Publications

Publications Euro-MOTOR Consortium

  [1]   Abel O, Powell JF, Andersen PM, Al-Chalabi A. ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum Mutat 2012;33(9):1345-51.

  [2]   Al-Chalabi A, Lewis CM. Modelling the effects of penetrance and family size on rates of sporadic and familial disease. Hum Hered 2011;71(4):281-8.

  [3]   Al-Chalabi A, Jones A, Troakes C, King A, Al-Sarraj S, van den Berg LH. The genetics and neuropathology of amyotrophic lateral sclerosis. Acta Neuropathol 2012;124(3):339-52.

  [4]   Bendotti C, Marino M, Cheroni C, Fontana E, Crippa V, Poletti A, De Biasi S. Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: Implication for protein aggregation and immune response. Prog Neurobiol 2011;97(2):101-26.

  [5]   Blauw HM, van Rheenen W., Koppers M, Van Damme P., Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, Cuppen E, Pasterkamp RJ, Robberecht W, Ludolph AC, Veldink JH, van den Berg LH. NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Hum Mol Genet 2012;21(11):2497-502.

  [6]   Bryson JB, Hobbs C, Parsons MJ, Bosch KD, Pandraud A, Walsh FS, Doherty P, Greensmith L. Amyloid precursor protein (APP) contributes to pathology in the SOD1G93A mouse model of amyotrophic lateral sclerosis. Hum Mol Genet 2012.

  [7]   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 Neurol 2012;11(3):232-40.

  [8]   Calvo A, Ilardi A, Moglia C, Canosa A, Carrara G, Valentini C, Ossola I, Brunetti M, Restagno G, Chio A. An ALS case with a novel D90N-SOD1 heterozygous missense mutation. Amyotroph Lateral Scler 2012;13(4):393-5.

  [9]   Capitanio D, Vasso M, Ratti A, Grignaschi G, Volta M, Moriggi M, Daleno C, Bendotti C, Silani V, Gelfi C. Molecular signatures of ALS disease progression in hind and forelimb muscles of a SOD1G93A mouse model. Antioxid Redox Signal 2012.

[10]   Carrara G, Carapelli C, Venturi F, Ferraris MM, Lequio L, Chio A, Calvo A, Sirgiovanni S, Cistaro A, Valentini MC. 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. AJNR Am J Neuroradiol 2012;33(4):733-9.

[11]   Chio A, Traynor BJ. Identifying potential risk factors for developing amyotrophic latera sclerosis. Neurodegener Dis2011(1(6)):463-71.

[12]   Chio A, Calvo A, Moglia C, Gamna F, Mattei A, Mazzini L, Mora G. Non-invasive ventilation in amyotrophic lateral sclerosis: a 10 year population based study. J Neurol Neurosurg Psychiatry 2011;83(4):377-81.

[13]   Chio A, Canosa A, Gallo S, Cammarosano S, Moglia C, Fuda G, Calvo A, Mora G. ALS clinical trials: do enrolled patients accurately represent the ALS population? Neurology 2011;77(15):1432-7.

[14]   Chio A, Restagno G, Brunetti M, Ossola I, Calvo A, Canosa A, Moglia C, Floris G, Tacconi P, Marrosu F, Marrosu MG, Murru MR, Majounie E, Renton AE, Abramzon Y, Pugliatti M, Sotgiu MA, Traynor BJ, Borghero G. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations. J Neurol Neurosurg Psychiatry 2012;83(7):730-3.

[15]   Chio A, Ilardi A, Cammarosano S, Moglia C, Montuschi A, Calvo A. Neurobehavioral dysfunction in ALS has a negative effect on outcome and use of PEG and NIV. Neurology 2012;78(14):1085-9.

[16]   Chio A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG, Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P, La B, V, Spataro R, Conte A, Monsurro MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Lauria PG, Simone I, Logroscino G, Gambardella A, Quattrone A, Lunetta C, Volanti P, Zollino M, Penco S, Battistini S, Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 2012;135(Pt 3):784-93.

[17]   Chio A, Canosa A, Gallo S, Moglia C, Ilardi A, Cammarosano S, Papurello D, Calvo A. Pain in amyotrophic lateral sclerosis: a population-based controlled study. Eur J Neurol 2012;19(4):551-5.

[18]   Cistaro A, Valentini MC, Chio A, Nobili F, Calvo A, Moglia C, Montuschi A, Morbelli S, Salmaso D, Fania P, Carrara G, Pagani M. Brain hypermetabolism in amyotrophic lateral sclerosis: a FDG PET study in ALS of spinal and bulbar onset. Eur J Nucl Med Mol Imaging 2012;39(2):251-9.

[19]   Cooper-Knock J, Bury J, Ferraiuolo L, Goodall E, Shaw P, Kirby J. Insights Arising from Gene Expression Profiling in Amyotrophic Lateral Sclerosis. Amyotrophic Lateral SclerosisChapter 2:41-58.

[20]   Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 2012;135(Pt 3):751-64.

[21]   Cooper-Knock J, Kirby J, Ferraiuolo L, Heath PR, Rattray M, Shaw PJ. Gene expression profiling in human neurodegenerative disease. Nat Rev Neurol 2012.

[22]   d'Ydewalle C, Benoy V, Van den Bosch L. Charcot-Marie-Tooth disease: Emerging mechanisms and therapies. Int J Biochem Cell Biol44(8):1299-304.

[23]   d'Ydewalle C, Krishnan J, Chiheb DM, Van Damme P., Irobi J, Kozikowski AP, Vanden Berghe P., Timmerman V, Robberecht W, Van den Bosch L. HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease. Nat Med 2011;17(8):968-74.

[24]   d'Ydewalle C, Bogaert E, Van den Bosch L. HDAC6 at the Intersection of Neuroprotection and Neurodegeneration. Traffic 2012;13(6):771-9.

[25]   de Jong SW, Huisman MH, Sutedja NA, van der Kooi AJ, de VM, Schelhaas HJ, Fischer K, Veldink JH, van den Berg LH. Smoking, Alcohol Consumption, and the Risk of Amyotrophic Lateral Sclerosis: A Population-based Study. Am J Epidemiol 2012;176(3):233-9.

[26]   Diekstra FP, van Vught PW, van Rheenen W, Koppers M, Pasterkamp RJ, van Es MA, Schelhaas HJ, de Visser M., Robberecht W, Van Damme P., Andersen PM, van den Berg LH, Veldink JH. UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiol Aging 2011;33(3):630-8.

[27]   Diekstra FP, Saris CG, van Rheenen W., Franke L, Jansen RC, van Es MA, van Vught PW, Blauw HM, Groen EJ, Horvath S, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Robberecht W, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH, Jr., Shatunov A, Shaw CE, Leigh PN, Al-Chalabi A, Ophoff RA, van den Berg LH, Veldink JH. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS One 2012;7(4):e35333.

[28]   Fang F, Chen H, Wirdefeldt K, Ronnevi LO, Al-Chalabi A, Peters TL, Kamel F, Ye W. Infection of the central nervous system, sepsis and amyotrophic lateral sclerosis. PLoS One 2011;6(12):e29749.

[29]   Fehrmann RS, Jansen RC, Veldink JH, Westra HJ, Arends D, Bonder MJ, Fu J, Deelen P, Groen HJ, Smolonska A, Weersma RK, Hofstra RM, Buurman WA, Rensen S, Wolfs MG, Platteel M, Zhernakova A, Elbers CC, Festen EM, Trynka G, Hofker MH, Saris CG, Ophoff RA, van den Berg LH, van Heel DA, Wijmenga C, Te Meerman GJ, Franke L. Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. PLoS Genet 2011;7(8):e1002197.

[30]   Ferraiuolo L, Kirby J, Grierson AJ, Sendtner M, Shaw PJ. Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis. Nat Rev Neurol 2011;7(11):616-30.

[31]   Fu J, Wolfs MG, Deelen P, Westra HJ, Fehrmann RS, Te Meerman GJ, Buurman WA, Rensen SS, Groen HJ, Weersma RK, van den Berg LH, Veldink J, Ophoff RA, Snieder H, van Heel D., Jansen RC, Hofker MH, Wijmenga C, Franke L. Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression. PLoS Genet 2012;8(1):e1002431.

[32]   Geser F, Prvulovic D, O'Dwyer L, Hardiman O, Bede P, Bokde AL, Trojanowski JQ, Hampel H. On the development of markers for pathological TDP-43 in amyotrophic lateral sclerosis with and without dementia. Prog Neurobiol 2011;95(4):649-62.

[33]   Goodall E, Bury J, Cooper-Knock J, Shaw P, Kirby J. Genetics of Familial Amyotrophic Lateral Sclerosis. Amyotrophic Lateral SclerosisChapter 22:517-36.

[34]   Groen EJ, van Rheenen W., Koppers M, van Doormaal PT, Vlam L, Diekstra FP, Dooijes D, Pasterkamp RJ, van den Berg LH, Veldink JH. CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. Neurobiol Aging 2012;33(8):1852-3.

[35]   Hanby MF, Scott KM, Scotton W, Wijesekera L, Mole T, Ellis CE, Nigel LP, Shaw CE, Al-Chalabi A. The risk to relatives of patients with sporadic amyotrophic lateral sclerosis. Brain 2011;134(Pt 12):3451-4.

[36]   Hardiman O, van den Berg LH, Kiernan MC. Clinical diagnosis and management of amyotrophic lateral sclerosis. Nat Rev Neurol 2011;7(11):639-49.

[37]   Henriques A, Gonzalez de Aguilar JL. Can Transcriptomics Cut the Gordian Knot of Amyotrophic Lateral Sclerosis. Current Genomics 2012;12(7):506-15.

[38]   Henriques A, Gonzalez de Aguilar JL. Can transcriptomics cut the gordian knot of amyotrophic lateral sclerosis? Curr Genomics 2011;12(7):506-15.

[39]   Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P. 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. Hum Mol Genet 2012;21(11):2412-9.

[40]   Huisman MH, de Jong SW, Verwijs MC, Schelhaas HJ, van der Kooi AJ, de Visser M., Veldink JH, van den Berg LH. Family history of neurodegenerative and vascular diseases in ALS: a population-based study. Neurology 2011;77(14):1363-9.

[41]   Huisman MH, de Jong SW, van Doormaal PT, Weinreich SS, Schelhaas HJ, van der Kooi AJ, de Visser M., Veldink JH, van den Berg LH. Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology. J Neurol Neurosurg Psychiatry 2011;82(10):1165-70.

[42]   Johnson L, Miller JW, Gkazi AS, Vance C, Topp SD, Newhouse SJ, Al-Chalabi A, Smith BN, Shaw CE. Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients. Neurobiol Aging 2012.

[43]   Koppers M, van Es MA, van den Berg LH, Veldink J, Pasterkamp RJ. Genetics of Amyotrophic Lateral Sclerosis. Amyotrophic Lateral SclerosisChapter 21:479-516.

[44]   Koppers M, van Blitterswijk MM, Vlam L, Rowicka PA, van Vught PW, Groen EJ, Spliet WG, Engelen-Lee J, Schelhaas HJ, de Visser M., van der Kooi AJ, van der Pol WL, Pasterkamp RJ, Veldink JH, van den Berg LH. VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2011;33(4):837-13.

[45]   Kuh GF, Stockmann M, Meyer-Ohlendorf M, Linta L, Proepper C, Ludolph AC, Bockmann J, Boeckers TM, Liebau S. Tubulin-binding cofactor B is a direct interaction partner of the dynactin subunit p150(Glued). Cell Tissue Res 2012.

[46]   Lill CM, Abel O, Bertram L, Al-Chalabi A. Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases. Amyotroph Lateral Scler 2011;12(4):238-49.

[47]   Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chio A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van D, V, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le B, I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012;11(4):323-30.

[48]   Miller JW, Smith BN, Topp SD, Al-Chalabi A, Shaw CE, Vance C. Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging 2012;33(11):2721-2.

[49]   Miskiewicz K, Jose LE, to-Abreu A, Fislage M, Taes I, Kasprowicz J, Swerts J, Sigrist S, Versees W, Robberecht W, Verstreken P. ELP3 Controls Active Zone Morphology by Acetylating the ELKS Family Member Bruchpilot. Neuron 2011;72(5):776-88.

[50]   Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chio A, Shatunov A, Boeve BF, Boxer AL, Jesus-Hernandez M, Mackenzie IR, Waite A, Williams N, Morris HR, Simon-Sanchez J, van Swieten JC, Heutink P, Restagno G, Mora G, Morrison KE, Shaw PJ, Rollinson PS, Al-Chalabi A, Rademakers R, Pickering-Brown S, Orrell RW, Nalls MA, Hardy J. The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging 2012;33(1):209-8.

[51]   Nardo G, Pozzi S, Pignataro M, Lauranzano E, Spano G, Garbelli S, Mantovani S, Marinou K, Papetti L, Monteforte M, Torri V, Paris L, Bazzoni G, Lunetta C, Corbo M, Mora G, Bendotti C, Bonetto V. Amyotrophic lateral sclerosis multiprotein biomarkers in peripheral blood mononuclear cells. PLoS One 2011;6(10):e25545.

[52]   Pedroso I, Lourdusamy A, Rietschel M, Nothen MM, Cichon S, McGuffin P, Al-Chalabi A, Barnes MR, Breen G. Common genetic variants and gene-expression changes associated with bipolar disorder are over-represented in brain signaling pathway genes. Biol Psychiatry 2012;72(4):311-7.

[53]   Philips T, Robberecht W. Neuroinflammation in amyotrophic lateral sclerosis: role of glial activation in motor neuron disease. Lancet Neurol 2011;10(3):253-63.

[54]   Phukan J, Elamin M, Bede P, Jordan N, Gallagher L, Byrne S, Lynch C, Pender N, Hardiman O. The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study. J Neurol Neurosurg Psychiatry 2012;83(1):102-8.

[55]   Pradat PF, Dubourg O, de Tapia M., di Scala F., Dupuis L, Lenglet T, Bruneteau G, Salachas F, Lacomblez L, Corvol JC, Demougin P, Primig M, Meininger V, Loeffler JP, Gonzalez de Aguilar JL. Muscle gene expression is a marker of amyotrophic lateral sclerosis severity. Neurodegener Dis 2012;9(1):38-52.

[56]   Pupillo E, Messina P, Logroscino G, Zoccolella S, Chio A, Calvo A, Corbo M, Lunetta C, Micheli A, Millul A, Vitelli E, Beghi E. Trauma and amyotrophic lateral sclerosis: a case-control study from a population-based registry. Eur J Neurol 2012.

[57]   Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72(2):257-68.

[58]   Roche JC, Rojas-Garcia R, Scott KM, Scotton W, Ellis CE, Burman R, Wijesekera L, Turner MR, Leigh PN, Shaw CE, Al-Chalabi A. A proposed staging system for amyotrophic lateral sclerosis. Brain 2012;135(Pt 3):847-52.

[59]   Rojas-Garcia R, Scott KM, Roche JC, Scotton W, Martin N, Janssen A, Goldstein LH, Nigel Leigh P., Ellis CM, Shaw CE, Al-Chalabi A. No evidence for a large difference in ALS frequency in populations of African and European origin: A population based study in inner city London. Amyotroph Lateral Scler 2012;13(1):66-8.

[60]   Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurro MR, Volanti P, Marinou K, Salvi F, Corbo M, Giannini F, Battistini S, Penco S, Lunetta C, Quattrone A, Gambardella A, Logroscino G, Simone I, Bartolomei I, Pisano F, Tedeschi G, Conte A, Spataro R, La B, V, Caponnetto C, Mancardi G, Mandich P, Sola P, Mandrioli J, Renton AE, Majounie E, Abramzon Y, Marrosu F, Marrosu MG, Murru MR, Sotgiu MA, Pugliatti M, Rodolico C, Moglia C, Calvo A, Ossola I, Brunetti M, Traynor BJ, Borghero G, Restagno G, Chio A. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging 2012;33(8):1848-20.

[61]   Schrooten M, Smetcoren C, Robberecht W, Van Damme P. Benefit of the Awaji diagnostic algorithm for amyotrophic lateral sclerosis: a prospective study. Ann Neurol 2011;70(1):79-83.

[62]   Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobagyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den BL, Veldink J, Van DP, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de BJ, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH, Jr., Weale ME, Al-Chalabi A, Shaw CE. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet 2012.

[63]   van Blitterswijk M., van Es MA, Hennekam EA, Dooijes D, van Rheenen W., Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M., de Bakker PI, Veldink JH, van den Berg LH. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet 2012.

[64]   van Blitterswijk M., Blokhuis A, van Es MA, van Vught PW, Rowicka PA, Schelhaas HJ, van der Kooi AJ, de Visser M., Veldink JH, van den Berg LH. Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients. Neurobiol Aging 2012.

[65]   van Blitterswijk M., van Es MA, Koppers M, van Rheenen W., Medic J, Schelhaas HJ, van der Kooi AJ, de VM, Veldink JH, van den Berg LH. VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient. Neurobiol Aging 2012.

[66]   van Damme P, Veldink JH, van Blitterswijk M., Corveleyn A, van Vught PW, Thijs V, Dubois B, Matthijs G, van den Berg LH, Robberecht W. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 2011;76(24):2066-72.

[67]   van Doormaal P.T., van Rheenen W., van Blitterswijk M., Schellevis RD, Schelhaas HJ, de Visser M., van der Kooi AJ, Veldink JH, van den Berg LH. UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands. Neurobiol Aging 2012.

[68]   Van Hoecke A., Schoonaert L, Lemmens R, Timmers M, Staats KA, Laird AS, Peeters E, Philips T, Goris A, Dubois B, Andersen PM, Al-Chalabi A, Thijs V, Turnley AM, van Vught PW, Veldink JH, Hardiman O, Van den Bosch L., Gonzalez-Perez P, Van Damme P., Brown RH, Jr., van den Berg LH, Robberecht W. EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med.

[69]   van Rheenen W., van Blitterswijk M., Huisman MH, Vlam L, van Doormaal PT, Seelen M, Medic J, Dooijes D, de Visser M., van der Kooi AJ, Raaphorst J, Schelhaas HJ, van der Pol WL, Veldink JH, van den Berg LH. Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology 2012;79(9):878-82.

[70]   Westra HJ, Jansen RC, Fehrmann RS, Te Meerman GJ, van Heel D., Wijmenga C, Franke L. MixupMapper: correcting sample mix-ups in genome-wide datasets increases power to detect small genetic effects. Bioinformatics 2011;27(15):2104-11.