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Year Number of Results
1980 1
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1985 1
1986 2
1987 2
1988 3
1990 4
1991 8
1992 2
1993 5
1994 4
1995 5
1996 4
1997 5
1998 5
1999 6
2000 9
2001 3
2002 8
2003 8
2004 6
2005 7
2006 9
2007 10
2008 6
2009 12
2010 7
2011 14
2012 9
2013 7
2014 11
2015 10
2016 7
2017 7
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2019 12
2020 9
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2024 12

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250 results

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Page 1
Introduction.
Dirksen RT, Wang W, Sheu SS. Dirksen RT, et al. Arch Biochem Biophys. 2019 Jul 15;669:31. doi: 10.1016/j.abb.2019.05.015. Epub 2019 May 18. Arch Biochem Biophys. 2019. PMID: 31112707 No abstract available.
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ, Dirksen RT, Girard T, Gonsalves SG, Hopkins PM, Riazi S, Saddic LA, Sambuughin N, Saxena R, Stowell K, Weber J, Rosenberg H, Biesecker LG. Johnston JJ, et al. Among authors: dirksen rt. Genet Med. 2021 Jul;23(7):1288-1295. doi: 10.1038/s41436-021-01125-w. Epub 2021 Mar 25. Genet Med. 2021. PMID: 33767344 Free PMC article.
Malignant Hyperthermia Susceptibility.
Rosenberg H, Sambuughin N, Riazi S, Dirksen R. Rosenberg H, et al. Among authors: dirksen r. 2003 Dec 19 [updated 2020 Jan 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Dec 19 [updated 2020 Jan 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301325 Free Books & Documents. Review.
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
Johnston JJ, Dirksen RT, Girard T, Hopkins PM, Kraeva N, Ognoon M, Radenbaugh KB, Riazi S, Robinson RL, Saddic Iii LA, Sambuughin N, Saxena R, Shepherd S, Stowell K, Weber J, Yoo S, Rosenberg H, Biesecker LG. Johnston JJ, et al. Among authors: dirksen rt. Hum Mol Genet. 2022 Nov 28;31(23):4087-4093. doi: 10.1093/hmg/ddac145. Hum Mol Genet. 2022. PMID: 35849058 Free PMC article.
Substance P.
Snijdelaar DG, Dirksen R, Slappendel R, Crul BJ. Snijdelaar DG, et al. Among authors: dirksen r. Eur J Pain. 2000;4(2):121-35. doi: 10.1053/eujp.2000.0171. Eur J Pain. 2000. PMID: 10957694 Review.
Genomic Screening for Malignant Hyperthermia Susceptibility.
Biesecker LG, Dirksen RT, Girard T, Hopkins PM, Riazi S, Rosenberg H, Stowell K, Weber J. Biesecker LG, et al. Among authors: dirksen rt. Anesthesiology. 2020 Dec 1;133(6):1277-1282. doi: 10.1097/ALN.0000000000003547. Anesthesiology. 2020. PMID: 32898259 Free PMC article. Review.
Glutathione supports lipid abundance in vivo.
Asantewaa G, Tuttle ET, Ward NP, Kang YP, Kim Y, Kavanagh ME, Girnius N, Chen Y, Duncan R, Rodriguez K, Hecht F, Zocchi M, Smorodintsev-Schiller L, Scales TQ, Taylor K, Alimohammadi F, Sechrist ZR, Agostini-Vulaj D, Schafer XL, Chang H, Smith Z, O'Connor TN, Whelan S, Selfors LM, Crowdis J, Gray GK, Bronson RT, Brenner D, Rufini A, Dirksen RT, Hezel AF, Huber AR, Munger J, Cravatt BF, Vasiliou V, Cole CL, DeNicola GM, Harris IS. Asantewaa G, et al. Among authors: dirksen rt. bioRxiv [Preprint]. 2023 Feb 11:2023.02.10.524960. doi: 10.1101/2023.02.10.524960. bioRxiv. 2023. Update in: Nat Commun. 2024 Jul 21;15(1):6152. doi: 10.1038/s41467-024-50454-2 PMID: 36798186 Free PMC article. Updated. Preprint.
Glutathione synthesis in the mouse liver supports lipid abundance through NRF2 repression.
Asantewaa G, Tuttle ET, Ward NP, Kang YP, Kim Y, Kavanagh ME, Girnius N, Chen Y, Rodriguez K, Hecht F, Zocchi M, Smorodintsev-Schiller L, Scales TQ, Taylor K, Alimohammadi F, Duncan RP, Sechrist ZR, Agostini-Vulaj D, Schafer XL, Chang H, Smith ZR, O'Connor TN, Whelan S, Selfors LM, Crowdis J, Gray GK, Bronson RT, Brenner D, Rufini A, Dirksen RT, Hezel AF, Huber AR, Munger J, Cravatt BF, Vasiliou V, Cole CL, DeNicola GM, Harris IS. Asantewaa G, et al. Among authors: dirksen rt. Nat Commun. 2024 Jul 21;15(1):6152. doi: 10.1038/s41467-024-50454-2. Nat Commun. 2024. PMID: 39034312 Free PMC article.
250 results