A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations.
Frontiers In Aging Neuroscience
Allen, Scott P SP; Al Sultan, Afnan A; Kabucho Kibirige, Elaine E; Tonkiss, Erin E; Hamer, Keaton J KJ; Castelli, Lydia M LM; Lin, Ya-Hui YH; Roscoe, Sarah S; Stefanidis, Nikolaos N; Mead, Richard J RJ; Highley, J Robin JR; Cooper-Knock, Johnathan J; Hautbergue, Guillaume M GM; Heath, Paul R PR; Kirby, Janine J; Shaw, Pamela J PJ
Biofluid Biomarkers in the Prognosis of Amyotrophic Lateral Sclerosis: Recent Developments and Therapeutic Applications.
Cells
Sanchez-Tejerina, Daniel D; Llaurado, Arnau A; Sotoca, Javier J; Lopez-Diego, Veronica V; Vidal Taboada, Jose M JM; Salvado, Maria M; Juntas-Morales, Raul R
TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A.
Plos Biology
Koike, Yuka Y; Pickles, Sarah S; Estades Ayuso, Virginia V; Jansen-West, Karen K; Qi, Yue A YA; Li, Ziyi Z; Daughrity, Lillian M LM; Yue, Mei M; Zhang, Yong-Jie YJ; Cook, Casey N CN; Dickson, Dennis W DW; Ward, Michael M; Petrucelli, Leonard L; Prudencio, Mercedes M
Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Nature Communications
Megat, Salim S; Mora, Natalia N; Sanogo, Jason J; Roman, Olga O; Catanese, Alberto A; Alami, Najwa Ouali NO; Freischmidt, Axel A; Mingaj, Xhuljana X; De Calbiac, Hortense H; Muratet, François F; Dirrig-Grosch, Sylvie S; Dieterle, Stéphane S; Van Bakel, Nick N; Müller, Kathrin K; Sieverding, Kirsten K; Weishaupt, Jochen J; Andersen, Peter Munch PM; Weber, Markus M; Neuwirth, Christoph C; Margelisch, Markus M; Sommacal, Andreas A; Van Eijk, Kristel R KR; Veldink, Jan H JH; , ; Lautrette, Géraldine G; Couratier, Philippe P; Camuzat, Agnès A; Le Ber, Isabelle I; Grassano, Maurizio M; Chio, Adriano A; Boeckers, Tobias T; Ludolph, Albert C AC; Roselli, Francesco F; Yilmazer-Hanke, Deniz D; Millecamps, Stéphanie S; Kabashi, Edor E; Storkebaum, Erik E; Sellier, Chantal C; Dupuis, Luc L
Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial.
Trials
Willemse, Sean W SW; Roes, Kit C B KCB; Van Damme, Philip P; Hardiman, Orla O; Ingre, Caroline C; Povedano, Monica M; Wray, Naomi R NR; Gijzen, Marleen M; de Pagter, Mirjam S MS; Demaegd, Koen C KC; Janse, Annemarie F C AFC; Vink, Roel G RG; Sleutjes, Boudewijn T H M BTHM; Chiò, Adriano A; Corcia, Philippe P; Reviers, Evy E; Al-Chalabi, Ammar A; Kiernan, Matthew C MC; van den Berg, Leonard H LH; van Es, Michael A MA; van Eijk, Ruben P A RPA
MRI Clustering Reveals Three ALS Subtypes With Unique Neurodegeneration Patterns.
Annals Of Neurology
Tan, Harold H G HHG; Westeneng, Henk-Jan HJ; Nitert, Abram D AD; van Veenhuijzen, Kevin K; Meier, Jil M JM; van der Burgh, Hannelore K HK; van Zandvoort, Martine J E MJE; van Es, Michael A MA; Veldink, Jan H JH; van den Berg, Leonard H LH
Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.
Nature
Ma, X Rosa XR; Prudencio, Mercedes M; Koike, Yuka Y; Vatsavayai, Sarat C SC; Kim, Garam G; Harbinski, Fred F; Briner, Adam A; Rodriguez, Caitlin M CM; Guo, Caiwei C; Akiyama, Tetsuya T; Schmidt, H Broder HB; Cummings, Beryl B BB; Wyatt, David W DW; Kurylo, Katherine K; Miller, Georgiana G; Mekhoubad, Shila S; Sallee, Nathan N; Mekonnen, Gemechu G; Ganser, Laura L; Rubien, Jack D JD; Jansen-West, Karen K; Cook, Casey N CN; Pickles, Sarah S; Oskarsson, Björn B; Graff-Radford, Neill R NR; Boeve, Bradley F BF; Knopman, David S DS; Petersen, Ronald C RC; Dickson, Dennis W DW; Shorter, James J; Myong, Sua S; Green, Eric M EM; Seeley, William W WW; Petrucelli, Leonard L; Gitler, Aaron D AD
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.
Genome Medicine
Restuadi, Restuadi R; Steyn, Frederik J FJ; Kabashi, Edor E; Ngo, Shyuan T ST; Cheng, Fei-Fei FF; Nabais, Marta F MF; Thompson, Mike J MJ; Qi, Ting T; Wu, Yang Y; Henders, Anjali K AK; Wallace, Leanne L; Bye, Chris R CR; Turner, Bradley J BJ; Ziser, Laura L; Mathers, Susan S; McCombe, Pamela A PA; Needham, Merrilee M; Schultz, David D; Kiernan, Matthew C MC; van Rheenen, Wouter W; van den Berg, Leonard H LH; Veldink, Jan H JH; Ophoff, Roel R; Gusev, Alexander A; Zaitlen, Noah N; McRae, Allan F AF; Henderson, Robert D RD; Wray, Naomi R NR; Giacomotto, Jean J; Garton, Fleur C FC
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.
Genome Medicine
Restuadi, Restuadi R; Steyn, Frederik J FJ; Kabashi, Edor E; Ngo, Shyuan T ST; Cheng, Fei-Fei FF; Nabais, Marta F MF; Thompson, Mike J MJ; Qi, Ting T; Wu, Yang Y; Henders, Anjali K AK; Wallace, Leanne L; Bye, Chris R CR; Turner, Bradley J BJ; Ziser, Laura L; Mathers, Susan S; McCombe, Pamela A PA; Needham, Merrilee M; Schultz, David D; Kiernan, Matthew C MC; van Rheenen, Wouter W; van den Berg, Leonard H LH; Veldink, Jan H JH; Ophoff, Roel R; Gusev, Alexander A; Zaitlen, Noah N; McRae, Allan F AF; Henderson, Robert D RD; Wray, Naomi R NR; Giacomotto, Jean J; Garton, Fleur C FC
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Nature Genetics
van Rheenen, Wouter W; van der Spek, Rick A A RAA; Bakker, Mark K MK; van Vugt, Joke J F A JJFA; Hop, Paul J PJ; Zwamborn, Ramona A J RAJ; de Klein, Niek N; Westra, Harm-Jan HJ; Bakker, Olivier B OB; Deelen, Patrick P; Shireby, Gemma G; Hannon, Eilis E; Moisse, Matthieu M; Baird, Denis D; Restuadi, Restuadi R; Dolzhenko, Egor E; Dekker, Annelot M AM; Gawor, Klara K; Westeneng, Henk-Jan HJ; Tazelaar, Gijs H P GHP; van Eijk, Kristel R KR; Kooyman, Maarten M; Byrne, Ross P RP; Doherty, Mark M; Heverin, Mark M; Al Khleifat, Ahmad A; Iacoangeli, Alfredo A; Shatunov, Aleksey A; Ticozzi, Nicola N; Cooper-Knock, Johnathan J; Smith, Bradley N BN; Gromicho, Marta M; Chandran, Siddharthan S; Pal, Suvankar S; Morrison, Karen E KE; Shaw, Pamela J PJ; Hardy, John J; Orrell, Richard W RW; Sendtner, Michael M; Meyer, Thomas T; Başak, Nazli N; van der Kooi, Anneke J AJ; Ratti, Antonia A; Fogh, Isabella I; Gellera, Cinzia C; Lauria, Giuseppe G; Corti, Stefania S; Cereda, Cristina C; Sproviero, Daisy D; D'Alfonso, Sandra S; Sorarù, Gianni G; Siciliano, Gabriele G; Filosto, Massimiliano M; Padovani, Alessandro A; Chiò, Adriano A; Calvo, Andrea A; Moglia, Cristina C; Brunetti, Maura M; Canosa, Antonio A; Grassano, Maurizio M; Beghi, Ettore E; Pupillo, Elisabetta E; Logroscino, Giancarlo G; Nefussy, Beatrice B; Osmanovic, Alma A; Nordin, Angelica A; Lerner, Yossef Y; Zabari, Michal M; Gotkine, Marc M; Baloh, Robert H RH; Bell, Shaughn S; Vourc'h, Patrick P; Corcia, Philippe P; Couratier, Philippe P; Millecamps, Stéphanie S; Meininger, Vincent V; Salachas, François F; Mora Pardina, Jesus S JS; Assialioui, Abdelilah A; Rojas-García, Ricardo R; Dion, Patrick A PA; Ross, Jay P JP; Ludolph, Albert C AC; Weishaupt, Jochen H JH; Brenner, David D; Freischmidt, Axel A; Bensimon, Gilbert G; Brice, Alexis A; Durr, Alexandra A; Payan, Christine A M CAM; Saker-Delye, Safa S; Wood, Nicholas W NW; Topp, Simon S; Rademakers, Rosa R; Tittmann, Lukas L; Lieb, Wolfgang W; Franke, Andre A; Ripke, Stephan S; Braun, Alice A; Kraft, Julia J; Whiteman, David C DC; Olsen, Catherine M CM; Uitterlinden, Andre G AG; Hofman, Albert A; Rietschel, Marcella M; Cichon, Sven S; Nöthen, Markus M MM; Amouyel, Philippe P; , ; , ; , ; , ; Traynor, Bryan J BJ; Singleton, Andrew B AB; Mitne Neto, Miguel M; Cauchi, Ruben J RJ; Ophoff, Roel A RA; Wiedau-Pazos, Martina M; Lomen-Hoerth, Catherine C; van Deerlin, Vivianna M VM; Grosskreutz, Julian J; Roediger, Annekathrin A; Gaur, Nayana N; Jörk, Alexander A; Barthel, Tabea T; Theele, Erik E; Ilse, Benjamin B; Stubendorff, Beatrice B; Witte, Otto W OW; Steinbach, Robert R; Hübner, Christian A CA; Graff, Caroline C; Brylev, Lev L; Fominykh, Vera V; Demeshonok, Vera V; Ataulina, Anastasia A; Rogelj, Boris B; Koritnik, Blaž B; Zidar, Janez J; Ravnik-Glavač, Metka M; Glavač, Damjan D; Stević, Zorica Z; Drory, Vivian V; Povedano, Monica M; Blair, Ian P IP; Kiernan, Matthew C MC; Benyamin, Beben B; Henderson, Robert D RD; Furlong, Sarah S; Mathers, Susan S; McCombe, Pamela A PA; Needham, Merrilee M; Ngo, Shyuan T ST; Nicholson, Garth A GA; Pamphlett, Roger R; Rowe, Dominic B DB; Steyn, Frederik J FJ; Williams, Kelly L KL; Mather, Karen A KA; Sachdev, Perminder S PS; Henders, Anjali K AK; Wallace, Leanne L; de Carvalho, Mamede M; Pinto, Susana S; Petri, Susanne S; Weber, Markus M; Rouleau, Guy A GA; Silani, Vincenzo V; Curtis, Charles J CJ; Breen, Gerome G; Glass, Jonathan D JD; Brown, Robert H RH; Landers, John E JE; Shaw, Christopher E CE; Andersen, Peter M PM; Groen, Ewout J N EJN; van Es, Michael A MA; Pasterkamp, R Jeroen RJ; Fan, Dongsheng D; Garton, Fleur C FC; McRae, Allan F AF; Davey Smith, George G; Gaunt, Tom R TR; Eberle, Michael A MA; Mill, Jonathan J; McLaughlin, Russell L RL; Hardiman, Orla O; Kenna, Kevin P KP; Wray, Naomi R NR; Tsai, Ellen E; Runz, Heiko H; Franke, Lude L; Al-Chalabi, Ammar A; Van Damme, Philip P; van den Berg, Leonard H LH; Veldink, Jan H JH
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Nature Genetics
van Rheenen, Wouter W; van der Spek, Rick A A RAA; Bakker, Mark K MK; van Vugt, Joke J F A JJFA; Hop, Paul J PJ; Zwamborn, Ramona A J RAJ; de Klein, Niek N; Westra, Harm-Jan HJ; Bakker, Olivier B OB; Deelen, Patrick P; Shireby, Gemma G; Hannon, Eilis E; Moisse, Matthieu M; Baird, Denis D; Restuadi, Restuadi R; Dolzhenko, Egor E; Dekker, Annelot M AM; Gawor, Klara K; Westeneng, Henk-Jan HJ; Tazelaar, Gijs H P GHP; van Eijk, Kristel R KR; Kooyman, Maarten M; Byrne, Ross P RP; Doherty, Mark M; Heverin, Mark M; Al Khleifat, Ahmad A; Iacoangeli, Alfredo A; Shatunov, Aleksey A; Ticozzi, Nicola N; Cooper-Knock, Johnathan J; Smith, Bradley N BN; Gromicho, Marta M; Chandran, Siddharthan S; Pal, Suvankar S; Morrison, Karen E KE; Shaw, Pamela J PJ; Hardy, John J; Orrell, Richard W RW; Sendtner, Michael M; Meyer, Thomas T; Başak, Nazli N; van der Kooi, Anneke J AJ; Ratti, Antonia A; Fogh, Isabella I; Gellera, Cinzia C; Lauria, Giuseppe G; Corti, Stefania S; Cereda, Cristina C; Sproviero, Daisy D; D'Alfonso, Sandra S; Sorarù, Gianni G; Siciliano, Gabriele G; Filosto, Massimiliano M; Padovani, Alessandro A; Chiò, Adriano A; Calvo, Andrea A; Moglia, Cristina C; Brunetti, Maura M; Canosa, Antonio A; Grassano, Maurizio M; Beghi, Ettore E; Pupillo, Elisabetta E; Logroscino, Giancarlo G; Nefussy, Beatrice B; Osmanovic, Alma A; Nordin, Angelica A; Lerner, Yossef Y; Zabari, Michal M; Gotkine, Marc M; Baloh, Robert H RH; Bell, Shaughn S; Vourc'h, Patrick P; Corcia, Philippe P; Couratier, Philippe P; Millecamps, Stéphanie S; Meininger, Vincent V; Salachas, François F; Mora Pardina, Jesus S JS; Assialioui, Abdelilah A; Rojas-García, Ricardo R; Dion, Patrick A PA; Ross, Jay P JP; Ludolph, Albert C AC; Weishaupt, Jochen H JH; Brenner, David D; Freischmidt, Axel A; Bensimon, Gilbert G; Brice, Alexis A; Durr, Alexandra A; Payan, Christine A M CAM; Saker-Delye, Safa S; Wood, Nicholas W NW; Topp, Simon S; Rademakers, Rosa R; Tittmann, Lukas L; Lieb, Wolfgang W; Franke, Andre A; Ripke, Stephan S; Braun, Alice A; Kraft, Julia J; Whiteman, David C DC; Olsen, Catherine M CM; Uitterlinden, Andre G AG; Hofman, Albert A; Rietschel, Marcella M; Cichon, Sven S; Nöthen, Markus M MM; Amouyel, Philippe P; , ; , ; , ; , ; Traynor, Bryan J BJ; Singleton, Andrew B AB; Mitne Neto, Miguel M; Cauchi, Ruben J RJ; Ophoff, Roel A RA; Wiedau-Pazos, Martina M; Lomen-Hoerth, Catherine C; van Deerlin, Vivianna M VM; Grosskreutz, Julian J; Roediger, Annekathrin A; Gaur, Nayana N; Jörk, Alexander A; Barthel, Tabea T; Theele, Erik E; Ilse, Benjamin B; Stubendorff, Beatrice B; Witte, Otto W OW; Steinbach, Robert R; Hübner, Christian A CA; Graff, Caroline C; Brylev, Lev L; Fominykh, Vera V; Demeshonok, Vera V; Ataulina, Anastasia A; Rogelj, Boris B; Koritnik, Blaž B; Zidar, Janez J; Ravnik-Glavač, Metka M; Glavač, Damjan D; Stević, Zorica Z; Drory, Vivian V; Povedano, Monica M; Blair, Ian P IP; Kiernan, Matthew C MC; Benyamin, Beben B; Henderson, Robert D RD; Furlong, Sarah S; Mathers, Susan S; McCombe, Pamela A PA; Needham, Merrilee M; Ngo, Shyuan T ST; Nicholson, Garth A GA; Pamphlett, Roger R; Rowe, Dominic B DB; Steyn, Frederik J FJ; Williams, Kelly L KL; Mather, Karen A KA; Sachdev, Perminder S PS; Henders, Anjali K AK; Wallace, Leanne L; de Carvalho, Mamede M; Pinto, Susana S; Petri, Susanne S; Weber, Markus M; Rouleau, Guy A GA; Silani, Vincenzo V; Curtis, Charles J CJ; Breen, Gerome G; Glass, Jonathan D JD; Brown, Robert H RH; Landers, John E JE; Shaw, Christopher E CE; Andersen, Peter M PM; Groen, Ewout J N EJN; van Es, Michael A MA; Pasterkamp, R Jeroen RJ; Fan, Dongsheng D; Garton, Fleur C FC; McRae, Allan F AF; Davey Smith, George G; Gaunt, Tom R TR; Eberle, Michael A MA; Mill, Jonathan J; McLaughlin, Russell L RL; Hardiman, Orla O; Kenna, Kevin P KP; Wray, Naomi R NR; Tsai, Ellen E; Runz, Heiko H; Franke, Lude L; Al-Chalabi, Ammar A; Van Damme, Philip P; van den Berg, Leonard H LH; Veldink, Jan H JH
Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis.
Embo Molecular Medicine
Placek, Katerina K; Benatar, Michael M; Wuu, Joanne J; Rampersaud, Evadnie E; Hennessy, Laura L; Van Deerlin, Vivianna M VM; Grossman, Murray M; Irwin, David J DJ; Elman, Lauren L; McCluskey, Leo L; Quinn, Colin C; Granit, Volkan V; Statland, Jeffrey M JM; Burns, Ted M TM; Ravits, John J; Swenson, Andrea A; Katz, Jon J; Pioro, Erik P EP; Jackson, Carlayne C; Caress, James J; So, Yuen Y; Maiser, Samuel S; Walk, David D; Lee, Edward B EB; Trojanowski, John Q JQ; Cook, Philip P; Gee, James J; Sha, Jin J; Naj, Adam C AC; Rademakers, Rosa R; , ; Chen, Wenan W; Wu, Gang G; Paul Taylor, J J; McMillan, Corey T CT
The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis.
Annals Of Neurology
Tan, Harold H G HHG; Westeneng, Henk-Jan HJ; van der Burgh, Hannelore K HK; van Es, Michael A MA; Bakker, Leonhard A LA; van Veenhuijzen, Kevin K; van Eijk, Kristel R KR; van Eijk, Ruben P A RPA; Veldink, Jan H JH; van den Berg, Leonard H LH
Combined Tissue-Fluid Proteomics to Unravel Phenotypic Variability in Amyotrophic Lateral Sclerosis.
Scientific Reports
Leoni, Emanuela E; Bremang, Michael M; Mitra, Vikram V; Zubiri, Irene I; Jung, Stephan S; Lu, Ching-Hua CH; Adiutori, Rocco R; Lombardi, Vittoria V; Russell, Claire C; Koncarevic, Sasa S; Ward, Malcolm M; Pike, Ian I; Malaspina, Andrea A
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Acta Neuropathologica
Pottier, Cyril C; Ren, Yingxue Y; Perkerson, Ralph B RB; Baker, Matt M; Jenkins, Gregory D GD; van Blitterswijk, Marka M; DeJesus-Hernandez, Mariely M; van Rooij, Jeroen G J JGJ; Murray, Melissa E ME; Christopher, Elizabeth E; McDonnell, Shannon K SK; Fogarty, Zachary Z; Batzler, Anthony A; Tian, Shulan S; Vicente, Cristina T CT; Matchett, Billie B; Karydas, Anna M AM; Hsiung, Ging-Yuek Robin GR; Seelaar, Harro H; Mol, Merel O MO; Finger, Elizabeth C EC; Graff, Caroline C; Öijerstedt, Linn L; Neumann, Manuela M; Heutink, Peter P; Synofzik, Matthis M; Wilke, Carlo C; Prudlo, Johannes J; Rizzu, Patrizia P; Simon-Sanchez, Javier J; Edbauer, Dieter D; Roeber, Sigrun S; Diehl-Schmid, Janine J; Evers, Bret M BM; King, Andrew A; Mesulam, M Marsel MM; Weintraub, Sandra S; Geula, Changiz C; Bieniek, Kevin F KF; Petrucelli, Leonard L; Ahern, Geoffrey L GL; Reiman, Eric M EM; Woodruff, Bryan K BK; Caselli, Richard J RJ; Huey, Edward D ED; Farlow, Martin R MR; Grafman, Jordan J; Mead, Simon S; Grinberg, Lea T LT; Spina, Salvatore S; Grossman, Murray M; Irwin, David J DJ; Lee, Edward B EB; Suh, EunRan E; Snowden, Julie J; Mann, David D; Ertekin-Taner, Nilufer N; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Josephs, Keith A KA; Parisi, Joseph E JE; Knopman, David S DS; Petersen, Ronald C RC; Hodges, John R JR; Piguet, Olivier O; Geier, Ethan G EG; Yokoyama, Jennifer S JS; Rissman, Robert A RA; Rogaeva, Ekaterina E; Keith, Julia J; Zinman, Lorne L; Tartaglia, Maria Carmela MC; Cairns, Nigel J NJ; Cruchaga, Carlos C; Ghetti, Bernardino B; Kofler, Julia J; Lopez, Oscar L OL; Beach, Thomas G TG; Arzberger, Thomas T; Herms, Jochen J; Honig, Lawrence S LS; Vonsattel, Jean Paul JP; Halliday, Glenda M GM; Kwok, John B JB; White, Charles L CL; Gearing, Marla M; Glass, Jonathan J; Rollinson, Sara S; Pickering-Brown, Stuart S; Rohrer, Jonathan D JD; Trojanowski, John Q JQ; Van Deerlin, Vivianna V; Bigio, Eileen H EH; Troakes, Claire C; Al-Sarraj, Safa S; Asmann, Yan Y; Miller, Bruce L BL; Graff-Radford, Neill R NR; Boeve, Bradley F BF; Seeley, William W WW; Mackenzie, Ian R A IRA; van Swieten, John C JC; Dickson, Dennis W DW; Biernacka, Joanna M JM; Rademakers, Rosa R
UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis.
Neurobiology Of Aging
Placek, Katerina K; Baer, G Michael GM; Elman, Lauren L; McCluskey, Leo L; Hennessy, Laura L; Ferraro, Pilar M PM; Lee, Edward B EB; Lee, Virginia M Y VMY; Trojanowski, John Q JQ; Van Deerlin, Vivianna M VM; Grossman, Murray M; Irwin, David J DJ; McMillan, Corey T CT
Hypermetabolism in ALS is associated with greater functional decline and shorter survival.
Journal Of Neurology, Neurosurgery, And Psychiatry
Steyn, Frederik J FJ; Ioannides, Zara A ZA; van Eijk, Ruben P A RPA; Heggie, Susan S; Thorpe, Kathryn A KA; Ceslis, Amelia A; Heshmat, Saman S; Henders, Anjali K AK; Wray, Naomi R NR; van den Berg, Leonard H LH; Henderson, Robert D RD; McCombe, Pamela A PA; Ngo, Shyuan T ST
Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum.
Jama Neurology
Karch, Celeste M CM; Wen, Natalie N; Fan, Chun C CC; Yokoyama, Jennifer S JS; Kouri, Naomi N; Ross, Owen A OA; Höglinger, Gunter G; Müller, Ulrich U; Ferrari, Raffaele R; Hardy, John J; Schellenberg, Gerard D GD; Sleiman, Patrick M PM; Momeni, Parastoo P; Hess, Christopher P CP; Miller, Bruce L BL; Sharma, Manu M; Van Deerlin, Vivianna V; Smeland, Olav B OB; Andreassen, Ole A OA; Dale, Anders M AM; Desikan, Rahul S RS; ,
Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.
Neurology
van Eijk, Ruben P A RPA; Jones, Ashley R AR; Sproviero, William W; Shatunov, Aleksey A; Shaw, Pamela J PJ; Leigh, P Nigel PN; Young, Carolyn A CA; Shaw, Christopher E CE; Mora, Gabriele G; Mandrioli, Jessica J; Borghero, Giuseppe G; Volanti, Paolo P; Diekstra, Frank P FP; van Rheenen, Wouter W; Verstraete, Esther E; Eijkemans, Marinus J C MJC; Veldink, Jan H JH; Chio, Adriano A; Al-Chalabi, Ammar A; van den Berg, Leonard H LH; van Es, Michael A MA; ,
Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study.
Muscle & Nerve
Calvo, Andrea A; Moglia, Cristina C; Canosa, Antonio A; Cammarosano, Stefania S; Ilardi, Antonio A; Bertuzzo, Davide D; Traynor, Bryan J BJ; Brunetti, Maura M; Barberis, Marco M; Mora, Gabriele G; Casale, Federico F; Chiò, Adriano A
Gaastra, Benjamin B; Shatunov, Aleksey A; Pulit, Sara S; Jones, Ashley R AR; Sproviero, William W; Gillett, Alexandra A; Chen, Zhongbo Z; Kirby, Janine J; Fogh, Isabella I; Powell, John F JF; Leigh, P Nigel PN; Morrison, Karen E KE; Shaw, Pamela J PJ; Shaw, Christopher E CE; van den Berg, Leonard H LH; Veldink, Jan H JH; Lewis, Cathryn M CM; Al-Chalabi, Ammar A
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
Nature Genetics
van Rheenen, Wouter W; Shatunov, Aleksey A; Dekker, Annelot M AM; McLaughlin, Russell L RL; Diekstra, Frank P FP; Pulit, Sara L SL; van der Spek, Rick A A RA; Võsa, Urmo U; de Jong, Simone S; Robinson, Matthew R MR; Yang, Jian J; Fogh, Isabella I; van Doormaal, Perry Tc PT; Tazelaar, Gijs H P GH; Koppers, Max M; Blokhuis, Anna M AM; Sproviero, William W; Jones, Ashley R AR; Kenna, Kevin P KP; van Eijk, Kristel R KR; Harschnitz, Oliver O; Schellevis, Raymond D RD; Brands, William J WJ; Medic, Jelena J; Menelaou, Androniki A; Vajda, Alice A; Ticozzi, Nicola N; Lin, Kuang K; Rogelj, Boris B; Vrabec, Katarina K; Ravnik-Glavač, Metka M; Koritnik, Blaž B; Zidar, Janez J; Leonardis, Lea L; Grošelj, Leja Dolenc LD; Millecamps, Stéphanie S; Salachas, François F; Meininger, Vincent V; de Carvalho, Mamede M; Pinto, Susana S; Mora, Jesus S JS; Rojas-García, Ricardo R; Polak, Meraida M; Chandran, Siddharthan S; Colville, Shuna S; Swingler, Robert R; Morrison, Karen E KE; Shaw, Pamela J PJ; Hardy, John J; Orrell, Richard W RW; Pittman, Alan A; Sidle, Katie K; Fratta, Pietro P; Malaspina, Andrea A; Topp, Simon S; Petri, Susanne S; Abdulla, Susanne S; Drepper, Carsten C; Sendtner, Michael M; Meyer, Thomas T; Ophoff, Roel A RA; Staats, Kim A KA; Wiedau-Pazos, Martina M; Lomen-Hoerth, Catherine C; Van Deerlin, Vivianna M VM; Trojanowski, John Q JQ; Elman, Lauren L; McCluskey, Leo L; Basak, A Nazli AN; Tunca, Ceren C; Hamzeiy, Hamid H; Parman, Yesim Y; Meitinger, Thomas T; Lichtner, Peter P; Radivojkov-Blagojevic, Milena M; Andres, Christian R CR; Maurel, Cindy C; Bensimon, Gilbert G; Landwehrmeyer, Bernhard B; Brice, Alexis A; Payan, Christine A M CA; Saker-Delye, Safaa S; Dürr, Alexandra A; Wood, Nicholas W NW; Tittmann, Lukas L; Lieb, Wolfgang W; Franke, Andre A; Rietschel, Marcella M; Cichon, Sven S; Nöthen, Markus M MM; Amouyel, Philippe P; Tzourio, Christophe C; Dartigues, Jean-François JF; Uitterlinden, Andre G AG; Rivadeneira, Fernando F; Estrada, Karol K; Hofman, Albert A; Curtis, Charles C; Blauw, Hylke M HM; van der Kooi, Anneke J AJ; de Visser, Marianne M; Goris, An A; Weber, Markus M; Shaw, Christopher E CE; Smith, Bradley N BN; Pansarasa, Orietta O; Cereda, Cristina C; Del Bo, Roberto R; Comi, Giacomo P GP; D'Alfonso, Sandra S; Bertolin, Cinzia C; Sorarù, Gianni G; Mazzini, Letizia L; Pensato, Viviana V; Gellera, Cinzia C; Tiloca, Cinzia C; Ratti, Antonia A; Calvo, Andrea A; Moglia, Cristina C; Brunetti, Maura M; Arcuti, Simona S; Capozzo, Rosa R; Zecca, Chiara C; Lunetta, Christian C; Penco, Silvana S; Riva, Nilo N; Padovani, Alessandro A; Filosto, Massimiliano M; Muller, Bernard B; Stuit, Robbert Jan RJ; , ; , ; , ; , ; , ; , ; Blair, Ian I; Zhang, Katharine K; McCann, Emily P EP; Fifita, Jennifer A JA; Nicholson, Garth A GA; Rowe, Dominic B DB; Pamphlett, Roger R; Kiernan, Matthew C MC; Grosskreutz, Julian J; Witte, Otto W OW; Ringer, Thomas T; Prell, Tino T; Stubendorff, Beatrice B; Kurth, Ingo I; Hübner, Christian A CA; Leigh, P Nigel PN; Casale, Federico F; Chio, Adriano A; Beghi, Ettore E; Pupillo, Elisabetta E; Tortelli, Rosanna R; Logroscino, Giancarlo G; Powell, John J; Ludolph, Albert C AC; Weishaupt, Jochen H JH; Robberecht, Wim W; Van Damme, Philip P; Franke, Lude L; Pers, Tune H TH; Brown, Robert H RH; Glass, Jonathan D JD; Landers, John E JE; Hardiman, Orla O; Andersen, Peter M PM; Corcia, Philippe P; Vourc'h, Patrick P; Silani, Vincenzo V; Wray, Naomi R NR; Visscher, Peter M PM; de Bakker, Paul I W PI; van Es, Michael A MA; Pasterkamp, R Jeroen RJ; Lewis, Cathryn M CM; Breen, Gerome G; Al-Chalabi, Ammar A; van den Berg, Leonard H LH; Veldink, Jan H JH
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
Jama Neurology
Fogh, Isabella I; Lin, Kuang K; Tiloca, Cinzia C; Rooney, James J; Gellera, Cinzia C; Diekstra, Frank P FP; Ratti, Antonia A; Shatunov, Aleksey A; van Es, Michael A MA; Proitsi, Petroula P; Jones, Ashley A; Sproviero, William W; Chiò, Adriano A; McLaughlin, Russell Lewis RL; Sorarù, Gianni G; Corrado, Lucia L; Stahl, Daniel D; Del Bo, Roberto R; Cereda, Cristina C; Castellotti, Barbara B; Glass, Jonathan D JD; Newhouse, Steven S; Dobson, Richard R; Smith, Bradley N BN; Topp, Simon S; van Rheenen, Wouter W; Meininger, Vincent V; Melki, Judith J; Morrison, Karen E KE; Shaw, Pamela J PJ; Leigh, P Nigel PN; Andersen, Peter M PM; Comi, Giacomo P GP; Ticozzi, Nicola N; Mazzini, Letizia L; D'Alfonso, Sandra S; Traynor, Bryan J BJ; Van Damme, Philip P; Robberecht, Wim W; Brown, Robert H RH; Landers, John E JE; Hardiman, Orla O; Lewis, Cathryn M CM; van den Berg, Leonard H LH; Shaw, Christopher E CE; Veldink, Jan H JH; Silani, Vincenzo V; Al-Chalabi, Ammar A; Powell, John J