and Abrahams, S. and Heverin, M. and Hardiman, O. and Pender, N., Cognitive and neuropsychiatric endophenotypes in amyotrophic lateral sclerosis, Brain Communications, 5, (3), 2023 Journal Article, 2023 DOI

Tazelaar, G.H.P. and Hop, P.J. and Seelen, M. and van Vugt, J.J.F.A. and van Rheenen, W. and Kool, L. and van Eijk, K.R. and Gijzen, M. and Dooijes, D. and Moisse, M. and Calvo, A. and Moglia, C. and Brunetti, M. and Canosa, A. and Nordin, A. and Pardina, J.S.M. and Ravits, J. and Al-Chalabi, A. and Chio, A. and McLaughlin, R.L. and Hardiman, O. and Van Damme, P. and de Carvalho, M. and Neuwirth, C. and Weber, M. and Andersen, P.M. and van den Berg, L.H. and Veldink, J.H. and van Es, M.A., Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis, Neurobiology of Aging, 122, 2023, p76-87 Journal Article, 2023 DOI

Tahedl M, Tan EL, Chipika RH, Hengeveld JC, Vajda A, Doherty MA, McLaughlin RL, Siah WF, Hardiman O, Bede P. , Brainstem-cortex disconnection in amyotrophic lateral sclerosis: bulbar impairment, genotype associations, asymptomatic changes and biomarker opportunities., J Neurol., 2023 Journal Article, 2023

Tan EL, Tahedl M, Lope J, Hengeveld JC, Doherty MA, McLaughlin RL, Hardiman O, Chang KM, Finegan E, Bede P., Language deficits in primary lateral sclerosis: cortical atrophy, white matter degeneration and functional disconnection between cerebral regions., J Neurol. , 2023 Journal Article, 2023

Tahedl M, Tan EL, Siah WF, Hengeveld JC, Doherty MA, McLaughlin RL, Hardiman O, Finegan E, Bede P., Radiological correlates of pseudobulbar affect: Corticobulbar and cerebellar components in primary lateral sclerosis., J Neurol Sci. , 451, 2023, p120726- Journal Article, 2023

Tahedl M, Tan EL, Chipika RH, Lope J, Hengeveld JC, Doherty MA, McLaughlin RL, Hardiman O, Hutchinson S, McKenna MC, Bede P., The involvement of language-associated networks, tracts, and cortical regions in frontotemporal dementia and amyotrophic lateral sclerosis: Structural and functional alterations., Brain Behav. , 2023 Journal Article, 2023

Tahedl M, Tan EL, Shing SLH, Chipika RH, Siah WF, Hengeveld JC, Doherty MA, McLaughlin RL, Hardiman O, Finegan E, Bede P. , Not a benign motor neuron disease: longitudinal imaging captures relentless motor connectome disintegration in primary lateral sclerosis, Eur J Neurol. , 2023 Journal Article, 2023

Adey, B.N. and Cooper-Knock, J. and Al Khleifat, A. and Fogh, I. and van Damme, P. and Corcia, P. and Couratier, P. and Hardiman, O. and McLaughlin, R. and Gotkine, M. and Drory, V. and Silani, V. and Ticozzi, N. and Veldink, J.H. and van den Berg, L.H. and de Carvalho, M. and Pinto, S. and Mora Pardina, J.S. and Povedano Panades, M. and Andersen, P.M. and Weber, M. and BaŠak, N.A. and Shaw, C.E. and Shaw, P.J. and Morrison, K.E. and Landers, J.E. and Glass, J.D. and Vourc†h, P. and Dobson, R.J.B. and Breen, G. and Al-Chalabi, A. and Jones, A.R. and Iacoangeli, A., Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival, Frontiers in Cellular Neuroscience, 17, (1112405), 2023 Journal Article, 2023 DOI

Al Khleifat, A. and Iacoangeli, A. and Jones, A.R. and van Vugt, J.J.F.A. and Moisse, M. and Shatunov, A. and Zwamborn, R.A.J. and van der Spek, R.A.A. and Cooper-Knock, J. and Topp, S. and van Rheenen, W. and Kenna, B. and Van Eijk, K.R. and Kenna, K. and Byrne, R. and López, V. and Opie-Martin, S. and Vural, A. and Campos, Y. and Weber, M. and Smith, B. and Fogh, I. and Silani, V. and Morrison, K.E. and Dobson, R. and van Es, M.A. and McLaughlin, R.L. and Vourc†h, P. and Chio, A. and Corcia, P. and de Carvalho, M. and Gotkine, M. and Panades, M.P. and Mora, J.S. and Shaw, P.J. and Landers, J.E. and Glass, J.D. and Shaw, C.E. and Basak, N. and Hardiman, O. and Robberecht, W. and Van Damme, P. and van den Berg, L.H. and Veldink, J.H. and Al-Chalabi, A., Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data, Frontiers in Cellular Neuroscience, 16, (1050596), 2022 Journal Article, 2022 DOI

Hop, P.J. and Zwamborn, R.A.J. and Hannon, E. and Shireby, G.L. and Nabais, M.F. and Walker, E.M. and van Rheenen, W. and van Vugt, J.J.F.A. and Dekker, A.M. and Westeneng, H.-J. and Tazelaar, G.H.P. and van Eijk, K.R. and Moisse, M. and Baird, D. and Al Khleifat, A. and Iacoangeli, A. and Ticozzi, N. and Ratti, A. and Cooper-Knock, J. and Morrison, K.E. and Shaw, P.J. and Basak, A.N. and Chiò, A. and Calvo, A. and Moglia, C. and Canosa, A. and Brunetti, M. and Grassano, M. and Gotkine, M. and Lerner, Y. and Zabari, M. and Vourc'H, P. and Corcia, P. and Couratier, P. and Mora Pardina, J.S. and Salas, T. and Dion, P. and Ross, J.P. and Henderson, R.D. and Mathers, S. and McCombe, P.A. and Needham, M. and Nicholson, G. and Rowe, D.B. and Pamphlett, R. and Mather, K.A. and Sachdev, P.S. and Furlong, S. and Garton, F.C. and Henders, A.K. and Lin, T. and Ngo, S.T. and Steyn, F.J. and Wallace, L. and Williams, K.L. and Neto, M.M. and Cauchi, R.J. and Blair, I.P. and Kiernan, M.C. and Drory, V. and Povedano, M. and de Carvalho, M. and Pinto, S. and Weber, M. and Rouleau, G.A. and Silani, V. and Landers, J.E. and Shaw, C.E. and Andersen, P.M. and McRae, A.F. and van Es, M.A. and Pasterkamp, R.J. and Wray, N.R. and McLaughlin, R.L. and Hardiman, O. and Kenna, K.P. and Tsai, E. and Runz, H. and Al-Chalabi, A. and van den Berg, L.H. and Van Damme, P. and Mill, J. and Veldink, J.H. and Heijmans, B.T. and t Hoen, P.A.C. and van Meurs, J. and Jansen, R. and Franke, L. and Boomsma, D.I. and Pool, R. and van Dongen, J. and Hottenga, J.J. and van Greevenbroek, M.M.J. and Stehouwer, C.D.A. and van der Kallen, C.J.H. and Schalkwijk, C.G. and Wijmenga, C. and Zhernakova, S. and Tigchelaar, E.F. and Slagboom, P.E. and Beekman, M. and Deelen, J. and van Heemst, D. and van Duijn, C.M. and Hofman, B.A. and Isaacs, A. and Uitterlinden, A.G. and Jhamai, P.M. and Verbiest, M. and Suchiman, E.H.D. and Verkerk, M. and van der Breggen, R. and van Rooij, J. and Lakenberg, N. and Mei, H. and van Iterson, M. and van Galen, M. and Bot, J. and van 'T Hof, P. and Nooren, I. and Moed, M. and Vermaat, M. and Luijk, R. and Bonder, M.J. and van Dijk, F. and Arindrarto, W. and Kielbasa, S.M. and Swertz, M.A. and van Zwet, E.W. and Bensimon, G. and Smith, G.D., Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS, Science Translational Medicine, 14, (633), 2022 Journal Article, 2022 DOI

Al Khleifat, A. and Iacoangeli, A. and van Vugt, J.J.F.A. and Bowles, H. and Moisse, M. and Zwamborn, R.A.J. and van der Spek, R.A.A. and Shatunov, A. and Cooper-Knock, J. and Topp, S. and Byrne, R. and Gellera, C. and López, V. and Jones, A.R. and Opie-Martin, S. and Vural, A. and Campos, Y. and van Rheenen, W. and Kenna, B. and Van Eijk, K.R. and Kenna, K. and Weber, M. and Smith, B. and Fogh, I. and Silani, V. and Morrison, K.E. and Dobson, R. and van Es, M.A. and McLaughlin, R.L. and Vourc†h, P. and Chio, A. and Corcia, P. and de Carvalho, M. and Gotkine, M. and Panades, M.P. and Mora, J.S. and Shaw, P.J. and Landers, J.E. and Glass, J.D. and Shaw, C.E. and Basak, N. and Hardiman, O. and Robberecht, W. and Van Damme, P. and van den Berg, L.H. and Veldink, J.H. and Al-Chalabi, A., Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis, npj Genomic Medicine, 7, (1), 2022 Journal Article, 2022 DOI

Opie-Martin, S. and Iacoangeli, A. and Topp, S.D. and Abel, O. and Mayl, K. and Mehta, P.R. and Shatunov, A. and Fogh, I. and Bowles, H. and Limbachiya, N. and Spargo, T.P. and Al-Khleifat, A. and Williams, K.L. and Jockel-Balsarotti, J. and Bali, T. and Self, W. and Henden, L. and Nicholson, G.A. and Ticozzi, N. and McKenna-Yasek, D. and Tang, L. and Shaw, P.J. and Chio, A. and Ludolph, A. and Weishaupt, J.H. and Landers, J.E. and Glass, J.D. and Mora, J.S. and Robberecht, W. and Damme, P.V. and McLaughlin, R. and Hardiman, O. and van den Berg, L. and Veldink, J.H. and Corcia, P. and Stevic, Z. and Siddique, N. and Silani, V. and Blair, I.P. and Fan, D.-S. and Esselin, F. and de la Cruz, E. and Camu, W. and Basak, N.A. and Siddique, T. and Miller, T. and Brown, R.H. and Al-Chalabi, A. and Shaw, C.E., The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration, Nature Communications, 13, (1), 2022 Journal Article, 2022 DOI

van Rheenen, W. and van der Spek, R.A.A. and Bakker, M.K. and van Vugt, J.J.F.A. and Hop, P.J. and Zwamborn, R.A.J. and de Klein, N. and Westra, H.-J. and Bakker, O.B. and Deelen, P. and Shireby, G. and Hannon, E. and Moisse, M. and Baird, D. and Restuadi, R. and Dolzhenko, E. and Dekker, A.M. and Gawor, K. and Westeneng, H.-J. and Tazelaar, G.H.P. and van Eijk, K.R. and Kooyman, M. and Byrne, R.P. and Doherty, M. and Heverin, M. and Al Khleifat, A. and Iacoangeli, A. and Shatunov, A. and Ticozzi, N. and Cooper-Knock, J. and Smith, B.N. and Gromicho, M. and Chandran, S. and Pal, S. and Morrison, K.E. and Shaw, P.J. and Hardy, J. and Orrell, R.W. and Sendtner, M. and Meyer, T. and BaŠak, N. and van der Kooi, A.J. and Ratti, A. and Fogh, I. and Gellera, C. and Lauria, G. and Corti, S. and Cereda, C. and Sproviero, D. and D†Alfonso, S. and Sorarù, G. and Siciliano, G. and Filosto, M. and Padovani, A. and Chiò, A. and Calvo, A. and Moglia, C. and Brunetti, M. and Canosa, A. and Grassano, M. and Beghi, E. and Pupillo, E. and Logroscino, G. and Nefussy, B. and Osmanovic, A. and Nordin, A. and Lerner, Y. and Zabari, M. and Gotkine, M. and Baloh, R.H. and Bell, S. and Vourc†h, P. and Corcia, P. and Couratier, P. and Millecamps, S. and Meininger, V. and Salachas, F. and Mora Pardina, J.S. and Assialioui, A. and Rojas-García, R. and Dion, P.A. and Ross, J.P. and Ludolph, A.C. and Weishaupt, J.H. and Brenner, D. and Freischmidt, A. and Bensimon, G. and Brice, A. and Durr, A. and Payan, C.A.M. and Saker-Delye, S. and Wood, N.W. and Topp, S. and Rademakers, R. and Tittmann, L. and Lieb, W. and Franke, A. and Ripke, S. and Braun, A. and Kraft, J. and Whiteman, D.C. and Olsen, C.M. and Uitterlinden, A.G. and Hofman, A. and Rietschel, M. and Cichon, S. and Nöthen, M.M. and Amouyel, P. and Comi, G. and Riva, N. and Lunetta, C. and Gerardi, F. and Cotelli, M.S. and Rinaldi, F. and Chiveri, L. and Guaita, M.C. and Perrone, P. and Ceroni, M. and Diamanti, L. and Ferrarese, C. and Tremolizzo, L. and Delodovici, M.L. and Bono, G. and Canosa, A. and Manera, U. and Vasta, R. and Bombaci, A. and Casale, F. and Fuda, G. and Salamone, P. and Iazzolino, B. and Peotta, L. and Cugnasco, P. and De Marco, G. and Torrieri, M.C. and Palumbo, F. and Gallone, S. and Barberis, M. and Sbaiz, L. and Gentile, S. and Mauro, A. and Mazzini, L. and De Marchi, F. and Corrado, L. and D†Alfonso, S. and Bertolotto, A. and Gionco, M. and Leotta, D. and Odddenino, E. and Imperiale, D. and Cavallo, R. and Pignatta, P. and De Mattei, M. and Geda, C. and Papurello, D.M. and Gusmaroli, G. and Comi, C. and Labate, C. and Ruiz, L. and Ferrandi, D. and Rota, E. and Aguggia, M. and Di Vito, N. and Meineri, P. and Ghiglione, P. and Launaro, N. and Dotta, M. and Di Sapio, A. and Giardini, G. and Tiloca, C. and Peverelli, S. and Taroni, F. and Pensato, V. and Castellotti, B. and Comi, G.P. and Del Bo, R. and Ceroni, M. and Gagliardi, S. and Corrado, L. and Mazzini, L. and Raggi, F. and Simoncini, C. and Lo Gerfo, A. and Inghilleri, M. and Ferlini, A. and Simone, I.L. and Passarella, B. and Guerra, V. and Zoccolella, S. and Nozzoli, C. and Mundi, C. and Leone, M. and Zarrelli, M. and Tamma, F. and Valluzzi, F. and Calabrese, G. and Boero, G. and Rini, A. and Traynor, B.J. and Singleton, A.B. and Mitne Neto, M. and Cauchi, R.J. and Ophoff, R.A. and Wiedau-Pazos, M. and Lomen-Hoerth, C. and van Deerlin, V.M. and Grosskreutz, J. and Roediger, A. and Gaur, N. and Jörk, A. and Barthel, T. and Theele, E. and Ilse, B. and S, Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1), Nature Genetics, 2022 Journal Article, 2022 DOI

Bede P, Chipika RH, Christidi F, Hengeveld JC, Karavasilis E, Argyropoulos GD, Lope J, Li Hi Shing S, Velonakis G, Dupuis L, Doherty MA, Vajda A, McLaughlin RL, Hardiman O. , Genotype-associated cerebellar profiles in ALS: focal cerebellar pathology and cerebro-cerebellar connectivity alterations. , J Neurol Neurosurg Psychiatry., 2021 Journal Article, 2021

Dukic S, McMackin R, Costello E, Metzger M, Buxo T, Fasano A, Chipika R, Pinto-Grau M, Schuster C, Hammond M, Heverin M, Coffey A, Broderick M, Iyer PM, Mohr K, Gavin B, McLaughlin R, Pender N, Bede P, Muthuraman M, van den Berg L, Hardiman O, Nasseroleslami B. , Resting-state EEG reveals four subphenotypes of amyotrophic lateral sclerosis., Brain, 2021 Journal Article, 2021

van Rheenen, W. and van der Spek, R.A.A. and Bakker, M.K. and van Vugt, J.J.F.A. and Hop, P.J. and Zwamborn, R.A.J. and de Klein, N. and Westra, H.-J. and Bakker, O.B. and Deelen, P. and Shireby, G. and Hannon, E. and Moisse, M. and Baird, D. and Restuadi, R. and Dolzhenko, E. and Dekker, A.M. and Gawor, K. and Westeneng, H.-J. and Tazelaar, G.H.P. and van Eijk, K.R. and Kooyman, M. and Byrne, R.P. and Doherty, M. and Heverin, M. and Al Khleifat, A. and Iacoangeli, A. and Shatunov, A. and Ticozzi, N. and Cooper-Knock, J. and Smith, B.N. and Gromicho, M. and Chandran, S. and Pal, S. and Morrison, K.E. and Shaw, P.J. and Hardy, J. and Orrell, R.W. and Sendtner, M. and Meyer, T. and BaÅ ak, N. and van der Kooi, A.J. and Ratti, A. and Fogh, I. and Gellera, C. and Lauria, G. and Corti, S. and Cereda, C. and Sproviero, D. and D'Alfonso, S. and Sorarù, G. and Siciliano, G. and Filosto, M. and Padovani, A. and Chiò, A. and Calvo, A. and Moglia, C. and Brunetti, M. and Canosa, A. and Grassano, M. and Beghi, E. and Pupillo, E. and Logroscino, G. and Nefussy, B. and Osmanovic, A. and Nordin, A. and Lerner, Y. and Zabari, M. and Gotkine, M. and Baloh, R.H. and Bell, S. and Vourc'h, P. and Corcia, P. and Couratier, P. and Millecamps, S. and Meininger, V. and Salachas, F. and Mora Pardina, J.S. and Assialioui, A. and Rojas-García, R. and Dion, P.A. and Ross, J.P. and Ludolph, A.C. and Weishaupt, J.H. and Brenner, D. and Freischmidt, A. and Bensimon, G. and Brice, A. and Durr, A. and Payan, C.A.M. and Saker-Delye, S. and Wood, N.W. and Topp, S. and Rademakers, R. and Tittmann, L. and Lieb, W. and Franke, A. and Ripke, S. and Braun, A. and Kraft, J. and Whiteman, D.C. and Olsen, C.M. and Uitterlinden, A.G. and Hofman, A. and Rietschel, M. and Cichon, S. and Nöthen, M.M. and Amouyel, P. and Traynor, B.J. and Singleton, A.B. and Mitne Neto, M. and Cauchi, R.J. and Ophoff, R.A. and Wiedau-Pazos, M. and Lomen-Hoerth, C. and van Deerlin, V.M. and Grosskreutz, J. and Roediger, A. and Gaur, N. and Jörk, A. and Barthel, T. and Theele, E. and Ilse, B. and Stubendorff, B. and Witte, O.W. and Steinbach, R. and HÃŒbner, C.A. and Graff, C. and Brylev, L. and Fominykh, V. and Demeshonok, V. and Ataulina, A. and Rogelj, B. and Koritnik, B. and Zidar, J. and Ravnik-GlavaÄ , M. and GlavaÄ , D. and SteviÄ , Z. and Drory, V. and Povedano, M. and Blair, I.P. and Kiernan, M.C. and Benyamin, B. and Henderson, R.D. and Furlong, S. and Mathers, S. and McCombe, P.A. and Needham, M. and Ngo, S.T. and Nicholson, G.A. and Pamphlett, R. and Rowe, D.B. and Steyn, F.J. and Williams, K.L. and Mather, K.A. and Sachdev, P.S. and Henders, A.K. and Wallace, L. and de Carvalho, M. and Pinto, S. and Petri, S. and Weber, M. and Rouleau, G.A. and Silani, V. and Curtis, C.J. and Breen, G. and Glass, J.D. and Brown, R.H. and Landers, J.E. and Shaw, C.E. and Andersen, P.M. and Groen, E.J.N. and van Es, M.A. and Pasterkamp, R.J. and Fan, D. and Garton, F.C. and McRae, A.F. and Davey Smith, G. and Gaunt, T.R. and Eberle, M.A. and Mill, J. and McLaughlin, R.L. and Hardiman, O. and Kenna, K.P. and Wray, N.R. and Tsai, E. and Runz, H. and Franke, L. and Al-Chalabi, A. and Van Damme, P. and van den Berg, L.H. and Veldink, J.H., Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology, Nature genetics, 53, (12), 2021, p1636-1648 Journal Article, 2021 DOI

McKenna MC, Chipika RH, Li Hi Shing S, Christidi F, Lope J, Doherty MA, Hengeveld JC, Vajda A, McLaughlin RL, Hardiman O, Hutchinson S, Bede P., Infratentorial pathology in frontotemporal dementia: cerebellar grey and white matter alterations in FTD phenotypes., J Neurol., 2021 Journal Article, 2021 DOI

Johnson, J.O. and Chia, R. and Miller, D.E. and Li, R. and Kumaran, R. and Abramzon, Y. and Alahmady, N. and Renton, A.E. and Topp, S.D. and Gibbs, J.R. and Cookson, M.R. and Sabir, M.S. and Dalgard, C.L. and Troakes, C. and Jones, A.R. and Shatunov, A. and Iacoangeli, A. and Al Khleifat, A. and Ticozzi, N. and Silani, V. and Gellera, C. and Blair, I.P. and Dobson-Stone, C. and Kwok, J.B. and Bonkowski, E.S. and Palvadeau, R. and Tienari, P.J. and Morrison, K.E. and Shaw, P.J. and Al-Chalabi, A. and Brown, R.H. and Calvo, A. and Mora, G. and Al-Saif, H. and Gotkine, M. and Leigh, F. and Chang, I.J. and Perlman, S.J. and Glass, I. and Scott, A.I. and Shaw, C.E. and Basak, A.N. and Landers, J.E. and Chiò, A. and Crawford, T.O. and Smith, B.N. and Traynor, B.J. and Smith, B.N. and Ticozzi, N. and Fallini, C. and Gkazi, A.S. and Topp, S.D. and Scotter, E.L. and Kenna, K.P. and Keagle, P. and Tiloca, C. and Vance, C. and Troakes, C. and Colombrita, C. and King, A. and Pensato, V. and Castellotti, B. and Baas, F. and Ten Asbroek, A.L.M.A. and McKenna-Yasek, D. and McLaughlin, R.L. and Polak, M. and Asress, S. and Esteban-Pérez, J. and Stevic, Z. and D'Alfonso, S. and Mazzini, L. and Comi, G.P. and Del Bo, R. and Ceroni, M. and Gagliardi, S. and Querin, G. and Bertolin, C. and Van Rheenen, W. and Rademakers, R. and Van Blitterswijk, M. and Lauria, G. and Duga, S. and Corti, S. and Cereda, C. and Corrado, L. and Sorarù, G. and Williams, K.L. and Nicholson, G.A. and Blair, I.P. and Leblond-Manry, C. and Rouleau, G.A. and Hardiman, O. and Morrison, K.E. and Veldink, J.H. and Van Den Berg, L.H. and Al-Chalabi, A. and Pall, H. and Shaw, P.J. and Turner, M.R. and Talbot, K. and Taroni, F. and García-Redondo, A. and Wu, Z. and Glass, J.D. and Gellera, C. and Ratti, A. and Brown, R.H. and Silani, V. and Shaw, C.E. and Landers, J.E. and Dalgard, C.L. and Adeleye, A. and Soltis, A.R. and Alba, C. and Viollet, C. and Bacikova, D. and Hupalo, D.N. and Sukumar, G. and Pollard, H.B. and Wilkerson, M.D. and Martinez, E.M. and Abramzon, Y. and Ahmed, S. and Arepalli, S. and Baloh, R.H. and Bowser, R. and Brady, C.B. and Brice, A. and Broach, J. and Campbell, R.H. and Camu, W. and Cooper-Knock, J. and Ding, J. and Drepper, C. and Drory, V.E. and Dunckley, T.L. and Eicher, J.D. and England, B.K. and Faghri, F. and Feldman, E. and Floeter, M.K. and Fratta, P. and Geiger, J.T. and Gerhard, G. and Gibbs, J.R. and Gibson, S.B. and Glass, J.D. and Hardy, J. and Harms, M.B. and Heiman-Patterson, T.D. and Hernandez, D.G. and Jansson, L. and Kirby, J. and Kowall, N.W. and Laaksovirta, H. and Landeck, N. and Landi, F. and Le Ber, I. and Lumbroso, S. and Macgowan, D.J.L. and Maragakis, N.J. and Mouzat, K. and Murphy, N.A. and Myllykangas, L. and Nalls, M.A. and Orrell, R.W. and Ostrow, L.W. and Pamphlett, R. and Pickering-Brown, S. and Pioro, E.P. and Pletnikova, O. and Pliner, H.A. and Pulst, S.M. and Ravits, J.M. and Renton, A.E. and Rivera, A. and Robberecht, W. and Rogaeva, E. and Rollinson, S. and Rothstein, J.D. and Scholz, S.W. and Sendtner, M. and Shaw, P.J. and Sidle, K.C. and Simmons, Z. and Singleton, A.B. and Smith, N. and Stone, D.J. and Tienari, P.J. and Troncoso, J.C. and Valori, M. and Van Damme, P. and Van Deerlin, V.M. and Van Den Bosch, L. and Zinman, L. and Landers, J.E. and Chiò, A. and Traynor, B.J. and Angelocola, S.M. and Ausiello, F.P. and Barberis, M. and Bartolomei, I. and Battistini, S. and Bersano, E. and Bisogni, G. and Borghero, G. and Brunetti, M. and Cabona, C. and C, Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis, JAMA Neurology, 78, (10), 2021, p1236-1248 Journal Article, 2021 DOI

Dewan, R. and Chia, R. and Ding, J. and Hickman, R.A. and Stein, T.D. and Abramzon, Y. and Ahmed, S. and Sabir, M.S. and Portley, M.K. and Tucci, A. and Ibáñez, K. and Shankaracharya, F.N.U. and Keagle, P. and Rossi, G. and Caroppo, P. and Tagliavini, F. and Waldo, M.L. and Johansson, P.M. and Nilsson, C.F. and Adeleye, A. and Alba, C. and Bacikova, D. and Hupalo, D.N. and Martinez, E.M. and Pollard, H.B. and Sukumar, G. and Soltis, A.R. and Tuck, M. and Zhang, X. and Wilkerson, M.D. and Smith, B.N. and Ticozzi, N. and Fallini, C. and Gkazi, A.S. and Topp, S.D. and Kost, J. and Scotter, E.L. and Kenna, K.P. and Miller, J.W. and Tiloca, C. and Vance, C. and Danielson, E.W. and Troakes, C. and Colombrita, C. and Al-Sarraj, S. and Lewis, E.A. and King, A. and Calini, D. and Pensato, V. and Castellotti, B. and de Belleroche, J. and Baas, F. and ten Asbroek, A.L.M.A. and Sapp, P.C. and McKenna-Yasek, D. and McLaughlin, R.L. and Polak, M. and Asress, S. and Esteban-Pérez, J. and Muñoz-Blanco, J.L. and Stevic, Z. and D'Alfonso, S. and Mazzini, L. and Comi, G.P. and Del Bo, R. and Ceroni, M. and Gagliardi, S. and Querin, G. and Bertolin, C. and van Rheenen, W. and Diekstra, F.P. and Rademakers, R. and van Blitterswijk, M. and Boylan, K.B. and Lauria, G. and Duga, S. and Corti, S. and Cereda, C. and Corrado, L. and Sorarù, G. and Williams, K.L. and Nicholson, G.A. and Blair, I.P. and Leblond-Manry, C. and Rouleau, G.A. and Hardiman, O. and Morrison, K.E. and Veldink, J.H. and van den Berg, L.H. and Al-Chalabi, A. and Pall, H. and Shaw, P.J. and Turner, M.R. and Talbot, K. and Taroni, F. and García-Redondo, A. and Wu, Z. and Gellera, C. and Ratti, A. and Brown, R.H. and Shaw, C.E. and Ambrose, J.C. and Arumugam, P. and Baple, E.L. and Bleda, M. and Boardman-Pretty, F. and Boissiere, J.M. and Boustred, C.R. and Brittain, H. and Caulfield, M.J. and Chan, G.C. and Craig, C.E.H. and Daugherty, L.C. and de Burca, A. and Devereau, A. and Elgar, G. and Foulger, R.E. and Fowler, T. and Furió-Tarí, P. and Hackett, J.M. and Halai, D. and Hamblin, A. and Henderson, S. and Holman, J.E. and Hubbard, T.J.P. and Jackson, R. and Jones, L.J. and Kasperaviciute, D. and Kayikci, M. and Lahnstein, L. and Lawson, K. and Leigh, S.E.A. and Leong, I.U.S. and Lopez, J.F. and Maleady-Crowe, F. and Mason, J. and McDonagh, E.M. and Moutsianas, L. and Mueller, M. and Murugaesu, N. and Need, A.C. and Odhams, C.A. and Patch, C. and Perez-Gil, D. and Polychronopoulos, D. and Pullinger, J. and Rahim, T. and Rendon, A. and Riesgo-Ferreiro, P. and Rogers, T. and Savage, K. and Sawant, K. and Scott, R.H. and Siddiq, A. and Sieghart, A. and Smedley, D. and Smith, K.R. and Sosinsky, A. and Spooner, W. and Stevens, H.E. and Stuckey, A. and Sultana, R. and Thomas, E.R.A. and Thompson, S.R. and Tregidgo, C. and Walsh, E. and Watters, S.A. and Welland, M.J. and Williams, E. and Witkowska, K. and Wood, S.M. and Zarowiecki, M. and Arepalli, S. and Auluck, P. and Baloh, R.H. and Bowser, R. and Brice, A. and Broach, J. and Camu, W. and Chiò, A. and Cooper-Knock, J. and Corcia, P. and Drepper, C. and Drory, V.E. and Dunckley, T.L. and Faghri, F. and Farren, J. and Feldman, E. and Floeter, M.K. and Fratta, P. and Gerhard, G. and Gibson, S.B. and Goutman, S.A. and Heiman-Patterson, T.D. and Hernandez, D.G. and Hoover, B. and Jansson, L. and Kamel, F. and Kirby, J. and Kowall, N.W. and Laaksovirta, H. and Landi, F. and Le Ber, I. and Lumbroso, S. and MacGowan, D.J. and Maragakis, N.J. and Mora, G. and Mouzat, K. and , Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis, Neuron, 109, (3), 2021, p448-460.e4 Journal Article, 2021 DOI

Finegan E, Shing SLH, Chipika RH, Chang KM, McKenna MC, Doherty MA, Hengeveld JC, Vajda A, Pender N, Donaghy C, Hutchinson S, McLaughlin RL, Hardiman O, Bede P. , Extra-motor cerebral changes and manifestations in primary lateral sclerosis. , Brain Imaging Behav., 2021 Journal Article, 2021 DOI

McKenna MC, Tahedl M, Lope J, Chipika RH, Li Hi Shing S, Doherty MA, Hengeveld JC, Vajda A, McLaughlin RL, Hardiman O, Hutchinson S, Bede P. , Mapping cortical disease-burden at individual-level in frontotemporal dementia: implications for clinical care and pharmacological trials., Brain Imaging Behav. , 2021 Journal Article, 2021

McLaughlin, R.L., REscan: Inferring repeat expansions and structural variation in paired-end short read sequencing data, Bioinformatics, 37, (6), 2021, p871-872 Journal Article, 2021 DOI

Olszewska, D.A. and McCarthy, A. and Soto-Beasley, A.I. and Walton, R.L. and Magennis, B. and McLaughlin, R.L. and Hardiman, O. and Ross, O.A. and Lynch, T., Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland, Frontiers in Neurology, 11, (527), 2020 Journal Article, 2020 DOI

Cooper-Knock, J. and Zhang, S. and Kenna, K.P. and Moll, T. and Franklin, J.P. and Allen, S. and Nezhad, H.G. and Iacoangeli, A. and Yacovzada, N.Y. and Eitan, C. and Hornstein, E. and Ehilak, E. and Celadova, P. and Bose, D. and Farhan, S. and Fishilevich, S. and Lancet, D. and Morrison, K.E. and Shaw, C.E. and Al-Chalabi, A. and Blair, I. and Wray, N. and Kiernan, M. and Neto, M.M. and Chio, A. and Cauchi, R. and Robberecht, W. and van Damme, P. and Corcia, P. and Couratier, P. and Hardiman, O. and McLaughlin, R. and Gotkine, M. and Drory, V. and Ticozzi, N. and Silani, V. and Veldink, J. and van den Berg, L. and de Carvalho, M. and Pardina, J.M. and Povedano, M. and Andersen, P. and Wber, M. and BaÅ ak, N. and Shaw, C. and Shaw, P. and Morrison, K. and Landers, J. and Glass, J. and Veldink, J.H. and Kirby, J. and Snyder, M.P. and Shaw, P.J., Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene, Cell Reports, 33, (9), 2020 Journal Article, 2020 DOI

Tazelaar, G.H.P. and Boeynaems, S. and De Decker, M. and Van Vugt, J.J.F.A. and Kool, L. and Goedee, H.S. and Mclaughlin, R.L. and Sproviero, W. and Iacoangeli, A. and Moisse, M. and Jacquemyn, M. and Daelemans, D. and Dekker, A.M. and Van Der Spek, R.A. and Westeneng, H.-J. and Kenna, K.P. and Assialioui, A. and Da Silva, N. and Povedano, M. and Pardina, J.S.M. and Hardiman, O. and Salachas, F. and Millecamps, S. and Vourc'h, P. and Corcia, P. and Couratier, P. and Morrison, K.E. and Shaw, P.J. and Shaw, C.E. and Pasterkamp, R.J. and Landers, J.E. and Van Den Bosch, L. and Robberecht, W. and Al-Chalabi, A. and Van Den Berg, L.H. and Van Damme, P. and Veldink, J.H. and Van Es, M.A., ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization, Brain Communications, 2, (2), 2020 Journal Article, 2020 DOI

Bede P, Chipika RH, Finegan E, Li Hi Shing S, Chang KM, Doherty MA, Hengeveld JC, Vajda A, Hutchinson S, Donaghy C, McLaughlin RL, Hardiman O., Progressive brainstem pathology in motor neuron diseases: Imaging data from amyotrophic lateral sclerosis and primary lateral sclerosis. , Data in Brief, 2020 Journal Article, 2020 DOI

Hop, P.J. and Zwamborn, R.A.J. and Hannon, E.J. and Dekker, A.M. and van Eijk, K.R. and Walker, E.M. and Iacoangeli, A. and Jones, A.R. and Shatunov, A. and Khleifat, A.A. and Opie-Martin, S. and Shaw, C.E. and Morrison, K.E. and Shaw, P.J. and McLaughlin, R.L. and Hardiman, O. and Al-Chalabi, A. and van Den Berg, L.H. and Mill, J. and Veldink, J.H., Cross-reactive probes on Illumina DNA methylation arrays: A large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies, NAR Genomics and Bioinformatics, 2, (4), 2020 Journal Article, 2020 DOI

Chipika RH, Siah WF, Shing SLH, Finegan E, McKenna MC, Christidi F, Chang KM, Karavasilis E, Vajda A, Hengeveld JC, Doherty MA, Donaghy C, Hutchinson S, McLaughlin RL, Hardiman O, Bede P. , MRI data confirm the selective involvement of thalamic and amygdalar nuclei in amyotrophic lateral sclerosis and primary lateral sclerosis., Data in Brief, 2020 Journal Article, 2020 DOI

Chipika RH, Christidi F, Finegan E, Li Hi Shing S, McKenna MC, Chang KM, Karavasilis E, Doherty MA, Hengeveld JC, Vajda A, Pender N, Hutchinson S, Donaghy C, McLaughlin RL, Hardiman O, Bede P. , Amygdala pathology in amyotrophic lateral sclerosis and primary lateral sclerosis. , J Neurol Sci. , 2020 Journal Article, 2020 DOI

Finegan E, Siah WF, Shing SLH, Chipika RH, Chang KM, McKenna MC, Doherty MA, Hengeveld JC, Vajda A, Donaghy C, Hutchinson S, McLaughlin RL, Hardiman O, Bede P. , Imaging and clinical data indicate considerable disease burden in 'probable' PLS: Patients with UMN symptoms for 2-4 years., Data in Brief, 32, 2020 Journal Article, 2020 DOI

Chipika, R.H. and Finegan, E. and Li Hi Shing, S. and McKenna, M.C. and Christidi, F. and Chang, K.M. and Doherty, M.A. and Hengeveld, J.C. and Vajda, A. and Pender, N. and Hutchinson, S. and Donaghy, C. and McLaughlin, R.L. and Hardiman, O. and Bede, P., †Switchboard†malfunction in motor neuron diseases: Selective pathology of thalamic nuclei in amyotrophic lateral sclerosis and primary lateral sclerosis, NeuroImage: Clinical, 27, (102300), 2020 Journal Article, 2020 DOI

Finegan E, Li Hi Shing S, Siah WF, Chipika RH, Chang KM, McKenna MC, Doherty MA, Hengeveld JC, Vajda A, Donaghy C, Hutchinson S, McLaughlin RL, Hardiman O, Bede P. , Evolving diagnostic criteria in primary lateral sclerosis: The clinical and radiological basis of "probable PLS". , J Neurol Sci., 417, 2020 Journal Article, 2020 DOI

Finegan E, Hi Shing SL, Chipika RH, McKenna MC, Doherty MA, Hengeveld JC, Vajda A, Donaghy C, McLaughlin RL, Hutchinson S, Hardiman O, Bede P, Thalamic, hippocampal and basal ganglia pathology in primary lateral sclerosis and amyotrophic lateral sclerosis: Evidence from quantitative imaging data, Data in Brief, 2020 Journal Article, 2020 DOI

Dekker, A.M. and Diekstra, F.P. and Pulit, S.L. and Tazelaar, G.H.P. and van der Spek, R.A. and van Rheenen, W. and van Eijk, K.R. and Calvo, A. and Brunetti, M. and Damme, P.V. and Robberecht, W. and Hardiman, O. and McLaughlin, R. and Chiò, A. and Sendtner, M. and Ludolph, A.C. and Weishaupt, J.H. and Pardina, J.S.M. and van den Berg, L.H. and Veldink, J.H., Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis, Scientific Reports, 9, (1), 2019 Journal Article, 2019 DOI

Ryan, M. and Heverin, M. and McLaughlin, R.L. and Hardiman, O., Lifetime Risk and Heritability of Amyotrophic Lateral Sclerosis, JAMA Neurology, 2019 Journal Article, 2019 DOI

Ryan, M. and Zaldívar Vaillant, T. and McLaughlin, R.L. and Doherty, M.A. and Rooney, J. and Heverin, M. and Gutierrez, J. and Lara-Fernández, G.E. and Pita Rodríguez, M. and Hackembruch, J. and Perna, A. and Vazquez, M.C. and Musio, M. and Ketzoian, C.N. and Logroscino, G. and Hardiman, O., Comparison of the clinical and genetic features of amyotrophic lateral sclerosis across Cuban, Uruguayan and Irish clinic-based populations, Journal of Neurology, Neurosurgery and Psychiatry, 90, (6), 2019, p659-665 Journal Article, 2019 DOI

Nasseroleslami B, Dukic S, Broderick M, Mohr K, Schuster C, Gavin B, McLaughlin R, Heverin M, Vajda A, Iyer PM, Pender N, Bede P, Lalor EC, Hardiman O., Characteristic Increases in EEG Connectivity Correlate With Changes of Structural MRI in Amyotrophic Lateral Sclerosis., Cereb Cortex, 29, (1), 2019, p27 - 41 Journal Article, 2019

Tazelaar, G.H.P. and Dekker, A.M. and van Vugt, J.J.F.A. and van der Spek, R.A. and Westeneng, H.-J. and Kool, L.J.B.G. and Kenna, K.P. and van Rheenen, W. and Pulit, S.L. and McLaughlin, R.L. and Sproviero, W. and Iacoangeli, A. and HÌbers, A. and Brenner, D. and Morrison, K.E. and Shaw, P.J. and Shaw, C.E. and Panadés, M.P. and Mora Pardina, J.S. and Glass, J.D. and Hardiman, O. and Al-Chalabi, A. and van Damme, P. and Robberecht, W. and Landers, J.E. and Ludolph, A.C. and Weishaupt, J.H. and van den Berg, L.H. and Veldink, J.H. and van Es, M.A., Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort, Neurobiology of Aging, 74, 2019, p234.e9-234.e15 Journal Article, 2019 DOI

Finegan E, Li Hi Shing S, Chipika, RH, Doherty MA, Hengeveld JC, Vajda A, Donaghy C, Pender N, McLaughlin RL, Hardiman O, Bede P., Widespread subcortical grey matter degeneration in primary lateral sclerosis: a multimodal imaging study with genetic profiling., Neuroimage Clin., 2019 Journal Article, 2019

Bede P, Chipika RH, Finegan E, Li Hi Shing S, Doherty MA, Hengeveld JC, Vajda A, Hutchinson S, Donaghy C, McLaughlin RL, Hardiman O, Brainstem pathology in amyotrophic lateral sclerosis and primary lateral sclerosis: A longitudinal neuroimaging study, Neuroimage Clin, 2019 Journal Article, 2019 DOI

Finegan E, Chipika RH, Li Hi Shing S, Doherty MA, Hengeveld JC, Vajda A, Donaghy C, McLaughlin RL, Pender N, Hardiman O, Bede P, The clinical and radiological profile of primary lateral sclerosis: a population-based study., Journal of Neurology, 2019 Journal Article, 2019

Ryan, M. and Heverin, M. and Doherty, M.A. and Davis, N. and Corr, E.M. and Vajda, A. and Pender, N. and McLaughlin, R. and Hardiman, O., Determining the incidence of familiality in ALS, Neurology: Genetics, 4, (3), 2018 Journal Article, 2018 DOI TARA - Full Text

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 TARA - Full Text DOI

Tazelaar, G.H.P. and van Rheenen, W. and Pulit, S.L. and van der Spek, R.A.A. and Dekker, A.M. and Moisse, M. and McLaughlin, R.L. and Sproviero, W. and Kenna, K.P. and Kooyman, M. and van Doormaal, P.T.C. and van Eijk, K.E. and Middelkoop, B.M. and Schellevis, R.D. and Brands, W.J. and Al-Chalabi, A. and Morrison, K.E. and Shaw, P.J. and Shaw, C.E. and Newhouse, S.E. and van Es, M.A. and Basak, A.N. and Akçimen, F. and Kocoglu, C. and Tunca, C. and Povedano, M. and Mora, J.S. and Glass, J.D. and Van Damme, P. and Robberecht, W. and HardimanMD, O. and Landers, J.E. and van den Berg, L.H. and Veldink, J.H., CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?, Annals of Neurology, 84, (1), 2018, p110-116 Journal Article, 2018 DOI

Nicolas, A. and Kenna, K.P. and Renton, A.E. and Ticozzi, N. and Faghri, F. and Chia, R. and Dominov, J.A. and Kenna, B.J. and Nalls, M.A. and Keagle, P. and Rivera, A.M. and van Rheenen, W. and Murphy, N.A. and van Vugt, J.J.F.A. and Geiger, J.T. and Van der Spek, R.A. and Pliner, H.A. and Shankaracharya and Smith, B.N. and Marangi, G. and Topp, S.D. and Abramzon, Y. and Gkazi, A.S. and Eicher, J.D. and Kenna, A. and Logullo, F.O. and Simone, I.L. and Logroscino, G. and Salvi, F. and Bartolomei, I. and Borghero, G. and Murru, M.R. and Costantino, E. and Pani, C. and Puddu, R. and Caredda, C. and Piras, V. and Tranquilli, S. and Cuccu, S. and Corongiu, D. and Melis, M. and Milia, A. and Marrosu, F. and Marrosu, M.G. and Floris, G. and Cannas, A. and Capasso, M. and Caponnetto, C. and Mancardi, G. and Origone, P. and Mandich, P. and Conforti, F.L. and Cavallaro, S. and Mora, G. and Marinou, K. and Sideri, R. and Penco, S. and Mosca, L. and Lunetta, C. and Pinter, G.L. and Corbo, M. and Riva, N. and Carrera, P. and Volanti, P. and Mandrioli, J. and Fini, N. and Fasano, A. and Tremolizzo, L. and Arosio, A. and Ferrarese, C. and Trojsi, F. and Tedeschi, G. and Monsurrò, M.R. and Piccirillo, G. and Femiano, C. and Ticca, A. and Ortu, E. and La Bella, V. and Spataro, R. and Colletti, T. and Sabatelli, M. and Zollino, M. and Conte, A. and Luigetti, M. and Lattante, S. and Santarelli, M. and Petrucci, A. and Pugliatti, M. and Pirisi, A. and Parish, L.D. and Occhineri, P. and Giannini, F. and Battistini, S. and Ricci, C. and Benigni, M. and Cau, T.B. and Loi, D. and Calvo, A. and Moglia, C. and Brunetti, M. and Barberis, M. and Restagno, G. and Casale, F. and Marrali, G. and Fuda, G. and Ossola, I. and Cammarosano, S. and Canosa, A. and Ilardi, A. and Manera, U. and Grassano, M. and Tanel, R. and Pisano, F. and Mazzini, L. and Messina, S. and D'Alfonso, S. and Corrado, L. and Ferrucci, L. and Harms, M.B. and Goldstein, D.B. and Shneider, N.A. and Goutman, S.A. and Simmons, Z. and Miller, T.M. and Chandran, S. and Pal, S. and Manousakis, G. and Appel, S.H. and Simpson, E. and Wang, L. and Baloh, R.H. and Gibson, S.B. and Bedlack, R. and Lacomis, D. and Sareen, D. and Sherman, A. and Bruijn, L. and Penny, M. and Moreno, C.D.A.M. and Kamalakaran, S. and Allen, A.S. and Boone, B.E. and Brown, R.H. and Carulli, J.P. and Chesi, A. and Chung, W.K. and Cirulli, E.T. and Cooper, G.M. and Couthouis, J. and Day-Williams, A.G. and Dion, P.A. and Gitler, A.D. and Glass, J.D. and Han, Y. and Harris, T. and Hayes, S.D. and Jones, A.L. and Keebler, J. and Krueger, B.J. and Lasseigne, B.N. and Levy, S.E. and Lu, Y.-F. and Maniatis, T. and McKenna-Yasek, D. and Myers, R.M. and Petrovski, S. and Pulst, S.M. and Raphael, A.R. and Ravits, J.M. and Ren, Z. and Rouleau, G.A. and Sapp, P.C. and Sims, K.B. and Staropoli, J.F. and Waite, L.L. and Wang, Q. and Wimbish, J.R. and Xin, W.W. and Phatnani, H. and Kwan, J. and Broach, J. and Arcila-Londono, X. and Lee, E.B. and Van Deerlin, V.M. and Fraenkel, E. and Ostrow, L.W. and Baas, F. and Zaitlen, N. and Berry, J.D. and Malaspina, A. and Fratta, P. and Cox, G.A. and Thompson, L.M. and Finkbeiner, S. and Dardiotis, E. and Hornstein, E. and MacGowan, D.J.L. and Heiman-Patterson, T. and Hammell, M.G. and Patsopoulos, N.A. and Dubnau, J. and Nath, A. and Musunuri, R.L. and Evani, U.S. and Abhyankar, A. and Zody, M.C. and Kaye, J. and Wyman, S.K. and LeNail, A. and Lima, L. and Rothstein, J.D. and Svendsen, C.N. and Van Eyk, J.E. and Maragakis, N.J. and Kolb, Genome-wide Analyses Identify KIF5A as a Novel ALS Gene, Neuron, 97, (6), 2018, p1268-1283.e6 Journal Article, 2018 DOI TARA - Full Text

Van Rheenen, W. and Pulit, S.L. and Dekker, A.M. and Al Khleifat, A. and Brands, W.J. and Iacoangeli, A. and Kenna, K.P. and Kavak, E. and Kooyman, M. and McLaughlin, R.L. and Middelkoop, B. and Moisse, M. and Schellevis, R.D. and Shatunov, A. and Sproviero, W. and Tazelaar, G.H.P. and Van der Spek, R.A.A. and Van Doormaal, P.T.C. and Van Eijk, K.R. and Van Vugt, J. and Basak, A.N. and Blair, I.P. and Glass, J.D. and Hardiman, O. and Hide, W. and Landers, J.E. and Mora, J.S. and Morrison, K.E. and Newhouse, S. and Robberecht, W. and Shaw, C.E. and Shaw, P.J. and Van Damme, P. and Van Es, M.A. and Wray, N.R. and Al-Chalabi, A. and Van den Berg, L.H. and Veldink, J.H., Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis, European Journal of Human Genetics, 26, (10), 2018, p1537-1546 Journal Article, 2018 TARA - Full Text DOI

Chiò, A. and Mazzini, L. and D'Alfonso, S. and Corrado, L. and Canosa, A. and Moglia, C. and Manera, U. and Bersano, E. and Brunetti, M. and Barberis, M. and Veldink, J.H. and Van Den Berg, L.H. and Pearce, N. and Sproviero, W. and McLaughlin, R. and Vajda, A. and Hardiman, O. and Rooney, J. and Mora, G. and Calvo, A. and Al-Chalabi, A., The multistep hypothesis of ALS revisited, Neurology, 91, (7), 2018, pe635-e642 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 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, Frontiers in Neurology, 8, 2017, p395- Journal Article, 2017 TARA - Full Text

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 DOI TARA - Full Text

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

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 TARA - Full Text DOI

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

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

Tom Burke, Marta Pinto-Grau, Katie Lonergan, Peter Bede, Meadbh O'Sullivan, Mark Heverin, Alice Vajda, Russell L McLaughlin, Niall Pender, Orla Hardiman., A Cross-sectional population-based investigation into behavioral change in amyotrophic lateral sclerosis: subphenotypes, staging, cognitive predictors, and survival, Annals of Clinical and Translational Neurology , 4, (5), 2017, p305-317 Journal Article, 2017

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 TARA - Full Text

Martiniano R, Cassidy LM, Ó'Maoldúin R, McLaughlin R, Silva NM, Manco L, Fidalgo D, Pereira T, Coelho MJ, Serra M, Burger J, Parreira R, Moran E, Valera AC, Porfirio E, Boaventura R, Silva AM, Bradley DG., The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based methods, PLoS Genetics, 13, 2017, pe1006852 Journal Article, 2017 DOI TARA - Full Text

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

Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Lajoie BR, Johnson NH, Kingsbury Z, Humphray SJ, Schellevis RD, Brands WJ, Baker M, Rademakers R, Kooyman M, Tazelaar GHP, van Es MA, McLaughlin R, Sproviero W, Shatunov A, Jones A, Al Khleifat A, Pittman A, Morgan S, Hardiman O, Al-Chalabi A, Shaw C, Smith B, Neo EJ, Morrison K, Shaw PJ, Reeves C, Winterkorn L, Wexler NS; US-Venezuela Collaborative Research Group, Housman DE, Ng CW, Li AL, Taft RJ, van den Berg LH, Bentley DR, Veldink JH, Eberle MA., Detection of long repeat expansions from PCR-free whole-genome sequence data, Genome Res., 27, 2017, p1895-1903 Journal Article, 2017 TARA - Full Text

van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis., Nature Genetics, 48, (9), 2016, p1043 - 1048 Journal Article, 2016

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 TARA - Full Text DOI URL

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

Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, NEK1 variants confer susceptibility to amyotrophic lateral sclerosis., Nature Genetics, 48, (9), 2016, p1037 - 1042 Journal Article, 2016

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

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 TARA - Full Text DOI

Aloraifi F, McDevitt T, Martiniano R, McGreevy J, McLaughlin R, Egan CM, Cody N, Meany M, Kenny E, Green AJ, Bradley DG, Geraghty JG, Bracken AP., Detection of novel germline mutations for breast cancer in non-BRCA1/2 families., FEBS J., 282, (17), 2015, p3424 - 3437 Journal Article, 2015 DOI

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

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

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, 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

Genetics of ALS in, Susanne A. Schneider, José M. Tomás Brás , Movement Disorder Genetics, Springer, 2015, pp385 - 410, [Russell McLaughlin] Book Chapter, 2015

Jones ER, Gonzalez-Fortes G, Connell S, Siska V, Eriksson A, Martiniano R, McLaughlin RL, Gallego Llorente M, Cassidy LM, Gamba C, Meshveliani T, Bar-Yosef O, Müller W, Belfer-Cohen A, Matskevich Z, Jakeli N, Higham TF, Currat M, Lordkipanidze D, Hofreiter M, Manica A, Pinhasi R, Bradley DG, Upper Palaeolithic genomes reveal deep roots of modern Eurasians., Nature communications, 6, 2015, p8912 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

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 URL DOI

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

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 DOI TARA - Full Text

Gamba C, Jones ER, Teasdale MD, McLaughlin RL, Gonzalez-Fortes G, Mattiangeli V, Domboróczki L, K"vári I, Pap I, Anders A, Whittle A, Dani J, Raczky P, Higham TF, Hofreiter M, Bradley DG, Pinhasi R, Genome flux and stasis in a five millennium transect of European prehistory., Nature Communications, 5, 2014, p5257 Journal Article, 2014

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

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 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

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

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 TARA - Full Text DOI

van Rheenen W, Diekstra F.P, van Doormaal P.T.C, Seelen M, Kenna K, McLaughlin R, Shatunov A, Czell D, van Es M.A, van Vught P.W.J, van Damme P, Smith B.N, Waibel S, Schelhaas H.J, van der Kooi A.J, de Visser M, Weber M, Robberecht W, Hardiman O, Shaw P.J, Shaw C.E, Morrison K.E, Al-Chalabi A, Andersen P.M, Ludolph A.C, Veldink J.H, Van den Berg L.H, H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis, Neurobiology of Aging, 34, (5), 2013 Journal Article, 2013 DOI URL

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

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

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

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, 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

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 DOI URL

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

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 URL DOI