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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 1
1986 1
1988 1
1991 1
1999 1
2001 2
2002 37
2003 39
2004 50
2005 46
2006 54
2007 49
2008 37
2009 47
2010 56
2011 60
2012 60
2013 68
2014 69
2015 76
2016 69
2017 75
2018 77
2019 59
2020 67
2021 68
2022 68
2023 60
2024 21

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1,185 results

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Page 1
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. Donkervoort S, et al. Among authors: davis mr. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. Sci Transl Med. 2024. PMID: 38569017
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, O'Donnell-Luria A, O'Grady GL, Osei-Owusu IA, Rafehi H, Reddel SW, Roxburgh RH, Ryan MM, Sandaradura SA, Scott LW, Valkanas E, Weisburd B, Young H, Evesson FJ, Waddell LB, Cooper ST. Marchant RG, et al. Among authors: davis mr. Ann Clin Transl Neurol. 2024 Mar 27. doi: 10.1002/acn3.52041. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38544359 Free article.
Impaired innate and adaptive immune responses to BNT162b2 SARS-CoV-2 vaccination in systemic lupus erythematosus.
Sarin KY, Zheng H, Chaichian Y, Arunachalam PS, Swaminathan G, Eschholz A, Gao F, Wirz OF, Lam B, Yang E, Lee LW, Feng A, Lewis MA, Lin J, Maecker HT, Boyd SD, Davis MM, Nadeau KC, Pulendran B, Khatri P, Utz PJ, Zaba LC. Sarin KY, et al. Among authors: davis mm. JCI Insight. 2024 Mar 8;9(5):e176556. doi: 10.1172/jci.insight.176556. JCI Insight. 2024. PMID: 38456511 Free PMC article.
Mtb HLA-E-tetramer-sorted CD8+ T cells have a diverse TCR repertoire.
Voogd L, Drittij AMHF, Dingenouts CKE, Franken KLMC, Unen VV, van Meijgaarden KE, Ruibal P, Hagedoorn RS, Leitner JA, Steinberger P, Heemskerk MHM, Davis MM, Scriba TJ, Ottenhoff THM, Joosten SA. Voogd L, et al. Among authors: davis mm. iScience. 2024 Feb 15;27(3):109233. doi: 10.1016/j.isci.2024.109233. eCollection 2024 Mar 15. iScience. 2024. PMID: 38439958 Free PMC article.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: davis mr. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
HLA-DQB1*05 subtypes and not DRB1*10:01 mediates risk in anti-IgLON5 disease.
Yogeshwar SM, Muñiz-Castrillo S, Sabater L, Peris-Sempere V, Mallajosyula V, Luo G, Yan H, Yu E, Zhang J, Lin L, Fagundes Bueno F, Ji X, Picard G, Rogemond V, Pinto AL, Heidbreder A, Höftberger R, Graus F, Dalmau J, Santamaria J, Iranzo A, Schreiner B, Giannoccaro MP, Liguori R, Shimohata T, Kimura A, Ono Y, Binks S, Mariotto S, Dinoto A, Bonello M, Hartmann CJ, Tambasco N, Nigro P, Prüss H, McKeon A, Davis MM, Irani SR, Honnorat J, Gaig C, Finke C, Mignot E. Yogeshwar SM, et al. Among authors: davis mm. Brain. 2024 Mar 1:awae048. doi: 10.1093/brain/awae048. Online ahead of print. Brain. 2024. PMID: 38425314
Neutrophilic Panniculitides.
Maniam GB, Coakley A, Huong Nguyen G, Alavi A, Davis MDP. Maniam GB, et al. Among authors: davis mdp. Dermatol Clin. 2024 Apr;42(2):285-295. doi: 10.1016/j.det.2023.08.005. Epub 2023 Sep 14. Dermatol Clin. 2024. PMID: 38423687 Review.
An approach to diagnosis and management of patients with pyoderma gangrenosum from an international perspective: results from an expert forum.
Haddadin OM, Ortega-Loayza AG, Marzano AV, Davis MDP, Dini V, Dissemond J, Hampton PJ, Navarini AA, Shavit E, Tada Y, Yamamoto T, Alavi AA. Haddadin OM, et al. Among authors: davis mdp. Arch Dermatol Res. 2024 Feb 24;316(3):89. doi: 10.1007/s00403-024-02829-0. Arch Dermatol Res. 2024. PMID: 38400852 No abstract available.
1,185 results