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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2013 | 2 |
2015 | 2 |
2018 | 1 |
2019 | 2 |
2020 | 1 |
2023 | 0 |
PubMed for id: 1780127
7 results
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Page 1
A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene.
BMC Med Genet. 2020 Jun 8;21(1):126. doi: 10.1186/s12881-020-01060-8.
BMC Med Genet. 2020.
PMID: 32513120
Free PMC article.
Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.
de Jesus AA, Brehm A, VanTries R, Pillet P, Parentelli AS, Montealegre Sanchez GA, Deng Z, Paut IK, Goldbach-Mansky R, Krüger E.
de Jesus AA, et al.
J Allergy Clin Immunol. 2019 May;143(5):1939-1943.e8. doi: 10.1016/j.jaci.2018.12.1012. Epub 2019 Jan 18.
J Allergy Clin Immunol. 2019.
PMID: 30664889
Free PMC article.
Item in Clipboard
New data in causes of autoinflammatory diseases.
Kone-Paut I, Georgin-Laviallec S, Galeotti C, Rossi-Semerano L, Hentgen V, Savey L, Saadoun D, Sarrabay G, Touitou I.
Kone-Paut I, et al.
Joint Bone Spine. 2019 Oct;86(5):554-561. doi: 10.1016/j.jbspin.2018.11.003. Epub 2018 Nov 22.
Joint Bone Spine. 2019.
PMID: 30471422
Review.
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Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R.
Brehm A, et al.
J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20.
J Clin Invest. 2015.
PMID: 26524591
Free PMC article.
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[Type I interferonopathies].
Munoz J, Marque M, Dandurand M, Meunier L, Crow YJ, Bessis D.
Munoz J, et al.
Ann Dermatol Venereol. 2015 Nov;142(11):653-63. doi: 10.1016/j.annder.2015.06.018. Epub 2015 Sep 9.
Ann Dermatol Venereol. 2015.
PMID: 26363997
French.
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Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.
Sanchez GA, de Jesus AA, Goldbach-Mansky R.
Sanchez GA, et al.
Rheum Dis Clin North Am. 2013 Nov;39(4):701-34. doi: 10.1016/j.rdc.2013.08.001. Epub 2013 Sep 21.
Rheum Dis Clin North Am. 2013.
PMID: 24182851
Free PMC article.
Review.
Item in Clipboard
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Almeida de Jesus A, Goldbach-Mansky R.
Almeida de Jesus A, et al.
Clin Immunol. 2013 Jun;147(3):155-74. doi: 10.1016/j.clim.2013.03.016. Epub 2013 Apr 9.
Clin Immunol. 2013.
PMID: 23711932
Free PMC article.
Review.
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