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Identified 11

TITLE: Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis Full Text
AUTHORS: Tazelaar, Gijs H. P.; Hop, Paul J.; Seelen, Meinie; van Vugt, Joke J. F. A.; van Rheenen, Wouter; Kool, Lindy; van Eijk, Kristel R.; Gijzen, Marleen; Dooijes, Dennis; Moisse, Matthieu; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Nordin, Angelica; Pardina, Jesus S. Mora; Ravits, John; Al Chalabi, Ammar; Chio, Adriano; McLaughlin, Russell L.; Hardiman, Orla; Van Damme, Philip; de Carvalho, Mamede; Neuwirth, Christoph; Weber, Markus; Andersen, Peter M.; van den Berg, Leonard H.; Veldink, Jan H.; van Es, Michael A.; ...More
PUBLISHED: 2022, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 122

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TITLE: Reinnervation as measured by the motor unit size index is associated with preservation of muscle strength in amyotrophic lateral sclerosis, but not all muscles reinnervate Full Text
AUTHORS: Chan, Y; Alix, JJP; Neuwirth, C; Barkhaus, PE; Castro, J; Jenkins, TM; McDermott, CJ; Shaw, PJ; de Carvalho, M; Nandedkar, S; Stalberg, E; Weber, M;
PUBLISHED: 2021, SOURCE: MUSCLE & NERVE

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TITLE: Diagnostic criteria for amyotrophic lateral sclerosis: A multicentre study of inter-rater variation and sensitivity Full Text
AUTHORS: Johnsen, B; Pugdahl, K; Fuglsang Frederiksen, A; Kollewe, K; Paracka, L; Dengler, R; Camdessanche, JP; Nix, W; Liguori, R; Schofield, I; Maderna, L; Czell, D; Neuwirth, C; Weber, M; Drory, VE; Abraham, A; Swash, M; de Carvalho, M;
PUBLISHED: 2019, SOURCE: CLINICAL NEUROPHYSIOLOGY, VOLUME: 130, ISSUE: 2

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TITLE: Assessment of the reliability of the motor unit size index (MUSIX) in single subject "round-robin" and multi-centre settings
AUTHORS: James J P Alix; Christoph Neuwirth; Lucy Gelder; Christian Burkhardt; Jose Castro; Mamede de Carvalho; Malgorzata Gawel; Stephan Goedee; Julian Grosskreutz; Timothee Lenglet; Cristina Moglia; Taha Omer; Maarten Schrooten; Sanjeev Nandedkar; Erik Stalberg; Paul E Barkhaus; Jasna Furtula; Johannes P van Dijk; Reto Baldinger; Joao Costa; Marit Otto; Arne Sandberg; Markus Weber; ...More
PUBLISHED: 2019, SOURCE: CLINICAL NEUROPHYSIOLOGY, VOLUME: 130, ISSUE: 5

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TITLE: Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations Full Text
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: Hot-spot KIF5A mutations cause familial ALS Full Text
AUTHORS: Brenner, D; 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; Strom, TM; Ludolph, AC; Andersen, PM; Weishaupt, JH; Weyen, U; Hermann, A; Hagenacker, T; Koch, JC; Lingor, P; Göricke, B; Zierz, S; Baum, P; Wolf, J; Winkler, A; Young, P; Bogdahn, U; Prudlo, J; Kassubek, J; ...More
PUBLISHED: 2018, SOURCE: BRAIN, VOLUME: 141, ISSUE: 3

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