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Identified 22

TITLE: C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis
AUTHORS: Miltenberger Miltenyi, G; Conceicao, VA; Gromicho, M; Pronto Laborinho, AC; Pinto, S; Andersen, PM; de Carvalho, M;
PUBLISHED: 2019, SOURCE: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 90, ISSUE: 1

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TITLE: Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations
AUTHORS: Brenner, D; Rosenbohm, A; Yilmaz, R; Müller, K; Grehl, T; Petri, S; Meyer, T; Grosskreutz, J; Weydt, P; Ruf, W; Neuwirth, C; Weber, M; Pinto, S; Claeys, KG; Schrank, B; Jordan, B; Knehr, A; Günther, K; Hübers, A; Zeller, D; Kubisch, C; Jablonka, S; Sendtner, M; Klopstock, T; de Carvalho, M; Sperfeld, A; Borck, G; Volk, AE; Dorst, J; Weis, J; Otto, M; Schuster, J; Del Tredici, K; Braak, H; Danzer, KM; Freischmidt, A; Meitinger, T; Ludolph, AC; Andersen, PM; Weishaupt, JH; ...More
PUBLISHED: 2019, SOURCE: BRAIN, VOLUME: 142, ISSUE: 12

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TITLE: Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
AUTHORS: McLaughlin, RL; Schijven, D; Van Rheenen, W; Van Eijk, KR; O'Brien, M; Kahn, RS; Ophoff, RA; Goris, A; Bradley, DG; Al Chalabi, A; Van Den Berg, LH; Luykx, JJ; Hardiman, O; Veldink, JH; Shatunov, A; Dekker, AM; Diekstra, FP; Pulit, SL; Van Der Spek, RAA; Van Doormaal, PTC; Sproviero, W; Jones, AR; Nicholson, GA; Rowe, DB; Pamphlett, R; Kiernan, MC; Bauer, D; Kahlke, T; Williams, K; Eftimov, F; Fogh, I; Ticozzi, N; Lin, K; Millecamps, S; Salachas, F; Meininger, V; Carvalho, MD; Pinto, S; Mora, JS; Rojas Garcyá, R; Polak, M; Chandran, S; Colville, S; Swingler, R; Morrison, KE; Shaw, PJ; Hardy, J; Orrell, RW; Pittman, A; Sidle, K; Fratta, P; Malaspina, A; Petri, S; Abdulla, S; Drepper, C; Sendtner, M; Meyer, T; Wiedau Pazos, M; Lomen Hoerth, C; Deerlin, VMV; Trojanowski, JQ; Elman, L; McCluskey, L; Basak, N; Meitinger, T; Lichtner, P; Blagojevic Radivojkov, M; Andres, CR; Maurel, C; Bensimon, G; Landwehrmeyer, B; Brice, A; Payan, CAM; Saker Delye, S; Durr, A; Wood, N; Tittmann, L; Lieb, W; Franke, A; Rietschel, M; Cichon, S; Nothen, MM; Amouyel, P; Tzourio, C; Dartigues, JF; Uitterlinden, AG; Rivadeneira, F; Estrada, K; Hofman, A; Curtis, C; Derkooi, AJV; De Visser, M; Weber, M; Shaw, CE; Smith, BN; Pansarasa, O; Cereda, C; Bo, RD; Comi, GP; D'Alfonso, S; Bertolin, C; Soraru, G; Mazzini, L; Pensato, V; Gellera, C; Tiloca, C; Ratti, A; Calvo, A; Moglia, C; Brunetti, M; Arcuti, S; Capozzo, R; Zecca, C; Lunetta, C; Penco, S; Riva, N; Padovani, A; Filosto, M; Blair, I; Nigel Leigh, P; Casale, F; Chio, A; Beghi, E; Pupillo, E; Tortelli, R; Logroscino, G; Powell, J; Ludolph, AC; Weishaupt, JH; Robberecht, W; Damme, PV; Brown, RH; Glass, J; Landers, JE; Andersen, PM; Corcia, P; Vourc'H, P; Silani, V; Es, MAV; Pasterkamp, RJ; Lewis, CM; Breen, G; Ripke, S; Neale, BM; Corvin, A; Walters, JTR; Farh, KH; Holmans, PA; Lee, P; Bulik Sullivan, B; Collier, DA; Huang, H; Pers, TH; Agartz, I; Agerbo, E; Albus, M; Alexander, M; Amin, F; Bacanu, SA; Begemann, M; Belliveau, RA; Bene, J; Bergen, SE; Bevilacqua, E; Bigdeli, TB; Black, DW; Bruggeman, R; Buccola, NG; Buckner, RL; Byerley, W; Cahn, W; Cai, G; Campion, D; Cantor, RM; Carr, VJ; Carrera, N; Catts, SV; Chambert, KD; Chan, RCK; Chan, RYL; Chen, EYH; Cheng, W; Cheung, EFC; Chong, SA; Cloninger, CR; Cohen, D; Cohen, N; Cormican, P; Craddock, N; Crowley, JJ; Curtis, D; Davidson, M; Davis, KL; Degenhardt, F; Favero, JD; Demontis, D; Dikeos, D; Dinan, T; Djurovic, S; Donohoe, G; Drapeau, E; Duan, J; Dudbridge, F; Durmishi, N; Eichhammer, P; Eriksson, J; Escott Price, V; Essioux, L; Fanous, AH; Farrell, MS; Frank, J; Franke, L; Freedman, R; Freimer, NB; Friedl, M; Friedman, JI; Fromer, M; Genovese, G; Georgieva, L; Giegling, I; Giusti Rodrýguez, P; Godard, S; Goldstein, JI; Golimbet, V; Gopal, S; Gratten, J; De Haan, L; Hammer, C; Hamshere, ML; Hansen, M; Hansen, T; Haroutunian, V; Hartmann, AM; Henskens, FA; Herms, S; Hirschhorn, JN; Hoffmann, P; Hofman, A; Hollegaard, MV; Hougaard, DM; Ikeda, M; Joa, I; Julia, A; Kalaydjieva, L; Karachanak Yankova, S; Karjalainen, J; Kavanagh, D; Keller, MC; Kennedy, JL; Khrunin, A; Kim, Y; Klovins, J; Knowles, JA; Konte, B; Kucinskas, V; Kucinskiene, ZA; Kuzelova Ptackova, H; Kahler, AK; Laurent, C; Lee, J; Hong Lee, S; Legge, SE; Lerer, B; Li, M; Li, T; Liang, KY; Lieberman, J; Limborska, S; Loughland, CM; Lubinski, J; Lonnqvist, J; MacEk, M; Magnusson, PKE; Maher, BS; Maier, W; Mallet, J; Marsal, S; Mattheisen, M; Mattingsdal, M; McCarley, RW; McDonald, C; McIntosh, AM; Meier, S; Meijer, CJ; Melegh, B; Melle, I; Mesholam Gately, RI; Metspalu, A; Michie, PT; Milani, L; Milanova, V; Mokrab, Y; Morris, DW; Mors, O; Murphy, KC; Murray, RM; Myin Germeys, I; Muller Myhsok, B; Nelis, M; Nenadic, I; Nertney, DA; Nestadt, G; Nicodemus, KK; Nikitina Zake, L; Nisenbaum, L; Nordin, A; O'Callaghan, E; O'Dushlaine, C; Anthony O'Neill, F; Oh, SY; Olincy, A; Olsen, L; Vanos, J; Pantelis, C; Papadimitriou, GN; Papiol, S; Parkhomenko, E; Pato, MT; Paunio, T; Pejovic Milovancevic, M; Perkins, DO; Pietilainen, O; Pimm, J; Pocklington, AJ; Price, A; Pulver, AE; Purcell, SM; Quested, D; Rasmussen, HB; Reichenberg, A; Reimers, MA; Richards, AL; Roffman, JL; Roussos, P; Ruderfer, DM; Salomaa, V; Sanders, AR; Schall, U; Schubert, CR; Schulze, TG; Schwab, SG; Scolnick, EM; Scott, RJ; Seidman, LJ; Shi, J; Sigurdsson, E; Silagadze, T; Silverman, JM; Sim, K; Slominsky, P; Smoller, JW; So, HC; Spencer, CCA; Stah, EA; Stefansson, H; Steinberg, S; Stogmann, E; Straub, RE; Strengman, E; Strohmaier, J; Scott Stroup, T; Subramaniam, M; Suvisaari, J; Svrakic, DM; Szatkiewicz, JP; Söderman, E; Thirumalai, S; Toncheva, D; Tosato, S; Veijola, J; Waddington, J; Walsh, D; Wang, D; Wang, Q; Webb, BT; Weiser, M; Wildenauer, DB; Williams, NM; Williams, S; Witt, SH; Wolen, AR; Wong, EHM; Wormley, BK; Xi, HS; Zai, CC; Zheng, X; Zimprich, F; Wray, NR; Stefansson, K; Visscher, PM; Adolfsson, R; Andreassen, OA; Blackwood, DHR; Bramon, E; Buxbaum, JD; Børglum, AD; Darvasi, A; Domenici, E; Ehrenreich, H; Esko, T; Gejman, PV; Gil, M; Gurling, H; Hultman, CM; Iwata, N; Jablensky, AV; Jonsson, EG; Kendler, KS; Kirov, G; Knight, J; Lencz, T; Levinson, DF; Li, QS; Liu, J; Malhotra, AK; McCarrol, SA; McQuillin, A; Moran, JL; Mortensen, PB; Mowry, BJ; Owen, MJ; Palotie, A; Pato, CN; Petryshen, TL; Posthuma, D; Riley, BP; Rujescu, D; Sham, PC; Sklar, P; Clair, DS; Weinberger, DR; Wendland, JR; Werge, T; Daly, MJ; Sullivan, PF; O'Donovan, MC; ...More
PUBLISHED: 2017, SOURCE: Nature Communications, VOLUME: 8, ISSUE: 1

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CrossRef: 119

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TITLE: Phosphoneurofilament heavy chain and vascular endothelial growth factor as cerebrospinal fluid biomarkers for ALS
AUTHORS: Gonçalves, M; De Carvalho, M; Peixoto, C; Alves, P; Barreto, C; Oliva, A; Pinto, S; Laborinho Pronto, A; Gromicho, M; Costa, J;
PUBLISHED: 2017, SOURCE: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, VOLUME: 18, ISSUE: 1-2

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CrossRef: 1

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TITLE: Targeted genetic screen in amyotrophic lateral sclerosis reveals novel genetic variants with synergistic effect on clinical phenotype
AUTHORS: Cooper Knock, J; Robins, H; Niedermoser, I; Wyles, M; Heath, PR; Higginbottom, A; Walsh, T; Kazoka, M; Al Kheifat, A; Al Chalabi, A; Basak, N; Blair, I; Dekker, A; Hardiman, O; Hide, W; Iacoangeli, A; Kenna, K; Landers, J; McLaughlin, R; Mill, J; Middelkoop, B; Moisse, M; Pardina, JM; Morrison, K; Newhouse, S; Pulit, S; Shatunov, A; Shaw, C; Sproviero, W; Tazelaar, G; van Damme, P; van den Berg, L; van der Spek, R; Eijk, K; van Es, M; van Rheenen, W; van Vugt, J; Veldink, J; Kooyman, M; Glass, J; Robberecht, W; Gotkine, M; Drory, V; Kiernan, M; Neto, MM; Ztaz, M; Couratier, P; Corcia, P; Silani, V; Chio, A; de Carvalho, M; Pinto, S; Redondo, AG; Andersen, P; Weber, M; Ticozzi, N; Ince, PG; Hautbergue, GM; McDermott, CJ; Kirby, J; Shaw, PJ; ...More
PUBLISHED: 2017, SOURCE: Frontiers in Molecular Neuroscience, VOLUME: 10

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CrossRef: 26

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TITLE: Seasons and ALS time of death
AUTHORS: Susana Pinto; Mamede De Carvalho;
PUBLISHED: 2017, SOURCE: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, VOLUME: 18, ISSUE: 3-4

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TITLE: Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
AUTHORS: Wouter van Rheenen; Aleksey Shatunov; Annelot M Dekker; Russell L McLaughlin; Frank P Diekstra; Sara L Pulit; Rick A A van der Spek; Urmo Vosa; Simone de Jong; Matthew R Robinson; Jian Yang; Isabella Fogh; Perry T C van Doormaal; Gijs H P Tazelaar; Max Koppers; Anna M Blokhuis; William Sproviero; Ashley R Jones; Kevin P Kenna; Kristel R van Eijk; Oliver Harschnitz; Raymond D Schellevis; William J Brands; Jelena Medic; Androniki Menelaou; Alice Vajda; Nicola Ticozzi; Kuang Lin; Boris Rogelj; Katarina Vrabec; Metka Ravnik Glavac; Blazi Koritnik; Janez Zidar; Lea Leonardis; Leja Dolenc Groselj; Stephanie Millecamps; Francois Salachas; Vincent Meininger; Mamede de Carvalho; Susana Pinto; Jesus S Mora; Ricardo Rojas Garcia; Meraida Polak; Siddharthan Chandran; Shuna Colville; Robert Swingler; Karen E Morrison; Pamela J Shaw; John Hardy; Richard W Orrell; Alan Pittman; Katie Sidle; Pietro Fratta; Andrea Malaspina; Simon Topp; Susanne Petri; Susanne Abdulla; Carsten Drepper; Michael Sendtner; Thomas Meyer; Roel A Ophoff; Kim A Staats; Martina Wiedau Pazos; Catherine Lomen Hoerth; Vivianna M Van Deerlin; John Q Trojanowski; Lauren Elman; Leo McCluskey; Nazli N Basak; Ceren Tunca; Hamid Hamzeiy; Yesim Parman; Thomas Meitinger; Peter Lichtner; Milena Radivojkov Blagojevic; Christian R Andres; Cindy Maurel; Gilbert Bensimon; Bernhard Landwehrmeyer; Alexis Brice; Christine A M Payan; Safaa Saker Delye; Alexandra Duerr; Nicholas W Wood; Lukas Tittmann; Wolfgang Lieb; Andre Franke; Marcella Rietschel; Sven Cichon; Markus M Noethen; Philippe Amouyel; Christophe Tzourio; Jean Francois Dartigues; Andre G Uitterlinden; Fernando Rivadeneira; Karol Estrada; Albert Hofman; Charles Curtis; Hylke M Blauw; Anneke J van der Kooi; Marianne de Visser; An Goris; Markus Weber; Christopher E Shaw; Bradley N Smith; Orietta Pansarasa; Cristina Cereda; Roberto Del Bo; Giacomo P Comi; Sandra D'Alfonso; Cinzia Bertolin; Gianni Soraru; Letizia Mazzini; Viviana Pensato; Cinzia Gellera; Cinzia Tiloca; Antonia Ratti; Andrea Calvo; Cristina Moglia; Maura Brunetti; Simona Arcuti; Rosa Capozzo; Chiara Zecca; Christian Lunetta; Silvana Penco; Nilo Riva; Alessandro Padovani; Massimiliano Filosto; Bernard Muller; Robbert Jan Stuit; Ian Blair; Katharine Zhang; Emily P McCann; Jennifer A Fifita; Garth A Nicholson; Dominic B Rowe; Roger Pamphlett; Matthew C Kiernan; Julian Grosskreutz; Otto W Witte; Thomas Ringer; Tino Prell; Beatrice Stubendorff; Ingo Kurth; Christian A Huebner; Nigel N Leigh; Federico Casale; Adrian Chio; Ettore Beghi; Elisabetta Pupillo; Rosanna Tortelli; Giancarlo Logroscino; John Powell; Albert C Ludolph; Jochen H Weishaupt; Wim Robberecht; Philip Van Damme; Lude Franke; Tune H Pers; Robert H Brown; Jonathan D Glass; John E Landers; Orla Hardiman; Peter M Andersen; Philippe Corcia; Patrick Vourc'h; Vincenzo Silani; Naomi R Wray; Peter M Visscher; Paul I W de Bakker; Michael A van Es; Jeroen J Pasterkamp; Cathryn M Lewis; Gerome Breen; Ammar Al Chalabi; Leonard H van den Berg; Jan H Veldink; ...More
PUBLISHED: 2016, SOURCE: NATURE GENETICS, VOLUME: 48, ISSUE: 9

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TITLE: Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study
AUTHORS: Angelica Nordin; Chizuru Akimoto; Anna Wuolikainen; Helena Alstermark; Karin Forsberg; Peter Baumann; Susana Pinto; Mamede de Carvalho; Annemarie Hübers; Frida Nordin; Albert C Ludolph; Jochen H Weishaupt; Thomas Meyer; Torsten Grehl; Kathi Schweikert; Markus Weber; Christian Burkhardt; Christoph Neuwirth; Trygve Holmøy; Mitsuya Morita; Ole-Bjørn Tysnes; Michael Benatar; Joanne Wuu; Dale J Lange; Carsten Bisgård; Nasrin Asgari; Ilkka Tarvainen; Thomas Brännström; Peter M Andersen; ...More
PUBLISHED: 2016, SOURCE: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, VOLUME: 18, ISSUE: 3-4

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CrossRef: 17

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