Publications

Publications Euro-MOTOR Consortium

1 Family history of neurodegenerative and vascular diseases in ALS M.H.B. Huisman, MD, S.W. de Jong, MD, M.C. Verwijs, H.J. Schelhaas, MD, PhD, A.J. van der Kooi, MD, PhD, M. de Visser, MD, PhD, J.H. Veldink, MD, PhD* and L.H. van den Berg, MD, PhD Neurology 77 1363-1369 21-9-2011 10.1212/WNL.0b013e318231530b

2 An ALS case with a novel D90N-SOD1 heterozygous missense mutation Andrea Calvo , Antonio Ilardi , Cristina Moglia , Antonio Canosa , Giovanna Carrara , Consuelo Valentini , Irene Ossola , Maura Brunetti , Gabriella Restagno , Adriano Chiò Amyotrophic Lateral Sclerosis Vol. 13/Issue 4 393-395 1-6-2012 10.319/17482968.2012.673170

3 Systemic Down-Regulation of Delta-9 Desaturase Promotes Muscle Oxidative Metabolism and Accelerates Muscle Function Recovery following Nerve Injury Ghulam Hussain, Florent Schmitt, Alexandre Henriques, Thiebault Lequeu, Frederique Rene, Francoise Bindler, Syvie Dirrig-Grosch, Hugues Oudart, Lavinia Palamiuc, Marie-Helene Metz-Boutigue, Luc Dupuis, Eric Marchioni, Jose-Luis Gonzalez de Aguilar, Jean-Philippe Loefler PLoS One 8 1-sep 13-6-2013 10.1371/journal.pone.0064525

4 DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts. Zhernakova DV, de Klerk E, Westra HJ, Mastrokolias A, Amini S, Ariyurek Y, Jansen R, Penninx BW, Hottenga JJ, Willemsen G, de Geus EJ, Boomsma DI, Veldink JH, van den Berg LH, Wijmenga C, den Dunnen JT, van Ommen GJ, 't Hoen PA, Franke L. PLoS Genetics 9 1003594 20-6-2013 10.1371/journal.pgen.1003594

5 ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN Ewout Groen, Katsumi Fumoto, Anna Blokhuis, JooYeon Engelen-Lee, Dianne van den Heuvel, Max Koppers, Femke van Diggelen, Jessica van Heest, Jeroen Demmers, Janine Kirby, Pamela Shaw, Eleonora Aronica, Wim Spliet, Jan Veldink, Leonard van den Berg, Jeroen Pasterkamp Human Molecular Genetics 22 3690-3704 15-5-2013 10.1093/hmg/ddt222

6 Are professional soccer players at higher risk for ALS? Ettore Beghi Amyotrophic Lateral Sclerosis 1 1-jun 25-5-2013 10.3109/21678421.2013.809764

7 The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian Syndromes Marianne Stockmann, Marie Meyer-Ohlendorf, Kevin Achberger, Stefan Putz, Maria Demestre, Haishan Yin, Corinna Hendrich, Leonhard Linta, Jutta Heinrich, Cornelia Brunner, Christian Proepper, Georges Kuh, Bernd Baumann, Torben Langer, Birgit Schwalenstocker, Kerstin Braunstein, Christine von Arnim, Stephan Schneuwly, Thomas Meyer, Philip Wong, Tobias Boeckers, Albert Ludolph, Stefan Liebau Journal of Neural Transmission 120 785-798 11-11-2011 10.1007/s00702-012-0910-z

8 Aggregation of neurologic and neuropsychiatric disease in ALS kindreds: A population based case controlled cohort study of Familial and Sporadic ALS. Byrne S, Heverin M, Elamin M, Bede P, Lynch C, Kenna K, Maclaughlin R, Walsh C, Al Chalabi A, Hardiman O. Annals of Neurology Epub ahead of print 1 9-7-2013 10.1002/ana.23969

9 Credibility Analysis of Putative Disease-Causing Genes Using Bioinformatics Olubunmi Abel, John Powell, Peter Andersen, Ammar Al-Chalabi PLoS One 8 64899 5-6-2013 10.1371/journal.pone.0064899

10 Homozygosity analysis in amyotrophic lateral sclerosis Kin Mok, Hannu Laaksovirta, Pentti J Tienari, Terhi Peuralinna, Liisa Myllykangas, Adriano Chiò, Bryan J Traynor, Michael A Nalls, Nicole Gurunlian, Aleksey Shatunov, Gabriella Restagno, Gabriele Mora, P Nigel Leigh9, Chris E Shaw6, Karen E Morrison, Pamela J Shaw, Ammar Al-Chalabi, John Hardy and Richard W Orrell European Journal of Human Genetics 2013 1-jul 24-4-2013 10.1038/ejhg.2013.59

11 Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat Ashley R. Jones, Ione Woollacott, Aleksey Shatunov, Johnathan Cooper-Knock, Vladimir Buchman, d, William Sproviero, Bradley Smitha, Kirsten M. Scotta, Rubika Balendraa, Olubunmi Abel, Peter McGuffin, Catherine M. Ellis, Pamela J. Shaw, Karen E. Morrison, Anne Farmere, Cathryn M. Lewise, h, P. Nigel Leigha, , Christopher E. Shawa, John F. Powell, Ammar Al-Chalabi, Neurobiology of Aging 34 2234 12-4-2013 10.1016/j.neurobiolaging.2013.03.003

12 H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis Wouter van Rheenen, Frank P. Diekstra, Perry T.C. van Doormaal, Meinie Seelen, Kevin Kenna, Russell McLaughlin, Aleksey Shatunov, David Czell, Michael A. van Es, Paul W.J. van Vught, 1, Philip van Damme, Bradley N. Smith, Stefan Waibel, H. Jurgen Schelhaas, Anneke J. van der Kooih, Marianne de Visserh, Markus Weber, Wim Robberecht, Orla Hardiman, Pamela J. Shaw, Christopher E. Shaw, Karen E. Morrisonj, Ammar Al-Chalabic, Peter M. Andersen, Albert C. Ludolph, Jan H. Veldink, Leonard H. van den Berg Neurobiology of Aging 5 1517 11-10-2012 10.1016/j.neurobiolaging.2012.07.020

13 Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis Lorna Taylor, Richard Brown, Stella Tsermentseli, Ammar Al-Chalabi, Chrisstopher Shaw, Catherine Ellis, Nigel Leigh, Laura Goldstein Journal of Neurology, Neurosurgery and Psychiatry 84 494-498 2-10-2012 10.1136/jnnp-2012-303851

14 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1 The ALSGEN Consortium Neurobiology of Aging 34 357 29-7-2012 10.1016/j.neurobiolaging.2012.07.017

15 Proteome-Wide Analysis of Disease-Associated SNPs That Show Allele-Specific Transcription Factor Binding Falk Butter, Lucy Davison, Tar Viturawong, Marion Scheibe, Michiel Vermeulen, John A. Todd, Matthias Mann PLoS Genetics 8 1002982 27-9-2012 10.1371/journal.pgen.1002982

16 Local axonal function of STAT3 rescues axon degeneration in the pmn model of motoneuron disease Bhuvaneish Selvaraj, Nicolas Frank, Florian Bender, Esther Asan, Michael Sendtner Journal of Cell Biology 199 437-451 29-10-2012 10.1083/jcb.201203109

17 Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation. Buchman VL, Cooper-Knock J, Connor-Robson N, Higginbottom A, Kirby J, Razinskaya OD, Ninkina N, Shaw PJ. Molecular Neurodegeneration 8 8-dec 8-1-2012 10.1186/1750-1326-8-12

18 C9ORF72 expansions, parkinsonism, and Parkinson disease: A clinicopathologic study Cooper-Knock J, Frolov A, Highley JR, Charlesworth G, Kirby J, Milano A, Hartley J, Ince PG, McDermott CJ, Lashley T, Revesz T, Shaw PJ, Wood NW, Bandmann O. Neurology 81 808-811 24-7-2013 10.1212/WNL.0b013e3182a2cc38

19 Mutant Copper-Zinc Superoxide Dismutase (SOD1) Induces Protein Secretion Pathway Alterations and Exosome Release in Astrocytes Manuela Basso, Silvia Pozzi, Massimo Tortarolo, Fabio Fiordaliso, Cinzia Bisighini, Laura Pasetto, Gabriella Spaltro, Dario Lidonnici, Francesco Gensano, Elisa Battaglia, Caterina Bendotti,and Valentina Bonetto From the ‡Dulbecco Telethon Institute, Journal of Biological Chemistry 288 15699-15711 16-4-2013 10.1074/jbc.M112.425066

20 Degeneration of serotonergic neurons in amyotrophic lateral sclerosis: a link to spasticity Dentel C, Palamiuc L, Henriques A, Lannes B, Spreux-Varoquaux O, Gutknecht L, René F, Echaniz-Laguna A, Gonzalez de Aguilar JL, Lesch KP, Meininger V, Loeffler JP, Dupuis L. Brain; a journal of neurology 136 483-493 31-10-2012 10.1093/brain/aws274

21 Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis Kabashi E, El Oussini H, Bercier V, Gros-Louis F, Valdmanis PN, McDearmid J, Mejier IA, Dion PA, Dupre N, Hollinger D, Sinniger J, Dirrig-Grosch S, Camu W, Meininger V, Loeffler JP, René F, Drapeau P, Rouleau GA, Dupuis L. Human Molecular Genetics 22 2350-2360 26-2-2013 10.1093/hmg/ddt080

22 Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age. Eschbach J, Sinniger J, Bouitbir J, Fergani A, Schlagowski AI, Zoll J, Geny B, René F, Larmet Y, Marion V, Baloh RH, Harms MB, Shy ME, Messadeq N, Weydt P, Loeffler JP, Ludolph AC, Dupuis L. Neurobiology of Disease 58 220-230 4-6-2013 10.1016/j.nbd.2013.05.015

23 The role of heat shock proteins in Amyotrophic Lateral Sclerosis: The therapeutic potential of Arimoclomol. Kalmar B, Lu CH, Greensmith L. Pharmacology and Therapeutics ? ? 23-8-2013 10.1016/j.pharmthera.2013.08.003

24 Treatment with a coinducer of the heat shock response delays muscle denervation in the SOD1-G93A mouse model of amyotrophic lateral sclerosis. Kalmar B, Edet-Amana E, Greensmith L. Amyotrophic Lateral Sclerosis 13 378-92 16-5-2012 10.3109/17482968.2012.660953

25 Plasma neurofilament heavy chain levels correlate to markers of late stage disease progression and treatment response in SOD1(G93A) mice that model ALS. Lu CH, Petzold A, Kalmar B, Dick J, Malaspina A, Greensmith L. PLoS One 7 40998 16-7-2012 10.1371/journal.pone.0040998

26 Hydroximic acid derivatives: pleiotropic hsp co-inducers restoring homeostasis and robustness. Crul T, Toth N, Piotto S, Literati-Nagy P, Tory K, Haldimann P, Kalmar B, Greensmith L, Torok Z, Balogh G, Gombos I, Campana F, Concilio S, Gallyas F, Nagy G, Berente Z, Gungor B, Peter M, Glatz A, Hunya A, Literati-Nagy Z, Vigh L Jr, Hoogstra-Berends F, Heeres A, Kuipers I, Loen L, Seerden JP, Zhang D, Meijering RA, Henning RH, Brundel BJ, Kampinga HH, Koranyi L, Szilvassy Z, Mandl J, Sumegi B, Febbraio MA, Horvath I, Hooper PL, Vigh L. Current Pharmaceutical Design 19 309-46 10-6-2013 10.2174/1381612811306030309

27 FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion. Fratta P, Malik B, Gray A, La Spada AR, Hanna MG, Fisher EM, Greensmith L. Neurobiology of Aging 34 17-19 9-10-2012 10.1016/j.neurobiolaging.2012.09.008

28 Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion. Mitchell JC, McGoldrick P, Vance C, Hortobagyi T, Sreedharan J, Rogelj B, Tudor EL, Smith BN, Klasen C, Miller CC, Cooper JD, Greensmith L, Shaw CE. Acta Neuropathologica 125 273-88 9-9-2012 10.1007/s00401-012-1043-z

29 Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy. Malik B, Nirmalananthan N, Gray AL, La Spada AR, Hanna MG, Greensmith L. Brain; a journal of neurology 136 926-43 7-2-2012 10.1093/brain/aws343

30 Global Epidemiology of Amyotrophic Lateral Sclerosis: A Systematic Review of the Published Literature Chiò A. · Logroscino G. · Traynor B.J. · Collins J. · Simeone J.C. · Goldstein L.A. · White L.A. Neuroepidemiology 41 118-130 11-7-2013 10.1159/000351153

31 Genetic counselling in ALS: facts, uncertainties and clinical suggestions Adriano Chiò, Stefania Battistini, Andrea Calvo, Claudia Caponnetto, Francesca L Conforti, Massimo Corbo, Fabio Giannini, Jessica Mandrioli, Gabriele Mora, Mario Sabatelli, the ITALSGEN Consortium,, Clara Ajmone, Enza Mastro, Debora Pain, Paola Mandich, Silvana Penco, Gabriella Restagno, Marcella Zollino, Antonella Surbone Journal of Neurology, Neurosurgery and Psychiatry ? 1-aug 26-9-2013 10.1136/jnnp-2013-305546

32 The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms Antonino Cannas, Giuseppe Borghero, Gian Luca Floris, Paolo Solla, Adriano Chiò, Bryan J. Traynor, Andrea Calvo, Gabriella Restagno, Elisa Majounie, Emanuela Costantino, Valeria Piras, Loredana Lavra, Carla Pani, Gianni Orofino, Francesca Di Stefano, Paolo Tacconi, Marcello Mario Mascia, Antonella Muroni, Maria Rita Murru, Stefania Tranquilli, Daniela Corongiu, Marcella Rolesu, Stefania Cuccu, Francesco Marrosu, Maria Giovanna Marrosu Neurogenetics 14 161-166 2-4-2013 10.1007/s10048-013-0360-2

33 Evidence of multidimensionality in the ALSFRS-R Scale: a critical appraisal on its measurement properties using Rasch analysis Franco Franchignoni, Gabriele Mora, Andrea Giordano, Paolo Volanti, Adriano Chiò Journal of Neurology, Neurosurgery and Psychiatry ? 1-jun 20-3-2013 10.1136/jnnp-2012-304701

34 Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels Fernando Bartolome, Hsiu-Chuan Wu, Victoria S. Burchell, Elisavet Preza, Selina Wray, Colin J. Mahoney, Nick C. Fox, Andrea Calvo, Antonio Canosa, Cristina Moglia, Jessica Mandrioli, Adriano Chiò, Richard W. Orrell, Henry Houlden, John Hardy, Andrey Y. Abramov, Helene Plun-Favreau Neuron 78 57-64 10-4-2013 10.1016/j.neuron.2013.02.028

35 Controversies and priorities in amyotrophic lateral sclerosis Turner MR, Hardiman O, Benatar M, Brooks BR, Chio A, de Carvalho M, Ince PG, Lin C, Miller RG, Mitsumoto H, Nicholson G, Ravits J, Shaw PJ, Swash M, Talbot K, Traynor BJ, Van den Berg LH, Veldink JH, Vucic S, Kiernan MC Lancet Neurology, The 12 310-22 1-3-2013 10.1016/S1474-4422(13)70036-X

36 Extensive genetics of ALS: a population-based study in Italy. Chiò A, Calvo A, Mazzini L, Cantello R, Mora G, Moglia C, Corrado L, D'Alfonso S, Majounie E, Renton A, Pisano F, Ossola I, Brunetti M, Traynor BJ, Restagno G; PARALS. Neurology 79 1983-1989 6-11-2012 10.1212/WNL.0b013e3182735d36

37 Amyotrophic lateral sclerosis in Sardinia, insular Italy, 1995–2009 Maura Pugliatti, Leslie D. Parish, Paola Cossu, Stefania Leoni, Anna Ticca, M. Valeria Saddi, Enzo Ortu, Sebastiano Traccis, Giuseppe Borghero, Roberta Puddu, Adriano Chiò, Pietro Pirina Journal of Neurology 260 572-579 30-9-2012 10.1007/s00415-012-6681-5

38 UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study Adriano Chiòa, Gabriele Mora, Gabriella Restagno, Maura Brunetti, Irene Ossola, Marco Barberis, Luigi Ferrucci, Antonio Canosa, Umberto Manera, Cristina Moglia, Giuseppe Fuda, Bryan J. Traynor, Andrea Calvo Neurobiology of Aging 34 357.e1-357.e5 25-7-2012 10.1016/j.neurobiolaging.2012.07.016

39 Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive–compulsive disorder associated to GGGGCC expansion of the c9orf72 gene Andrea Calvo, Cristina Moglia, Antonio Canosa, Angelina Cistaro, Consuelo Valentini, Giovanna Carrara, Enzo Soldano, Antonio Ilardi, Enrica Bersano, Davide Bertuzzo, Maura Brunetti, Irene Ossola, Gabriella Restagno, Adriano Chiò Journal of Neurology 259 2723-2725 24-8-2012 10.1007/s00415-012-6640-1

40 Grey matter correlates of clinical variables in amyotrophic lateral sclerosis (ALS): a neuroimaging study of ALS motor phenotype heterogeneity and cortical focality Bede,P.; Bokde,A.; Elamin,M.; Byrne,S.; McLaughlin,R.L.; Jordan,N.; Hampel,H.; Gallagher,L.; Lynch,C.; Fagan,A.J.; Pender,N.; Hardiman,O. Journal of Neurology, Neurosurgery and Psychiatry 84 766-773 20-10-2012

41 Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing Kenna,K.P.; McLaughlin,R.L.; Byrne,S.; Elamin,M.; Heverin,M.; Kenny,E.M.; Cormican,P.; Morris,D.W.; Donaghy,C.G.; Bradley,D.G.; Hardiman,O.  Journal of Medical Genetics 50 776-783 23-7-2013 10.1136/jmedgenet-2013-101795

42 Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants Kevin P. Kenna , Russell L. McLaughlin , Orla Hardiman , Daniel G. Bradley Human Mutation Vol. 34/Issue 6 836-841 1-6-2013 10.1002/humu.22303

43 Survival analysis of irish amyotrophic lateral sclerosis patients diagnosed from 1995-2010 Rooney,J.; Byrne,S.; Heverin,M.; Corr,B.; Elamin,M.; Staines,A.; Goldacre,B.; Hardiman,O.  PLoS One 8-sep e74733 30-9-2013 10.1371/journal.pone.0074733

44 UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland Russell Lewis McLaughlin , Kevin Patrick Kenna , Alice Vajda , Susan Byrne , Daniel G. Bradley , Orla Hardiman Neurobiology of Aging Vol. 35/Issue 1 267.e9-267.e11 1-1-2014 10.1016/j.neurobiolaging.2013.07.023

45 The epidemiology of ALS: a conspiracy of genes, environment and time Ammar Al-Chalabi , Orla Hardiman Nature Reviews Neurology Vol. 9/Issue 11 617-628 15-10-2013 10.1038/nrneurol.2013.203

46 SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis E. Rubino , I. Rainero , A. Chio , E. Rogaeva , D. Galimberti , P. Fenoglio , Y. Grinberg , G. Isaia , A. Calvo , S. Gentile , A. C. Bruni , P. H. St. George-Hyslop , E. Scarpini , S. Gallone , L. Pinessi Neurology Vol. 79/Issue 15 1556-1562 9-10-2012 10.1212/WNL.0b013e31826e25df

47 No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis A. Goris , J. van Setten , F. Diekstra , S. Ripke , N. A. Patsopoulos , S. J. Sawcer , M. van Es , P. M. Andersen , J. Melki , V. Meininger , O. Hardiman , J. E. Landers , R. H. Brown , A. Shatunov , N. Leigh , A. Al-Chalabi , C. E. Shaw , B. J. Traynor , A. Chio , G. Restagno , G. Mora , R. A. Ophoff , J. R. Oksenberg , P. Van Damme , A. Compston , W. Robberecht , B. Dubois , L. H. van den Berg , P. L. De Jager , J. H. Veldink , P. I. W. de Bakker Human Molecular Genetics 1 1-jul 11-11-2013 10.1093/hmg/ddt574

48 A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case Andrea Calvo , Cristina Moglia , Antonio Canosa , Maura Brunetti , Marco Barberis , Bryan J. Traynor , Giovanna Carrara , Consuelo Valentini , Gabriella Restagno , Adriano Chiò Neurobiology of Aging 1 1-mei 1-12-2013 10.1016/j.neurobiolaging.2013.12.028

49 The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients Angelina Cistaro , Marco Pagani , Anna Montuschi , Andrea Calvo , Cristina Moglia , Antonio Canosa , Gabriella Restagno , Maura Brunetti , Bryan J. Traynor , Flavio Nobili , Giovanna Carrara , Piercarlo Fania , Leonardo Lopiano , M. Consuelo Valentini , Adriano Chiò European Journal of Nuclear Medicine and Molecular Imaging 1 1-jul 21-1-2014 10.1007/s00259-013-2667-5

50 State of play in amyotrophic lateral sclerosis genetics Alan E Renton , Adriano Chiò , Bryan J Traynor Nature Neuroscience Vol. 17/Issue 1 17-23 26-12-2013 10.1038/nn.3584

51 A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis I. Fogh et all Human Molecular Genetics 1 1-dec 21-1-2014 10.1093/hmg/ddt587

52 Systematic identification of trans eQTLs as putative drivers of known disease associations Harm-Jan Westra et al. Nature Genetics Vol. 45/Issue 10 1238-1243 8-9-2013 10.1038/ng.2756

53 Trauma and amyotrophic lateral sclerosis: a case-control study from a population-based registry E. Pupillo , P. Messina , G. Logroscino , S. Zoccolella , A. Chiò , A. Calvo , M. Corbo , C. Lunetta , A. Micheli , A. Millul , E. Vitelli , E. Beghi European Journal of Neurology Vol. 19/Issue 12 1509-1517 1-12-2012 10.1111/j.1468-1331.2012.03723.x

54 Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS F.P.Diekstra, C.G.J. Saris, W. van Rheenen, L. Franke, R.C. Jansen, M.A. van Es, P.W.J. van Vught, H.M. Blauw, E.J.N. Groen, S. Horvath, K. Estrada, F. Rivadeneira, A. Hofman, A.G. Uitterlinden, W. Robberecht, P.M. Andersen, J. Melki, V. Meininger, O. Hardiman, J.E. Landers, R.H. Brown, A. Shatunov, C.E. Shaw, P. Nigel Leigh, A. Al-Chalabi, R.A. Ophoff, L.H. van den Berg, J.H. Veldink PLoS One Vol. 7/Issue 4 e35333 11-4-2012 10.1371/journal.pone.0035333

55 EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans Annelies Van Hoecke , Lies Schoonaert , Robin Lemmens , Mieke Timmers , Kim A Staats , Angela S Laird , Elke Peeters , Thomas Philips , An Goris , Bénédicte Dubois , Peter M Andersen , Ammar Al-Chalabi , Vincent Thijs , Ann M Turnley , Paul W van Vught , Jan H Veldink , Orla Hardiman , Ludo Van Den Bosch , Paloma Gonzalez-Perez , Philip Van Damme , Robert H Brown , Leonard H van den Berg , Wim Robberecht Nature Medicine Vol. 18/Issue 9 1418-1422 26-8-2012 10.1038/nm.2901

56 The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder Smith, Newhouse, Shatunov, Vance, Topp, Johnson, Miller, Lee, Troakes, Scott, Jones, Ian Gray , J Wright , T Hortobágyi , S Al-Sarraj , B Rogelj , J Powell , Michelle Lupton , Simon Lovestone , Peter C Sapp , Weber, Nestor, Schelhaas, ALM ten Asbroek, Silani, Gellera, Taroni, Ticozzi, Van den Berg, Veldink, Van Damme, Robberecht, Shaw, Kirby, Pall, Morrison, Morris, de Belleroche, de Jong, Baas, Andersen, Landers, Brown, Weale, Al-Chalabi, Shaw European Journal of Human Genetics Vol. 21/Issue 1 102-108 1-1-2013 10.1038/ejhg.2012.98

57 UNC13A is a modifier of survival in amyotrophic lateral sclerosis Frank P. Diekstra , Paul W.J. van Vught , Wouter van Rheenen , Max Koppers , R. Jeroen Pasterkamp , Michael A. van Es , Helenius J. Schelhaas , Marianne de Visser , Wim Robberecht , Philip Van Damme , Peter M. Andersen , Leonard H. van den Berg , Jan H. Veldink Neurobiology of Aging Vol. 33/Issue 3 630.e3-630.e8 1-3-2012 10.1016/j.neurobiolaging.2011.10.029

58 Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study Sarah Debray , Valérie Race , Veerle Crabbé , Sarah Herdewyn , Gert Matthijs , An Goris , Bénédicte Dubois , Vincent Thijs , Wim Robberecht , Philip Van Damme Neurobiology of Aging Vol. 34/Issue 12 2890.e7-2890.e12 1-12-2013 10.1016/j.neurobiolaging.2013.06.009

59 Oligodendrocyte dysfunction in the pathogenesis of amyotrophic lateral sclerosis T. Philips , A. Bento-Abreu , A. Nonneman , W. Haeck , K. Staats , V. Geelen , N. Hersmus , B. Kusters , L. Van Den Bosch , P. Van Damme , W. D. Richardson , W. Robberecht Brain; a journal of neurology Vol. 136/Issue 2 471-482 1-2-2013 10.1093/brain/aws339

60 Clinical implications of recent breakthroughs in amyotrophic lateral sclerosis Philip Van Damme , Wim Robberecht Current Opinion in Neurology Vol. 26/Issue 5 466-472 1-1-2013 10.1097/WCO.0b013e328364c063

61 Genetic ablation of phospholipase C delta 1 increases survival in SOD1G93A mice Kim A. Staats , Lawrence Van Helleputte , Ashley R. Jones , André Bento-Abreu , Annelies Van Hoecke , Aleksey Shatunov , Claire L. Simpson , Robin Lemmens , Tom Jaspers , Kiyoko Fukami , Yoshikazu Nakamura , Robert H. Brown , Philip Van Damme , Adrian Liston , Wim Robberecht , Ammar Al-Chalabi , Ludo Van Den Bosch Neurobiology of Disease Vol. 60 nov-17 1-12-2013 10.1016/j.nbd.2013.08.006

62 Rapamycin increases survival in ALS mice lacking mature lymphocytes Kim A Staats , Sara Hernandez , Susann Schönefeldt , André Bento-Abreu , James Dooley , Philip Van Damme , Adrian Liston , Wim Robberecht , Ludo Van Den Bosch Molecular Neurodegeneration Vol. 8/Issue 1 31 1-1-2013 10.1186/1750-1326-8-31

63 Hdac6 deletion delays disease progression in the SOD1G93A mouse model of ALS I. Taes , M. Timmers , N. Hersmus , A. Bento-Abreu , L. Van Den Bosch , P. Van Damme , J. Auwerx , W. Robberecht Human Molecular Genetics Vol. 22/Issue 9 1783-1790 1-5-2013 10.1093/hmg/ddt028

64 Molecular Signatures of Amyotrophic Lateral Sclerosis Disease Progression in Hind and Forelimb Muscles of an SOD1 Daniele Capitanio , Michele Vasso , Antonia Ratti , Giuliano Grignaschi , Manuela Volta , Manuela Moriggi , Cristina Daleno , Caterina Bendotti , Vincenzo Silani , Cecilia Gelfi Antioxidants and Redox Signaling Vol. 17/Issue 10 1333-1350 15-11-2012 10.1089/ars.2012.4524

65 Amyotrophic Lateral Sclerosis Multiprotein Biomarkers in Peripheral Blood Mononuclear Cells Giovanni Nardo , Silvia Pozzi , Mauro Pignataro , Eliana Lauranzano , Giorgia Spano , Silvia Garbelli , Stefania Mantovani , Kalliopi Marinou , Laura Papetti , Marta Monteforte , Valter Torri , Luca Paris , Gianfranco Bazzoni , Christian Lunetta , Massimo Corbo , Gabriele Mora , Caterina Bendotti , Valentina Bonetto PLoS One Vol. 6/Issue 10 e25545 5-10-2011 10.1371/journal.pone.0025545

66 Hypoxia causes autophagic stress and derangement of metabolic adaptation in a cell model of amyotrophic lateral sclerosis Sara Cimini , Milena Rizzardini , Gloria Biella , Lavinia Cantoni Journal of Neurochemistry J Neurochem. n/a-n/a 1-1-2014 10.1111/jnc.12642

67 Transcriptomic indices of fast and slow disease progression in two mouse models of amyotrophic lateral sclerosis G. Nardo , R. Iennaco , N. Fusi , P. R. Heath , M. Marino , M. C. Trolese , L. Ferraiuolo , N. Lawrence , P. J. Shaw , C. Bendotti Brain; a journal of neurology Vol. 136/Issue 11 3305-3332 1-11-2013 10.1093/brain/awt250

68 Amyloid precursor protein (APP) contributes to pathology in the SOD1G93A mouse model of amyotrophic lateral sclerosis J. B. Bryson , C. Hobbs , M. J. Parsons , K. D. Bosch , A. Pandraud , F. S. Walsh , P. Doherty , L. Greensmith Human Molecular Genetics Vol. 21/Issue 17 3871-3882 1-9-2012 10.1093/hmg/dds215

69 Molecular Chaperone Mediated Late-Stage Neuroprotection in the SOD1G93A Mouse Model of Amyotrophic Lateral Sclerosis Sergey S. Novoselov , Wendy J. Mustill , Anna L. Gray , James R. Dick , Naheed Kanuga , Bernadett Kalmar , Linda Greensmith , Michael E. Cheetham PLoS One Vol. 8/Issue 8 e73944 30-8-2013 10.1371/journal.pone.0073944

70 Cytoplasmic dynein heavy chain: the servant of many masters Giampietro Schiavo , Linda Greensmith , Majid Hafezparast , Elizabeth M.C. Fisher Trends in Neurosciences Vol. 36/Issue 11 641-651 1-11-2013 10.1016/j.tins.2013.08.001

71 A Nonsense Mutation in Mouse Tardbp Affects TDP43 Alternative Splicing Activity and Causes Limb-Clasping and Body Tone Defects Thomas Ricketts , Philip McGoldrick , Pietro Fratta , Hugo M. de Oliveira , Rosie Kent , Vinaya Phatak , Sebastian Brandner , Gonzalo Blanco , Linda Greensmith , Abraham Acevedo-Arozena , Elizabeth M. C. Fisher PLoS One Vol. 9/Issue 1 e85962 21-1-2014 10.1371/journal.pone.0085962

72 Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA Fehrmann , Jansen , Veldink , Westra , Arends , Bonder , Fu , Deelen , Groen , Smolonska , Rinse K. Weersma , Robert M. W. Hofstra , Buurman , Sander Rensen , Wolfs , Mathieu Platteel , Alexandra Zhernakova , Clara C. Elbers , Eleanora M. Festen , Gosia Trynka , Hofker , Saris , Ophoff , van den Berg , van Heel , Wijmenga , te Meerman , Franke PLoS Genetics Vol. 7/Issue 8 e1002197 4-8-2011 10.1371/journal.pgen.1002197

73 Unraveling the Regulatory Mechanisms Underlying Tissue-Dependent Genetic Variation of Gene Expression Jingyuan Fu , Marcel G. M. Wolfs , Patrick Deelen , Harm-Jan Westra , Rudolf S. N. Fehrmann , Gerard J. te Meerman , Wim A. Buurman , Sander S. M. Rensen , Harry J. M. Groen , Rinse K. Weersma , Leonard H. van den Berg , Jan Veldink , Roel A. Ophoff , Harold Snieder , David van Heel , Ritsert C. Jansen , Marten H. Hofker , Cisca Wijmenga , Lude Franke PLoS Genetics Vol. 8/Issue 1 e1002431 19-1-2012 10.1371/journal.pgen.1002431

74 Genetics of familial amyotrophic lateral sclerosis P. N. Valdmanis , G. A. Rouleau Neurology Vol. 70/Issue 2 144-152 5-12-2007 10.1212/01.wnl.0000296811.19811.db

75 Gene expression profiling in human neurodegenerative disease Johnathan Cooper-Knock , Janine Kirby , Laura Ferraiuolo , Paul R. Heath , Magnus Rattray , Pamela J. Shaw Nature Reviews Neurology Vol. 8/Issue 9 518-530 14-8-2012 10.1038/nrneurol.2012.156

76 C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles J. Cooper-Knock , A. Higginbottom , N. Connor-Robson , N. Bayatti , J. J. Bury , J. Kirby , N. Ninkina , V. L. Buchman , P. J. Shaw Neurology Vol. 81/Issue 19 1719-1721 5-11-2013 10.1212/01.wnl.0000435295.41974.2e

77 Comparison of Blood RNA Extraction Methods Used for Gene Expression Profiling in Amyotrophic Lateral Sclerosis Nadhim Bayatti , Johnathan Cooper-Knock , Joanna J. Bury , Matthew Wyles , Paul R. Heath , Janine Kirby , Pamela J. Shaw PLoS One Vol. 9/Issue 1 e87508 27-1-2014 10.1371/journal.pone.0087508

78 The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype Johnathan Cooper-Knock , Pamela J. Shaw , Janine Kirby Acta Neuropathologica Vol. 127/Issue 3 333-345 1-3-2014 10.1007/s00401-014-1251-9

79 Neuronal dark matter: the emerging role of microRNAs in neurodegeneration Emily F. Goodall , Paul R. Heath , Oliver Bandmann , Janine Kirby , Pamela J. Shaw Frontiers in Cellular Neuroscience Vol. 7 0 1-1-2013 10.3389/fncel.2013.00178

80 Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics Paul R. Heath , Janine Kirby , Pamela J. Shaw Frontiers in Cellular Neuroscience Vol. 7 0 1-1-2013 10.3389/fncel.2013.00259

81 Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72 A. Ismail , J. Cooper-Knock , J. R. Highley , A. Milano , J. Kirby , E. Goodall , J. Lowe , I. Scott , C. S. Constantinescu , S. J. Walters , S. Price , C. J. McDermott , S. Sawcer , D. A. S. Compston , B. Sharrack , P. J. Shaw Journal of Neurology, Neurosurgery and Psychiatry Vol. 84/Issue 1 79-87 1-1-2013 10.1136/jnnp-2012-303326

82 Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin ( J. Kirby , J. R. Highley , L. Cox , E. F. Goodall , C. Hewitt , J. A. Hartley , H. C. Hollinger , M. Fox , P. G. Ince , C. J. McDermott , P. J. Shaw Neuropathology and Applied Neurobiology Vol. 39/Issue 5 562-571 1-8-2013 10.1111/nan.12007

83 HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease Constantin d'Ydewalle , Jyothsna Krishnan , Driss M Chiheb , Philip Van Damme , Joy Irobi , Alan P Kozikowski , Pieter Vanden Berghe , Vincent Timmerman , Wim Robberecht , Ludo Van Den Bosch Nature Medicine Vol. 17/Issue 8 968-974 24-7-2011 10.1038/nm.2396

84 Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology M. H. B. Huisman , S. W. de Jong , P. T. C. van Doormaal , S. S. Weinreich , H. J. Schelhaas , A. J. van der Kooi , M. de Visser , J. H. Veldink , L. H. van den Berg Journal of Neurology, Neurosurgery and Psychiatry Vol. 82/Issue 10 1165-1170 1-10-2011 10.1136/jnnp.2011.244939

85 Evidence for an oligogenic basis of amyotrophic lateral sclerosis M. van Blitterswijk , M. A. van Es , E. A. M. Hennekam , D. Dooijes , W. van Rheenen , J. Medic , P. R. Bourque , H. J. Schelhaas , A. J. van der Kooi , M. de Visser , P. I. W. de Bakker , J. H. Veldink , L. H. van den Berg Human Molecular Genetics Vol. 21/Issue 17 3776-3784 1-9-2012 10.1093/hmg/dds199

86 VCP mutations in familial and sporadic amyotrophic lateral sclerosis Max Koppers , Marka M. van Blitterswijk , Lotte Vlam , Paulina A. Rowicka , Paul W.J. van Vught , Ewout J.N. Groen , Wim G.M. Spliet , JooYeon Engelen-Lee , Helenius J. Schelhaas , Marianne de Visser , Anneke J. van der Kooi , W-Ludo van der Pol , R. Jeroen Pasterkamp , Jan H. Veldink , Leonard H. van den Berg Neurobiology of Aging Vol. 33/Issue 4 837.e7-837.e13 1-4-2012 10.1016/j.neurobiolaging.2011.10.006

87 Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2 P. Van Damme , J. H. Veldink , M. van Blitterswijk , A. Corveleyn , P. W. J. van Vught , V. Thijs , B. Dubois , G. Matthijs , L. H. van den Berg , W. Robberecht Neurology Vol. 76/Issue 24 2066-2072 14-6-2011 10.1212/WNL.0b013e31821f445b

88 No evidence for a large difference in ALS frequency in populations of African and European origin: A population based study in inner city London Ricardo Rojas-Garcia , Kirsten M. Scott , Jose Carlos Roche , William Scotton , Naomi Martin , Anna Janssen , Laura H. Goldstein , P. Nigel Leigh , Cathy M. Ellis , Christopher E. Shaw , Ammar Al-Chalabi Amyotrophic Lateral Sclerosis Vol. 13/Issue 1 66-68 1-1-2012 10.3109/17482968.2011.636049

89 The risk to relatives of patients with sporadic amyotrophic lateral sclerosis M. F. Hanby , K. M. Scott , W. Scotton , L. Wijesekera , T. Mole , C. E. Ellis , P. Nigel Leigh , C. E. Shaw , A. Al-Chalabi Brain; a journal of neurology Vol. 134/Issue 12 3454-3457 1-12-2011 10.1093/brain/awr248

90 The chromosome 9 ALS and FTD locus is probably derived from a single founder Mok , Traynor , Schymick , Tienari , aaksovirta , Peuralinna , Myllykangas , Chiò , Shatunov , Boeve , Boxer , DeJesus-Hernandez , Mackenzie , Adrian Waite , Nigel Williams , Huw R. Morris , Simón-Sánchez , van Swieten , Heutink , Gabriella Restagno , Gabriele Mora , Karen E. Morrison , Shaw , Rollinson , Al-Chalabi , Rademakers , Pickering-Brown , Orrell , Nalls , Hardy Neurobiology of Aging Vol. 33/Issue 1 209.e3-209.e8 1-1-2012 10.1016/j.neurobiolaging.2011.08.005

91 Loss of nuclear TDP-43 in ALS causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurons J Robin Highley , Janine Kirby , Joeri A Jansweijer , Philip S Webb , Channa A Hewamadduma , Paul R Heath , Adrian Higginbottom , Rohini Raman , Laura Ferraiuolo , Johnathan Cooper-Knock , Christopher J McDermott , Stephen B Wharton , Pamela J Shaw , Paul G Ince Neuropathology and Applied Neurobiology 0 n/a-n/a 1-4-2014 10.1111/nan.12148

92 Gene expression signatures in motor neuron disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions Rohini Raman , Scott P Allen , Emily F Goodall , Shelley Kramer , Lize-Linde Ponger , Paul R. Heath , Marta Milo , Hannah C. Hollinger , Theresa Walsh , J Robin Highley , Simon Olpin , Christopher J. McDermott , Pamela J. Shaw , Janine Kirby Neuropathology and Applied Neurobiology 0 n/a-n/a 1-4-2014 10.1111/nan.12147

93 Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease Ammar Al-Chalabi , Cathryn M. Lewis Human Heredity Vol. 71/Issue 4 281-288 1-1-2011 10.1159/000330167

94 Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databases Christina M. Lill , Olubunmi Abel , Lars Bertram , Ammar Al-Chalabi Amyotrophic Lateral Sclerosis Vol. 12/Issue 4 238-249 1-7-2011 10.3109/17482968.2011.584629

95 Clinical diagnosis and management of amyotrophic lateral sclerosis Orla Hardiman , Leonard H. van den Berg , Matthew C. Kiernan Nature Reviews Neurology Vol. 7/Issue 11 639-649 11-10-2011 10.1038/nrneurol.2011.153

96 Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis Laura Ferraiuolo , Janine Kirby , Andrew J. Grierson , Michael Sendtner , Pamela J. Shaw Nature Reviews Neurology Vol. 7/Issue 11 616-630 1-11-2011 10.1038/nrneurol.2011.152

97 ALS clinical trials: Do enrolled patients accurately represent the ALS population? A. Chio , A. Canosa , S. Gallo , S. Cammarosano , C. Moglia , G. Fuda , A. Calvo , M. Gabriele Neurology Vol. 77/Issue 15 1432-1437 11-10-2011 10.1212/WNL.0b013e318232ab9b

98 A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD Renton , ajounie , Waite , Simón-Sánchez , Rollinson , Raphael Gibbs , Schymick , Laaksovirta , van Swieten , Myllykangas , Hannu Kalimo , Paetau , Abramzon , Remes , Kaganovich , Scholz , Duckworth , Ding , Harmer , Dena G. Hernandez , Johnson , Kin Mok , Mina Ryten , Danyah Trabzuni , Rita J. Guerreiro , Orrell , Neal , Murray , Pearson , Jansen , Sondervan , Seelaar , Blake , Young , Halliwell , Callister , Toulson , Richardson , Alex Gerhard , Snowden , Mann , Neary , Nalls , et al  Neuron Vol. 72/Issue 2 257-268 1-10-2011 10.1016/j.neuron.2011.09.010

99 Muscle Gene Expression Is a Marker of Amyotrophic Lateral Sclerosis Severity Pierre-François Pradat , Odile Dubourg , Marc de Tapia , Franck di Scala , Luc Dupuis , Timothee Lenglet , Gaëlle Bruneteau , François Salachas , Lucette Lacomblez , Jean-Christophe Corvol , Philippe Demougin , Michael Primig , Vincent Meininger , Jean-Philippe Loeffler , Jose-Luis Gonzalez de Aguilar Neurodegenerative Diseases Vol. 9/Issue 1 38-52 1-1-2012 10.1159/000329723

100 Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis? Alexandre Henriques , Jose-Luis Gonzalez De Aguilar Current Genomics Vol. 12/Issue 7 506-515 1-11-2011 10.2174/138920211797904043

101 Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: Implication for protein aggregation and immune response Caterina Bendotti , Marianna Marino , Cristina Cheroni , Elena Fontana , Valeria Crippa , Angelo Poletti , Silvia De Biasi Progress in Neurobiology Vol. 97/Issue 2 101-126 1-5-2012 10.1016/j.pneurobio.2011.10.001

102 Benefit of the Awaji diagnostic algorithm for amyotrophic lateral sclerosis: A prospective study Maarten Schrooten , Charlotte Smetcoren , Wim Robberecht , Philip Van Damme Annals of Neurology Vol. 70/Issue 1 79-83 1-7-2011 10.1002/ana.22380

103 Neuroinflammation in amyotrophic lateral sclerosis: role of glial activation in motor neuron disease Thomas Philips , Wim Robberecht Lancet Neurology, The Vol. 10/Issue 3 253-263 1-3-2011 10.1016/S1474-4422(11)70015-1

104 ELP3 Controls Active Zone Morphology by Acetylating the ELKS Family Member Bruchpilot Katarzyna Miśkiewicz , Liya E. Jose , André Bento-Abreu , Marcus Fislage , Ines Taes , Jarosław Kasprowicz , Jef Swerts , Stephan Sigrist , Wim Versées , Wim Robberecht , Patrik Verstreken Neuron Vol. 72/Issue 5 776-788 1-12-2011 10.1016/j.neuron.2011.10.010

105 CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis Ewout J.N. Groen , Wouter van Rheenen , Max Koppers , Perry T.C. van Doormaal , Lotte Vlam , Frank P. Diekstra , Dennis Dooijes , R. Jeroen Pasterkamp , Leonard H. van den Berg , Jan H. Veldink Neurobiology of Aging Vol. 33/Issue 8 1852.e1-1852.e3 1-8-2012 10.1016/j.neurobiolaging.2012.03.007

106 NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis H. M. Blauw , W. van Rheenen , M. Koppers , P. Van Damme , S. Waibel , R. Lemmens , P. W. J. van Vught , T. Meyer , C. Schulte , T. Gasser , E. Cuppen , R. J. Pasterkamp , W. Robberecht , A. C. Ludolph , J. H. Veldink , L. H. van den Berg Human Molecular Genetics Vol. 21/Issue 11 2497-2502 1-6-2012 10.1093/hmg/dds064

107 Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients Marka van Blitterswijk , Anna Blokhuis , Michael A. van Es , Paul W.J. van Vught , Paulina A. Rowicka , Helenius J. Schelhaas , Anneke J. van der Kooi , Marianne de Visser , Jan H. Veldink , Leonard H. van den Berg Neurobiology of Aging Vol. 33/Issue 8 1845.e1-1845.e3 1-8-2012 10.1016/j.neurobiolaging.2012.01.007

108 On the development of markers for pathological TDP-43 in amyotrophic lateral sclerosis with and without dementia F. Geser , D. Prvulovic , L. O’Dwyer , O. Hardiman , P. Bede , A.L.W. Bokde , J.Q. Trojanowski , H. Hampel Progress in Neurobiology Vol. 95/Issue 4 649-662 1-12-2011 10.1016/j.pneurobio.2011.08.011

109 A Distinct MR Imaging Phenotype in Amyotrophic Lateral Sclerosis: Correlation between T1 Magnetization Transfer Contrast Hyperintensity along the Corticospinal Tract and Diffusion Tensor Imaging Analysis G. Carrara , C. Carapelli , F. Venturi , M. M. Ferraris , L. Lequio , A. Chio , A. Calvo , S. Sirgiovanni , A. Cistaro , M. C. Valentini American Journal of Neuroradiology Vol. 33/Issue 4 733-739 1-4-2012 10.3174/ajnr.A2855

110 A proposed staging system for amyotrophic lateral sclerosis J. C. Roche , R. Rojas-Garcia , K. M. Scott , W. Scotton , C. E. Ellis , R. Burman , L. Wijesekera , M. R. Turner , P. N. Leigh , C. E. Shaw , A. Al-Chalabi Brain; a journal of neurology Vol. 135/Issue 3 847-852 1-3-2012 10.1093/brain/awr351

111 MixupMapper: correcting sample mix-ups in genome-wide datasets increases power to detect small genetic effects H.-J. Westra , R. C. Jansen , R. S. N. Fehrmann , G. J. te Meerman , D. van Heel , C. Wijmenga , L. Franke Bioinformatics Vol. 27/Issue 15 2104-2111 1-8-2011 10.1093/bioinformatics/btr323

112 UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands Perry T.C. van Doormaal , Wouter van Rheenen , Marka van Blitterswijk , Raymond D. Schellevis , Helenius J. Schelhaas , Marianne de Visser , Anneke J. van der Kooi , Jan H. Veldink , Leonard H. van den Berg Neurobiology of Aging Vol. 33/Issue 9 2233.e7-2233.e8 1-9-2012 10.1016/j.neurobiolaging.2012.02.032

113 Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis S. Herdewyn , H. Zhao , M. Moisse , V. Race , G. Matthijs , J. Reumers , B. Kusters , H. J. Schelhaas , L. H. van den Berg , A. Goris , W. Robberecht , D. Lambrechts , P. Van Damme Human Molecular Genetics Vol. 21/Issue 11 2412-2419 1-6-2012 10.1093/hmg/dds055

114 Infection of the Central Nervous System, Sepsis and Amyotrophic Lateral Sclerosis Fang Fang , Honglei Chen , Karin Wirdefeldt , Lars-Olof Ronnevi , Ammar Al-Chalabi , Tracy L. Peters , Freya Kamel , Weimin Ye PLoS One Vol. 6/Issue 12 e29749 27-12-2011 10.1371/journal.pone.0029749

115 Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72 J. Cooper-Knock , C. Hewitt , J. R. Highley , A. Brockington , A. Milano , S. Man , J. Martindale , J. Hartley , T. Walsh , C. Gelsthorpe , L. Baxter , G. Forster , M. Fox , J. Bury , K. Mok , C. J. McDermott , B. J. Traynor , J. Kirby , S. B. Wharton , P. G. Ince , J. Hardy , P. J. Shaw Brain; a journal of neurology Vol. 135/Issue 3 751-764 1-3-2012 10.1093/brain/awr365

116 Tubulin-binding cofactor B is a direct interaction partner of the dynactin subunit p150Glued Georges F. Kuh , Marianne Stockmann , Marie Meyer-Ohlendorf , Leonhard Linta , Christian Proepper , Albert C. Ludolph , Juergen Bockmann , Tobias M. Boeckers , Stefan Liebau Cell and Tissue Research Vol. 350/Issue 1 13-26 1-10-2012 10.1007/s00441-012-1463-z

117 Charcot-Marie-Tooth disease: Emerging mechanisms and therapies Constantin d’Ydewalle , Veronick Benoy , Ludo Van Den Bosch International Journal of Biochemistry and Cell Biology Vol. 44/Issue 8 1299-1304 1-8-2012 10.1016/j.biocel.2012.04.020

118 HDAC6 at the Intersection of Neuroprotection and Neurodegeneration Constantin d'Ydewalle , Elke Bogaert , Ludo Van Den Bosch Traffic Vol. 13/Issue 6 771-779 1-6-2012 10.1111/j.1600-0854.2012.01347.x

119 Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study Elisa Majounie , Alan E Renton , Kin Mok , Elise GP Dopper , Adrian Waite , Richard W Orrell , Simon Mead , Katie C Sidle , Henry Houlden , Jonathan D Rohrer , Karen E Morrison , Hardev Pall , Kevin Talbot , Olaf Ansorge , Dena G Hernandez , Sampath Arepalli , Chin-Song Lu , Tu-Hsueh Yeh , Hiroyuki Ishiura , Yuji Takahashi , Nigel Williams , Janine Kirby , Pamela Shaw , John Hardy , Pentti J Tienari , Peter Heutink , Huw R Morris , Stuart Pickering-Brown , Bryan J Traynor et al Lancet Neurology, The Vol. 11/Issue 4 323-330 1-4-2012 10.1016/S1474-4422(12)70043-1

120 C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population Mario Sabatelli , Francesca Luisa Conforti , Marcella Zollino , Gabriele Mora , Maria Rosaria Monsurrò , Paolo Volanti , Kalliopi Marinou , Fabrizio Salvi ,Antonio Gambardella , Giancarlo Logroscino , Isabella Simone , Ilaria Bartolomei , Fabrizio Pisano , Gioacchino Tedeschi , Paola Mandich , Maura Pugliatti , Carmelo Rodolico , Cristina Moglia , Andrea Calvo , Irene Ossola , Maura Brunetti , Bryan J. Traynor , Giuseppe Borghero , Gabriella Restagno , Adriano Chiò et al Neurobiology of Aging Vol. 33/Issue 8 1848.e15-1848.e20 1-8-2012 10.1016/j.neurobiolaging.2012.02.011

121 Brain hypermetabolism in amyotrophic lateral sclerosis: a FDG PET study in ALS of spinal and bulbar onset Angelina Cistaro , Maria Consuelo Valentini , Adriano Chiò , Flavio Nobili , Andrea Calvo , Cristina Moglia , Anna Montuschi , Silvia Morbelli , Dario Salmaso , Piercarlo Fania , Giovanna Carrara , Marco Pagani European Journal of Nuclear Medicine and Molecular Imaging Vol. 39/Issue 2 251-259 1-2-2012 10.1007/s00259-011-1979-6

122 ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations A. Chio , G. Restagno , M. Brunetti , I. Ossola , A. Calvo , A. Canosa , C. Moglia , G. Floris , P. Tacconi , F. Marrosu , M. G. Marrosu , M. R. Murru , E. Majounie , A. E. Renton , Y. Abramzon , M. Pugliatti , M. A. Sotgiu , B. J. Traynor , G. Borghero Journal of Neurology, Neurosurgery and Psychiatry Vol. 83/Issue 7 730-733 1-7-2012 10.1136/jnnp-2012-302219

123 Neurobehavioral dysfunction in ALS has a negative effect on outcome and use of PEG and NIV A. Chio , A. Ilardi , S. Cammarosano , C. Moglia , A. Montuschi , A. Calvo Neurology Vol. 78/Issue 14 1085-1089 3-4-2012 10.1212/WNL.0b013e31824e8f53

124 Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 A. Chio , G. Borghero , G. Restagno , G. Mora , C. Drepper , B. J. Traynor , M. Sendtner , M. Brunetti , I. Ossola , A. Calvo , M. Pugliatti , M. A. Sotgiu , M. R. Murru , M. G. Marrosu , F. Marrosu , K. Marinou , J. Mandrioli , P. Sola , C. Caponnetto , G. Mancardi , M. Zollino , S. Penco , S. Battistini , A. E. Renton , E. Majounie , Y. Abramzon , F. L. Conforti , F. Giannini , M. Corbo , M. Sabatelli et al Brain; a journal of neurology Vol. 135/Issue 3 784-793 1-3-2012 10.1093/brain/awr366

125 Pain in amyotrophic lateral sclerosis: a population-based controlled study A. Chiò , A. Canosa , S. Gallo , C. Moglia , A. Ilardi , S. Cammarosano , D. Papurello , A. Calvo European Journal of Neurology Vol. 19/Issue 4 551-555 1-4-2012 10.1111/j.1468-1331.2011.03540.x

126 Gene expression profiling in human neurodegenerative disease Johnathan Cooper-Knock , Janine Kirby , Laura Ferraiuolo , Paul R. Heath , Magnus Rattray , Pamela J. Shaw Nature Reviews Neurology Vol. 8/Issue 9 518-530 14-8-2012 10.1038/nrneurol.2012.156

127 Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases W. van Rheenen , M. van Blitterswijk , M. H. B. Huisman , L. Vlam , P. T. C. van Doormaal , M. Seelen , J. Medic , D. Dooijes , M. de Visser , A. J. van der Kooi , J. Raaphorst , H. J. Schelhaas , W. L. van der Pol , J. H. Veldink , L. H. van den Berg Neurology Vol. 79/Issue 9 878-882 28-8-2012 10.1212/WNL.0b013e3182661d14

128 VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient Marka van Blitterswijk , Michael A. van Es , Max Koppers , Wouter van Rheenen , Jelena Medic , Helenius J. Schelhaas , Anneke J. van der Kooi , Marianne de Visser , Jan H. Veldink , Leonard H. van den Berg Neurobiology of Aging Vol. 33/Issue 12 2950.e1-2950.e4 1-12-2012 10.1016/j.neurobiolaging.2012.07.004

129 The genetics and neuropathology of amyotrophic lateral sclerosis Ammar Al-Chalabi , Ashley Jones , Claire Troakes , Andrew King , Safa Al-Sarraj , Leonard H. den Berg Acta Neuropathologica Vol. 124/Issue 3 339-352 1-9-2012 10.1007/s00401-012-1022-4

130 Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients Jack W. Miller , Bradley N. Smith , Simon D. Topp , Ammar Al-Chalabi , Christopher E. Shaw , Caroline Vance Neurobiology of Aging Vol. 33/Issue 11 2721.e1-2721.e2 1-11-2012 10.1016/j.neurobiolaging.2012.06.003

131 ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics Olubunmi Abel , John F Powell , Peter M. Andersen , Ammar Al-Chalabi Human Mutation Vol. 33/Issue 9 1345-1351 1-9-2012 10.1002/humu.22157

132 Common Genetic Variants and Gene-Expression Changes Associated with Bipolar Disorder Are Over-Represented in Brain Signaling Pathway Genes Inti Pedroso , Anbarasu Lourdusamy , Marcella Rietschel , Markus M. Nöthen , Sven Cichon , Peter McGuffin , Ammar Al-Chalabi , Michael R. Barnes , Gerome Breen Biological Psychiatry Vol. 72/Issue 4 311-317 1-8-2012 10.1016/j.biopsych.2011.12.031

133 Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study Susan Byrne , Marwa Elamin , Peter Bede , Aleksey Shatunov , Cathal Walsh , Bernie Corr , Mark Heverin , Norah Jordan , Kevin Kenna , Catherine Lynch , Russell L McLaughlin , Parameswaran Mahadeva Iyer , Caoimhe O'Brien , Julie Phukan , Brona Wynne , Arun L Bokde , Daniel G Bradley , Niall Pender , Ammar Al-Chalabi , Orla Hardiman Lancet Neurology, The Vol. 11/Issue 3 232-240 1-3-2012 10.1016/S1474-4422(12)70014-5

134 Identifying potential risk factors for developing amyotrophic lateral sclerosis Adriano Chiò , Bryan J Traynor Neurodegenerative Diseases Vol. 1/Issue 6 463-471 1-12-2011 10.2217/nmt.11.64

135 Non-invasive ventilation in amyotrophic lateral sclerosis: a 10 year population based study A. Chio , A. Calvo , C. Moglia , F. Gamna , A. Mattei , L. Mazzini , G. Mora Journal of Neurology, Neurosurgery and Psychiatry Vol. 83/Issue 4 377-381 1-4-2012 10.1136/jnnp-2011-300472

136 The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study J. Phukan , M. Elamin , P. Bede , N. Jordan , L. Gallagher , S. Byrne , C. Lynch , N. Pender , O. Hardiman Journal of Neurology, Neurosurgery and Psychiatry Vol. 83/Issue 1 102-108 1-1-2012 10.1136/jnnp-2011-300188

137 Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients Lauren Johnson , Jack W. Miller , Athina Soragia Gkazi , Caroline Vance , Simon D. Topp , Stephen J. Newhouse , Ammar Al-Chalabi , Bradley N. Smith , Christopher E. Shaw Neurobiology of Aging Vol. 33/Issue 12 2948.e15-2948.e17 1-12-2012 10.1016/j.neurobiolaging.2012.06.023

138 Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study 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 Lancet Neurology, The Vol. 13/Issue 11 1108-1113 1-11-2014 10.1016/S1474-4422(14)70219-4

139 The evaluation of pain in amyotrophic lateral sclerosis: A case controlled observational study Victoria C. J. Wallace , Cathy M. Ellis , Rachel Burman , Catherine Knights , Christopher E. Shaw , Ammar Al-Chalabi Health Care and Informatics Review Online 0 1-aug 23-9-2014 10.3109/21678421.2014.951944

140 Motor neuron disease: Common genetic variants and the heritability of ALS Ammar Al-Chalabi , Peter M. Visscher Nature Reviews Neurology Vol. 10/Issue 10 549-550 9-9-2014 10.1038/nrneurol.2014.166

141 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-widemeta-analysis FP Diekstra , VM Van Deerlin , JC van Swieten , A Al-Chalabi , AC Ludolph , JH Weishaupt , O Hardiman , JE Landers , Robert H. Brown , MA van Es , RJ Pasterkamp , M Koppers , PM Andersen , K Estrada , F Rivadeneira , A Hofman , AG Uitterlinden , Pvan Damme , J Melki , V Meininger , A Shatunov , CE Shaw , PN Leigh , PJ Shaw , KE Morrison , Fogh , AChiò , BJ Traynor , D Czell , M Weber , P Heutink , PIW de Bakker , Vo Silani , W Robberecht , LH van den Berg , JH Veldink Annals of Neurology Vol. 76/Issue 1 120-133 1-7-2014 10.1002/ana.24198

142 Evidence of an environmental effect on survival in ALS Noa Keren , Kirsten M. Scott , Miho Tsuda , Jessica Barnwell , Jonathan A. Knibb , Cathy M. Ellis , P. Nigel Leigh , Christopher E. Shaw , Ammar Al-Chalabi Healthcare Papers 0 1-jun 23-9-2014 10.3109/21678421.2014.911326

143 Estimating clinical stage of amyotrophic lateral sclerosis from the ALS Functional Rating Scale Rubika Balendra , Ashley Jones , Naheed Jivraj , Catherine Knights , Catherine M. Ellis , Rachel Burman , Martin R. Turner , P. Nigel Leigh , Christopher E. Shaw , Ammar Al-Chalabi Healthcare Papers Vol. 15/Issue 3-4 279-284 1-6-2014 10.3109/21678421.2014.897357

144 Health utility decreases with increasing clinical stage in amyotrophic lateral sclerosis Ashley R. Jones , Naheed Jivraj , Rubika Balendra , Caroline Murphy , Joanna Kelly , Marie Thornhill , Carolyn Young , Pamela J. Shaw , P. Nigel Leigh , Martin R. Turner , I Nick Steen , Paul McCrone , Ammar Al-Chalabi Healthcare Papers Vol. 15/Issue 3-4 285-291 1-6-2014 10.3109/21678421.2013.872149

145 An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS Abigail L. Savage , Thomas P. Wilm , Kejhal Khursheed , Aleksey Shatunov , Karen E. Morrison , Pamela J. Shaw , Christopher E. Shaw , Bradley Smith , Gerome Breen , Ammar Al-Chalabi , Diana Moss , Vivien J. Bubb , John P. Quinn PLoS One Vol. 9/Issue 3 e90833 7-3-2014 10.1371/journal.pone.0090833

146 Psychological as well as illness factors influence acceptance of non-invasive ventilation (NIV) and gastrostomy in amyotrophic lateral sclerosis (ALS): A prospective population study Naomi H. Martin , Sabine Landau , Anna Janssen , Rebecca Lyall , Irene Higginson , Rachel Burman , Paul McCrone , Mohammed Sakel , Catherine M. Ellis , Christopher E. Shaw , Ammar Al-Chalabi , P. Nigel Leigh , Laura H. Goldstein Healthcare Papers Vol. 15/Issue 5-6 376-387 1-9-2014 10.3109/21678421.2014.886700

147 Use of clinical staging in amyotrophic lateral sclerosis for phase 3 clinical trials R. Balendra , A. Jones , N. Jivraj , I. N. Steen , C. A. Young , P. J. Shaw , M. R. Turner , P. N. Leigh , A. Al-Chalabi Journal of Neurology, Neurosurgery and Psychiatry 0 1 24-1-2014 10.1136/jnnp-2013-306865

148 Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS BN. Smith , NTicozzi , C Fallini , ASoragia Gkazi , S Topp , KP. Kenna , EL. Scotter , JKost , P Keagle , JW. Miller , D Calini , CVance , EW. Danielson , C Troakes , C Tiloca , Safa Al-Sarraj , EA. Lewis , A King , C Colombrita , V Pensato , B Castellotti , Jacqueline de Belleroche , F Baas Neuron Vol. 84/Issue 2 324-331 1-10-2014 10.1016/j.neuron.2014.09.027

149 Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study PT.C. van Doormaal , N Ticozzi , CGellera , A Ratti , F Taroni , A Chiò , A Calvo , G Mora , G Restagno , BJ. Traynor , A Birve , R Lemmens , MA. van Es , CG.J. Saris , HM. Blauw , PW.J. van Vught , Ewout J.N. Groen , Lucia Corrado , L Mazzini , Ro Del Bo , S Corti , S Waibel , T Meyer , AC. Ludolph , A Goris , Pp van Damme , W Robberecht , A Shatunov , I Fogh , P M. Andersen , S D'Alfonso , O Hardiman , S Cronin , D Rujescu , A Al-Chalabi , JE. Landers , V Silani , LH. van den Berg , JH. Veldink Neurobiology of Aging Vol. 35/Issue 10 2420.e13-2420.e14 1-10-2014 10.1016/j.neurobiolaging.2014.04.014

150 C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration Stephanie May , Daniel Hornburg , Martin H. Schludi , Thomas Arzberger , Kristin Rentzsch , Benjamin M. Schwenk , Friedrich A. Grässer , Kohji Mori , Elisabeth Kremmer , Julia Banzhaf-Strathmann , Matthias Mann , Felix Meissner , Dieter Edbauer Acta Neuropathologica Vol. 128/Issue 4 485-503 1-10-2014 10.1007/s00401-014-1329-4

151 Deep proteomic evaluation of primary and cell line motoneuron disease models delineates major differences in neuronal characteristics D. Hornburg , C. Drepper , F. Butter , F. Meissner , M. Sendtner , M. Mann Molecular and Cellular Proteomics 111 111 5-9-2014 10.1074/mcp.M113.037291

152 Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology Alexander M. Beer , Johnathan Cooper-Knock , Adrian Higginbottom , J. Robin Highley , Stephen B. Wharton , Paul G. Ince , Antonio Milano , Ashley A. Jones , Ammar Al-Chalabi , Janine Kirby , Pamela J. Shaw Amyotrophic Lateral Sclerosis 0 1-mrt 1-12-2014 10.3109/21678421.2014.977296

153 Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions J. Cooper-Knock , M. J. Walsh , A. Higginbottom , J. Robin Highley , M. J. Dickman , D. Edbauer , P. G. Ince , S. B. Wharton , S. A. Wilson , J. Kirby , G. M. Hautbergue , P. J. Shaw Brain; a journal of neurology Vol. 137/Issue 7 2040-2051 1-7-2014 10.1093/brain/awu120

154 TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions Michael D. Gallagher , Eunran Suh , Murray Grossman , Lauren Elman , Leo McCluskey , John C. Van Swieten , Safa Al-Sarraj , Manuela Neumann , et al Vivianna Van Deerlin , Alice S. Chen-Plotkin Acta Neuropathologica Vol. 127/Issue 3 407-418 1-3-2014 10.1007/s00401-013-1239-x

155 Prior medical conditions and the risk of amyotrophic lateral sclerosis Meinie Seelen , Perry T. C. van Doormaal , Anne E. Visser , Mark H. B. Huisman , Margot H. J. Roozekrans , Sonja W. de Jong , Anneke J. van der Kooi , Marianne de Visser , Nicol C. Voermans , Jan H. Veldink , Leonard H. van den Berg Journal of Neurology Vol. 261/Issue 10 1949-1956 1-10-2014 10.1007/s00415-014-7445-1

156 Residential exposure to extremely low frequency electromagnetic fields and the risk of ALS M. Seelen , R. C. H. Vermeulen , L. S. van Dillen , A. J. van der Kooi , A. Huss , M. de Visser , L. H. van den Berg , J. H. Veldink Neurology Vol. 83/Issue 19 1767-1769 4-11-2014 10.1212/WNL.0000000000000952

157 A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories C. Akimoto , A. E. Volk , M. van Blitterswijk , M. Van den Broeck , C. S. Leblond , S. Lumbroso , W. Camu , B. Neitzel , O. Onodera , W. van Rheenen , S. Pinto , M. Weber , B. Smith , M. Proven , K. Talbot , P. Keagle , A. Chesi , A. Ratti , J. van der Zee , H. Alstermark , A. Birve , D. Calini , A. Nordin , D. C. Tradowsky , W. Just , H. Daoud , S. Angerbauer , et al. Journal of Medical Genetics Vol. 51/Issue 6 419-424 1-6-2014 10.1136/jmedgenet-2014-102360

158 Amyotrophic Lateral Sclerosis Outcome Measures and the Role of Albumin and Creatinine Adriano Chiò , Andrea Calvo , Giacomo Bovio , Antonio Canosa , Davide Bertuzzo , Francesco Galmozzi , Paolo Cugnasco , Marinella Clerico , Stefania De Mercanti , Enrica Bersano , Stefania Cammarosano , Antonio Ilardi , Umberto Manera , Cristina Moglia , Riccardo Sideri , Kalliopi Marinou , Edo Bottacchi , Fabrizio Pisano , Roberto Cantello , Letizia Mazzini , Gabriele Mora JAMA Neurology Vol. 71/Issue 9 1134 1-9-2014 10.1001/jamaneurol.2014.1129

159 Heritability of Amyotrophic Lateral Sclerosis Isabella Fogh , Ammar Al-Chalabi , John Powell JAMA Neurology Vol. 71/Issue 12 1579 1-12-2014 10.1001/jamaneurol.2014.3493

160 Physical activity and amyotrophic lateral sclerosis: A European population-based case-control study Elisabetta Pupillo , Paolo Messina , Giorgia Giussani , Giancarlo Logroscino , Stefano Zoccolella , Adriano Chiò , 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 , Ettore Beghi Annals of Neurology Vol. 75/Issue 5 708-716 1-5-2014 10.1002/ana.24150

161 NADPH oxidase (NOX2) activity is a modifier of survival in ALS Giuseppe Marrali , Federico Casale , Paolina Salamone , Giuseppe Fuda , Cristiana Caorsi , Antonio Amoroso , Maura Brunetti , Gabriella Restagno , Marco Barberis , Davide Bertuzzo , Antonio Canosa , Cristina Moglia , Andrea Calvo , Adriano Chiò Journal of Neurology Vol. 261/Issue 11 2178-2183 1-11-2014 10.1007/s00415-014-7470-0

162 Predicting prognosis in amyotrophic lateral sclerosis: a simple algorithm Marwa Elamin , Peter Bede , Anna Montuschi , Niall Pender , Adriano Chio , Orla Hardiman Journal of Neurology Vol. 262/Issue 6 1447-1454 1-6-2015 10.1007/s00415-015-7731-6

163 From genome to function by studying eQTLs Harm-Jan Westra , Lude Franke Biochimica et Biophysica Acta - Molecular Basis of Disease Vol. 1842/Issue 10 1896-1902 1-10-2014 10.1016/j.bbadis.2014.04.024

164 Social deprivation and population density are not associated with small area risk of amyotrophic lateral sclerosis James P.K. Rooney , Katy Tobin , Arlene Crampsie , Alice Vajda , Mark Heverin , Russell McLaughlin , Anthony Staines , Orla Hardiman Environmental Research Vol. 142 141-147 1-10-2015 10.1016/j.envres.2015.06.024

165 A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case Andrea Calvo , Cristina Moglia , Antonio Canosa , Maura Brunetti , Marco Barberis , Bryan J. Traynor , Giovanna Carrara , Consuelo Valentini , Gabriella Restagno , Adriano Chiò Neurobiology of Aging Vol. 35/Issue 6 1513.e7-1513.e11 1-6-2014 10.1016/j.neurobiolaging.2013.12.028

166 No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy Meinie Seelen , Anne E. Visser , Daniel J. Overste , Hong J. Kim , A. Palud , Tsz H. Wong , John C. van Swieten , Philip Scheltens , Nicol C. Voermans , Frank Baas , J.M.B.V. de Jong , Anneke J. van der Kooi , Marianne de Visser , Jan H. Veldink , J. Paul Taylor , Michael A. Van Es , Leonard H. van den Berg Neurobiology of Aging Vol. 35/Issue 8 1956.e9-1956.e11 1-8-2014 10.1016/j.neurobiolaging.2014.01.152

167 Genetic architecture of ALS in Sardinia Giuseppe Borghero , Maura Pugliatti , Francesco Marrosu , Maria Giovanna Marrosu , Maria Rita Murru , Gianluca Floris , Antonino Cannas , Leslie D. Parish , Patrizia Occhineri , Tea B. Cau , Daniela Loi , Anna Ticca , Sebastiano Traccis , Umberto Manera , Antonio Canosa , Cristina Moglia , Andrea Calvo , Marco Barberis , Maura Brunetti , Hannah A. Pliner , Alan E. Renton , Mike A. Nalls , Bryan J. Traynor , Gabriella Restagno , Adriano Chiò Neurobiology of Aging Vol. 35/Issue 12 2882.e7-2882.e12 1-12-2014 10.1016/j.neurobiolaging.2014.07.012

168 Novel mutations support a role for Profilin 1 in the pathogenesis of ALS Bradley N. Smith , Caroline Vance , Emma L. Scotter , Claire Troakes , Chun Hao Wong , Simon Topp , Satomi Maekawa , Andrew King , Jacqueline C. Mitchell , Karan Lund , Ammar Al-Chalabi , Nicola Ticozzi , Vincenzo Silani , Peter Sapp , Robert H. Brown , John E. Landers , Safa Al-Sarraj , Christopher E. Shaw Neurobiology of Aging Vol. 36/Issue 3 1602.e17-1602.e27 1-3-2015 10.1016/j.neurobiolaging.2014.10.032

169 Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes Ashley R. Jones , Claire Troakes , Andrew King , Vibhu Sahni , Simone De Jong , Koen Bossers , Efterpi Papouli , Muddassar Mirza , Safa Al-Sarraj , Christopher E. Shaw , Pamela J. Shaw , Janine Kirby , Jan H. Veldink , Jeffrey D. Macklis , John F. Powell , Ammar Al-Chalabi Neurobiology of Aging Vol. 36/Issue 5 2006.e1-2006.e9 1-5-2015 10.1016/j.neurobiolaging.2015.02.017

170 ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry Giuseppe Borghero , Maura Pugliatti , Francesco Marrosu , Maria Giovanna Marrosu , Maria Rita Murru , Gianluca Floris , Antonino Cannas , Leslie D. Parish , Tea B. Cau , Daniela Loi , Anna Ticca , Sebastiano Traccis , Umberto Manera , Antonio Canosa , Cristina Moglia , Andrea Calvo , Marco Barberis , Maura Brunetti , Alan E. Renton , Mike A. Nalls , Bryan J. Traynor , Gabriella Restagno , Adriano Chiò Neurobiology of Aging Vol. 36/Issue 10 2906.e1-2906.e5 1-10-2015 10.1016/j.neurobiolaging.2015.06.013

171 HFE p.H63D polymorphism does not influence ALS phenotype and survival Adriano Chiò , Gabriele Mora , Mario Sabatelli , Claudia Caponnetto , Christian Lunetta , Bryan J. Traynor , Janel O. Johnson , Mike A. Nalls , Andrea Calvo , Cristina Moglia , Giuseppe Borghero , Maria Rosaria Monsurrò , Vincenzo La Bella , Paolo Volanti , Isabella Simone , Fabrizio Salvi , Francesco O. Logullo , Riva Nilo , Fabio Giannini , Jessica Mandrioli , Raffaella Tanel , Maria Rita Murru , Paola Mandich , Marcella Zollino , et al. Neurobiology of Aging Vol. 36/Issue 10 2906.e7-2906.e11 1-10-2015 10.1016/j.neurobiolaging.2015.06.016

172 Neuroimaging in amyotrophic lateral sclerosis: insights into structural and functional changes Adriano Chiò , Marco Pagani , Federica Agosta , Andrea Calvo , Angelina Cistaro , Massimo Filippi Lancet Neurology, The Vol. 13/Issue 12 1228-1240 1-12-2014 10.1016/S1474-4422(14)70167-X

173 Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study 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 Lancet Neurology, The Vol. 13/Issue 11 1108-1113 1-11-2014 10.1016/S1474-4422(14)70219-4

174 Biological interpretation of genome-wide association studies using predicted gene functions Tune H. Pers , Juha M. Karjalainen , Yingleong Chan , Harm-Jan Westra , Andrew R. Wood , Jian Yang , Julian C. Lui , Sailaja Vedantam , Stefan Gustafsson , Tonu Esko , Tim Frayling , Elizabeth K. Speliotes , Michael Boehnke , Soumya Raychaudhuri , Rudolf S. N. Fehrmann , Joel N. Hirschhorn , Lude Franke Nature Communications Vol. 6 5890 19-1-2015 10.1038/ncomms6890

175 Gene expression analysis identifies global gene dosage sensitivity in cancer Rudolf S N Fehrmann , Juha M Karjalainen , Małgorzata Krajewska , Harm-Jan Westra , David Maloney , Anton Simeonov , Tune H Pers , Joel N Hirschhorn , Ritsert C Jansen , Erik A Schultes , Herman H H B M van Haagen , Elisabeth G E de Vries , Gerard J te Meerman , Cisca Wijmenga , Marcel A T M van Vugt , Lude Franke Nature Genetics Vol. 47/Issue 2 115-125 12-1-2015 10.1038/ng.3173

176 Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis Janel O Johnson , Erik P Pioro , Ashley Boehringer , Ruth Chia , Howard Feit , Alan E Renton , Hannah A Pliner , Yevgeniya Abramzon , Giuseppe Marangi , Brett J Winborn , J Raphael Gibbs , Michael A Nalls , Sarah Morgan , Maryam Shoai , John Hardy , Alan Pittman , Richard W Orrell , Andrea Malaspina , Katie C Sidle , Pietro Fratta , Matthew B Harms , Robert H Baloh , Alan Pestronk , Conrad C Weihl , Ekaterina Rogaeva , Lorne Zinman , Vivian E Drory et al Nature Neuroscience Vol. 17/Issue 5 664-666 30-3-2014 10.1038/nn.3688

177 Motor neuron disease in 2014: Biomarkers for ALS—in search of the Promised Land Adriano Chiò , Bryan J. Traynor Nature Reviews Neurology Vol. 11/Issue 2 72-74 23-12-2014 10.1038/nrneurol.2014.250

178 Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis J. O. Johnson , S. M. Glynn , J. R. Gibbs , M. A. Nalls , M. Sabatelli , G. Restagno , V. E. Drory , A. Chio , E. Rogaeva , B. J. Traynor Brain; a journal of neurology Vol. 137/Issue 12 e311-e311 1-12-2014 10.1093/brain/awu265

179 Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis? W. van Rheenen , F. P. Diekstra , L. H. van den Berg , J. H. Veldink Brain; a journal of neurology Vol. 137/Issue 12 e313-e313 1-12-2014 10.1093/brain/awu299

180 Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways E. T. Cirulli , B. N. Lasseigne , S. Petrovski , P. C. Sapp , P. A. Dion , C. S. Leblond , J. Couthouis , Y.-F. Lu , Q. Wang , B. J. Krueger , Z. Ren , J. Keebler , Y. Han , S. E. Levy , B. E. Boone , J. R. Wimbish , L. L. Waite , A. L. Jones , J. P. Carulli , A. G. Day-Williams , J. F. Staropoli , W. W. Xin , A. Chesi , A. R. Raphael , D. McKenna-Yasek , J. Cady , J. M. B. Vianney de Jong , K. P. Kenna , B. N. Smith , S. Topp , J. Miller , A. Gkazi , A. Al-Chalabi , L. H. van den Berg , J. Veldink , et al. Science Vol. 347/Issue 6229 1436-1441 27-3-2015 10.1126/science.aaa3650

181 A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories C. Akimoto , A. E. Volk , M. van Blitterswijk , M. Van den Broeck , C. S. Leblond , S. Lumbroso , W. Camu , B. Neitzel , O. Onodera , W. van Rheenen , S. Pinto , M. Weber , B. Smith , M. Proven , K. Talbot , P. Keagle , A. Chesi , A. Ratti , J. van der Zee , H. Alstermark , A. Birve , D. Calini , A. Nordin , D. C. Tradowsky , W. Just , et al. Journal of Medical Genetics Vol. 51/Issue 6 419-424 1-6-2014 10.1136/jmedgenet-2014-102360

182 Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy A. Montuschi , B. Iazzolino , A. Calvo , C. Moglia , L. Lopiano , G. Restagno , M. Brunetti , I. Ossola , A. Lo Presti , S. Cammarosano , A. Canosa , A. Chio Journal of Neurology, Neurosurgery and Psychiatry Vol. 86/Issue 2 168-173 1-2-2015 10.1136/jnnp-2013-307223

183 A multidisciplinary clinic approach improves survival in ALS: a comparative study of ALS in Ireland and Northern Ireland James Rooney , Susan Byrne , Mark Heverin , Katy Tobin , Alison Dick , Colette Donaghy , Orla Hardiman Journal of Neurology, Neurosurgery and Psychiatry Vol. 86/Issue 5 496-501 1-5-2015 10.1136/jnnp-2014-309601

184 Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels Patrick Deelen , Daria V Zhernakova , Mark de Haan , Marijke van der Sijde , Marc Jan Bonder , Juha Karjalainen , K Joeri van der Velde , Kristin M Abbott , Jingyuan Fu , Cisca Wijmenga , Richard J Sinke , Morris A Swertz , Lude Franke Genome Medicine Vol. 7/Issue 1 jan-13 1-12-2015 10.1186/s13073-015-0152-4

185 Functional pattern of brain FDG-PET in amyotrophic lateral sclerosis M. Pagani , A. Chio , M. C. Valentini , J. Oberg , F. Nobili , A. Calvo , C. Moglia , D. Bertuzzo , S. Morbelli , F. De Carli , P. Fania , A. Cistaro Neurology Vol. 83/Issue 12 1067-1074 16-9-2014 10.1212/WNL.0000000000000792

186 ATXN2 polyQ intermediate repeats are a modifier of ALS survival A. Chio , A. Calvo , C. Moglia , A. Canosa , M. Brunetti , M. Barberis , G. Restagno , A. Conte , G. Bisogni , G. Marangi , A. Moncada , S. Lattante , M. Zollino , M. Sabatelli , A. Bagarotti , L. Corrado , G. Mora , E. Bersano , L. Mazzini , S. D'Alfonso Neurology Vol. 84/Issue 3 251-258 20-1-2015 10.1212/WNL.0000000000001159

187 Spatial cluster analysis of population amyotrophic lateral sclerosis risk in Ireland J. Rooney , A. Vajda , M. Heverin , M. Elamin , A. Crampsie , R. McLaughlin , A. Staines , O. Hardiman Neurology Vol. 84/Issue 15 1537-1544 14-4-2015 10.1212/WNL.0000000000001477

188 ALS mutant FUS proteins are recruited into stress granules in induced pluripotent stem cell-derived motoneurons J. Lenzi , R. De Santis , V. de Turris , M. Morlando , P. Laneve , A. Calvo , V. Caliendo , A. Chio , A. Rosa , I. Bozzoni DMM Disease Models and Mechanisms Vol. 8/Issue 7 755-766 1-7-2015 10.1242/dmm.020099

189 Cell Specific eQTL Analysis without Sorting Cells Harm-Jan Westra , Danny Arends , Tõnu Esko , Marjolein J. Peters , Claudia Schurmann , Katharina Schramm , Johannes Kettunen , Hanieh Yaghootkar , Benjamin P. Fairfax , Anand Kumar Andiappan , Yang Li , Jingyuan Fu , Juha Karjalainen , Mathieu Platteel , Marijn Visschedijk , Rinse K. Weersma , Silva Kasela , Lili Milani , et al. PLoS Genetics Vol. 11/Issue 5 e1005223 8-5-2015 10.1371/journal.pgen.1005223

190 An Exploratory Spatial Analysis of ALS Incidence in Ireland over 17.5 Years (1995 – July 2013) James Rooney , Mark Heverin , Alice Vajda , Arlene Crampsie , Katy Tobin , Susan Byrne , Anthony Staines , Orla Hardiman PLoS One Vol. 9/Issue 5 e96556 27-5-2014 10.1371/journal.pone.0096556

191 Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art Matthew J. Walsh , Johnathan Cooper-Knock , Jennifer E. Dodd , Matthew J. Stopford , Simeon R. Mihaylov , Janine Kirby , Pamela J. Shaw , Guillaume M. Hautbergue Neuropathology and Applied Neurobiology Vol. 41/Issue 2 109-134 1-2-2015 10.1111/nan.12187

192 A metabolic switch toward lipid use in glycolytic muscle is an early pathologic event in a mouse model of amyotrophic lateral sclerosis L. Palamiuc , A. Schlagowski , S. T. Ngo , A. Vernay , S. Dirrig-Grosch , A. Henriques , A.-L. Boutillier , J. Zoll , A. Echaniz-Laguna , J.-P. Loeffler , F. Rene EMBO Molecular Medicine Vol. 7/Issue 5 526-546 1-5-2015 10.15252/emmm.201404433

193 A plural role for lipids in motor neuron diseases: energy, signaling and structure Florent Schmitt , Ghulam Hussain , Luc Dupuis , Jean-Philippe Loeffler , Alexandre Henriques Frontiers in Cellular Neuroscience Vol. 8 jan-13 1-1-2014 10.3389/fncel.2014.00025

194 Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy Johnathan Cooper-Knock , Adrian Higginbottom , Matthew J. Stopford , J. Robin Highley , Paul G. Ince , Stephen B. Wharton , Stuart Pickering-Brown , Janine Kirby , Guillaume M. Hautbergue , Pamela J. Shaw Acta Neuropathologica Vol. 130/Issue 1 63-75 1-7-2015 10.1007/s00401-015-1429-9

195 Blood Cell Palmitoleate-Palmitate Ratio Is an Independent Prognostic Factor for Amyotrophic Lateral Sclerosis Alexandre Henriques , Hélène Blasco , Marie-Céline Fleury , Philippe Corcia , Andoni Echaniz-Laguna , Laura Robelin , Gabrielle Rudolf , Thiebault Lequeu , Martine Bergaentzle , Christian Gachet , Pierre-François Pradat , Eric Marchioni , Christian R. Andres , Christine Tranchant , Jose-Luis Gonzalez De Aguilar , Jean-Philippe Loeffler PLoS One Vol. 10/Issue 7 e0131512 6-7-2015 10.1371/journal.pone.0131512

196 C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis Johnathan Cooper-Knock , Joanna J. Bury , Paul R Heath , Matthew Wyles , Adrian Higginbottom , Catherine Gelsthorpe , J. Robin Highley , Guillaume Hautbergue , Magnus Rattray , Janine Kirby , Pamela J. Shaw PLoS One Vol. 10/Issue 5 e0127376 27-5-2015 10.1371/journal.pone.0127376

197 C-kit is important for SOD1G93A mouse survival independent of mast cells K.A. Staats , S. Schönefeldt , L. Van Helleputte , M. Van Rillaer , Y. Lampi , J. Dooley , L. Van Den Bosch , A. Liston Neuroscience Vol. 301 415-420 1-8-2015 10.1016/j.neuroscience.2015.06.026

198 Comment: The environmental and genetic impact of spatial cluster analysis in ALS J. H. Veldink Neurology Vol. 84/Issue 15 1543-1543 14-4-2015 10.1212/WNL.0000000000001481

199 Comparative Magnetic Resonance Imaging and Histopathological Correlates in Two SOD1 Transgenic Mouse Models of Amyotrophic Lateral Sclerosis Ilaria Caron , Edoardo Micotti , Alessandra Paladini , Giuseppe Merlino , Laura Plebani , Gianluigi Forloni , Michel Modo , Caterina Bendotti PLoS One Vol. 10/Issue 7 e0132159 1-7-2015 10.1371/journal.pone.0132159

200 Developments in treatments for amyotrophic lateral sclerosis via intracerebroventricular or intrathecal delivery Philip Van Damme , Wim Robberecht Expert Opinion on Investigational Drugs Vol. 23/Issue 7 955-963 1-7-2014 10.1517/13543784.2014.912275

201 Differences in protein quality control correlate with phenotype variability in 2 mouse models of familial amyotrophic lateral sclerosis Marianna Marino , Simonetta Papa , Valeria Crippa , Giovanni Nardo , Marco Peviani , Cristina Cheroni , Maria Chiara Trolese , Eliana Lauranzano , Valentina Bonetto , Angelo Poletti , Silvia DeBiasi , Laura Ferraiuolo , Pamela J. Shaw , Caterina Bendotti Neurobiology of Aging Vol. 36/Issue 1 492-504 1-1-2015 10.1016/j.neurobiolaging.2014.06.026

202 Gene expression changes in spinal motoneurons of the SOD1G93A transgenic model for ALS after treatment with G-CSF Alexandre Henriques , Stefan Kastner , Eva Chatzikonstantinou , Claudia Pitzer , Christian Plaas , Friederike Kirsch , Oliver Wafzig , Carola Krüger , Robert Spoelgen , Jose-Luis Gonzalez De Aguilar , Norbert Gretz , Armin Schneider Frontiers in Cellular Neuroscience Vol. 8 jan-13 20-1-2015 10.3389/fncel.2014.00464

203 Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art Matthew J. Walsh , Johnathan Cooper-Knock , Jennifer E. Dodd , Matthew J. Stopford , Simeon R. Mihaylov , Janine Kirby , Pamela J. Shaw , Guillaume M. Hautbergue Neuropathology and Applied Neurobiology Vol. 41/Issue 2 109-134 1-2-2015 10.1111/nan.12187

204 Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS Ana Jovičić , Jerome Mertens , Steven Boeynaems , Elke Bogaert , Noori Chai , Shizuka B Yamada , Joseph W Paul , Shuying Sun , Joseph R Herdy , Gregor Bieri , Nicholas J Kramer , Fred H Gage , Ludo Van Den Bosch , Wim Robberecht , Aaron D Gitler Nature Neuroscience Vol. 18/Issue 9 1226-1229 26-8-2015 10.1038/nn.4085

205 NKCC1 downregulation induces hyperpolarizing shift of GABA responsiveness at near term fetal stages in rat cultured dorsal root ganglion neurons Joelle N Chabwine , Karel Talavera , Ludo Van Den Bosch , Geert Callewaert BMC Neuroscience Vol. 16/Issue 1 jan-13 1-12-2015 10.1186/s12868-015-0180-4

206 Prevention of intestinal obstruction reveals progressive neurodegeneration in mutant TDP-43 (A315T) mice Sarah Herdewyn , Carla Cirillo , Ludo Van Den Bosch , Wim Robberecht , Pieter Vanden Berghe , Philip Van Damme Molecular Neurodegeneration Vol. 9/Issue 1 24 1-1-2014 10.1186/1750-1326-9-24

207 The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis Johnathan Cooper-Knock , Janine Kirby , Robin Highley , Pamela J. Shaw Neurotherapeutics Vol. 12/Issue 2 326-339 1-4-2015 10.1007/s13311-015-0342-1

208 Translating biological findings into new treatment strategies for amyotrophic lateral sclerosis (ALS) Lindsay Poppe , Laura Rué , Wim Robberecht , Ludo Van Den Bosch Experimental Neurology Vol. 262 138-151 1-12-2014 10.1016/j.expneurol.2014.07.001

209 Prior medical conditions and the risk of amyotrophic lateral sclerosis Meinie Seelen , Perry T. C. van Doormaal , Anne E. Visser , Mark H. B. Huisman , Margot H. J. Roozekrans , Sonja W. de Jong , Anneke J. van der Kooi , Marianne de Visser , Nicol C. Voermans , Jan H. Veldink , Leonard H. van den Berg Journal of Neurology Vol. 261/Issue 10 1949-1956 1-10-2014 10.1007/s00415-014-7445-1

210 Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients Bruneteau G, Bauche S, Gonzalez de Aguilar JL, Brochier G, Mandjee N, Tanguy ML, Hussain G, Behin A, Khiami F, Sariali E, Hell-Remy C, Salachas F, Pradat PF, Lacomblez L, Nicole S, Fontaine B, Fardeau M, Loeffler JP, Meininger V, Fournier E, Koenig J, Hantai D  . Ann Clin Transl Neurol;2:362-72. ,(2015) 10.1002/acn3.179

211 Metabolomic Analysis Reveals Increased Aerobic Glycolysis and Amino Acid Deficit in a Cellular Model of Amyotrophic Lateral Sclerosis Valbuena GN, Rizzardini M, Cimini S, Siskos AP, Bendotti C, Cantoni L, Keun HC, Mol Neurobiol 2015, Epub ahead of print

212 The role of oligodendroglial dysfunction in amyotrophic lateral sclerosis Nonneman, A., Robberecht, W. & Van Den Bosch, L., Neurodegenerative disease management, 4, 223-239 2014 10.2217/nmt.14.21

213 Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions Highley JR, Lorente Pons A, Cooper-Knock J, Wharton SB, Ince PG, Shaw PJ, Wood J, Kirby J, Neuropathol Appl Neurobiol. (2015) ahead of print 10.1111/nan.12254