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756 results

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Page 1
Central and peripheral α-synuclein in Parkinson disease detected by seed amplification assay.
Chahine LM, Beach TG, Adler CH, Hepker M, Kanthasamy A, Appel S, Pritzkow S, Pinho M, Mosovsky S, Serrano GE, Coffey C, Brumm MC, Oliveira LMA, Eberling J, Mollenhauer B; Systemic Synuclein Sampling Study. Chahine LM, et al. Among authors: appel s. Ann Clin Transl Neurol. 2023 May;10(5):696-705. doi: 10.1002/acn3.51753. Epub 2023 Mar 27. Ann Clin Transl Neurol. 2023. PMID: 36972727 Free PMC article.
A high polygenic risk score is associated with SSA/SSB antibody positivity and early onset in primary Sjögren's disease.
Fugmann C, Reid S, Pucholt P, Kvarnström M, Björk A, Mofors J, Sjöwall C, Eriksson P, Olsson P, Mandl T, Forsblad-d'Elia H, Magnusson Bucher S, Johnsen SJ, Norheim KB, Appel S, Hammenfors D, Jensen JL, Palm Ø, Omdal R, Jonsson R, Baecklund E, Wahren-Herlenius M, Leonard D, Imgenberg-Kreuz J, Nordmark G. Fugmann C, et al. Among authors: appel s. Rheumatology (Oxford). 2024 Dec 18:keae693. doi: 10.1093/rheumatology/keae693. Online ahead of print. Rheumatology (Oxford). 2024. PMID: 39693120
Safety and tolerability of tegoprubart in patients with amyotrophic lateral sclerosis: A Phase 2A clinical trial.
Perrin S, Ladha S, Maragakis N, Rivner MH, Katz J, Genge A, Olney N, Lange D, Heitzman D, Bodkin C, Jawdat O, Goyal NA, Bornstein JD, Mak C, Appel SH, Paganoni S. Perrin S, et al. Among authors: appel sh. PLoS Med. 2024 Oct 31;21(10):e1004469. doi: 10.1371/journal.pmed.1004469. eCollection 2024 Oct. PLoS Med. 2024. PMID: 39480764 Free PMC article. Clinical Trial.
Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases.
Bianchi M, Kozyrev SV, Notarnicola A, Sandling JK, Pettersson M, Leonard D, Sjöwall C, Gunnarsson I, Rantapää-Dahlqvist S, Bengtsson AA, Jönsen A, Svenungsson E, Enocsson H, Kvarnström M, Forsblad-d'Elia H, Bucher SM, Norheim KB, Baecklund E, Jonsson R, Hammenfors D, Eriksson P, Mandl T, Omdal R, Padyukov L, Andersson H, Molberg Ø, Diederichsen LP, Syvänen AC, Wahren-Herlenius M, Nordmark G, Lundberg IE, Rönnblom L, Lindblad-Toh K; with the DISSECT consortium and the ImmunoArray consortium. Bianchi M, et al. Arthritis Rheumatol. 2024 Sep 16. doi: 10.1002/art.42988. Online ahead of print. Arthritis Rheumatol. 2024. PMID: 39284741
Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland.
Wiley MM, Khatri B, Joachims ML, Tessneer KL, Stolarczyk AM, Rasmussen A, Anaya JM, Aqrawi LA, Bae SC, Baecklund E, Björk A, Brun JG, Bucher SM, Dand N, Eloranta ML, Engelke F, Forsblad-d'Elia H, Fugmann C, Glenn SB, Gong C, Gottenberg JE, Hammenfors D, Imgenberg-Kreuz J, Jensen JL, Johnsen SJA, Jonsson MV, Kelly JA, Khanam S, Kim K, Kvarnström M, Mandl T, Martín J, Morris DL, Nocturne G, Norheim KB, Olsson P, Palm Ø, Pers JO, Rhodus NL, Sjöwall C, Skarstein K, Taylor KE, Tombleson P, Thorlacius GE, Venuturupalli S, Vital EM, Wallace DJ, Grundahl KM, Radfar L, Brennan MT, James JA, Scofield RH, Gaffney PM, Criswell LA, Jonsson R, Appel S, Eriksson P, Bowman SJ, Omdal R, Rönnblom L, Warner BM, Rischmueller M, Witte T, Farris AD, Mariette X, Shiboski CH; Sjögren’s International Collaborative Clinical Alliance (SICCA); Wahren-Herlenius M, Alarcón-Riquelme ME; PRECISESADS Clinical Consortium; Ng WF; UK Primary Sjögren’s Syndrome Registry; Sivils KL, Guthridge JM, Adrianto I, Vyse TJ, Tsao BP, Nordmark G, Lessard CJ. Wiley MM, et al. Among authors: appel s. bioRxiv [Preprint]. 2023 Oct 6:2023.10.05.561076. doi: 10.1101/2023.10.05.561076. bioRxiv. 2023. PMID: 39071447 Free PMC article. Preprint.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1. BMC Genomics. 2024. PMID: 38951798 Free PMC article.
756 results