Publications:

Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.

Brain Communications

Ruf, Wolfgang P WP; Boros, Matej M; Freischmidt, Axel A; Brenner, David D; Grozdanov, Veselin V; de Meirelles, Joao J; Meyer, Thomas T; Grehl, Torsten T; Petri, Susanne S; Grosskreutz, Julian J; Weyen, Ute U; Guenther, Rene R; Regensburger, Martin M; Hagenacker, Tim T; Koch, Jan C JC; Emmer, Alexander A; Roediger, Annekathrin A; Steinbach, Robert R; Wolf, Joachim J; Weishaupt, Jochen H JH; Lingor, Paul P; Deschauer, Marcus M; Cordts, Isabell I; Klopstock, Thomas T; Reilich, Peter P; Schoeberl, Florian F; Schrank, Berthold B; Zeller, Daniel D; Hermann, Andreas A; Knehr, Antje A; Günther, Kornelia K; Dorst, Johannes J; Schuster, Joachim J; Siebert, Reiner R; Ludolph, Albert C AC; Müller, Kathrin K

Publication Date: 2023

Variant appearance in text: ALS2: 2479A>T; T827S

PubMed Link: 37223130

Variant Present in the following documents:

• fcad152_supplementary_data.pdf

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Systematic evaluation of genetic mutations in ALS: a population-based study.

Journal Of Neurology, Neurosurgery, And Psychiatry

Grassano, Maurizio M; Calvo, Andrea A; Moglia, Cristina C; Sbaiz, Luca L; Brunetti, Maura M; Barberis, Marco M; Casale, Federico F; Manera, Umberto U; Vasta, Rosario R; Canosa, Antonio A; D'Alfonso, Sandra S; Corrado, Lucia L; Mazzini, Letizia L; Dalgard, Clifton C; Karra, Ramita R; Chia, Ruth R; Traynor, Bryan B; Chiò, Adriano A

Publication Date: 2022-07-27

Variant appearance in text: ALS2: 2479A>T; T827S

PubMed Link: 35896380

Variant Present in the following documents:

• jnnp-2022-328931supp001.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ALS2: T827S; rs202219507

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page