SEARCH

SEARCH BY CITATION

References

  • Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, Kim PW, Sheikh A, Lee CC, Chen Y, Vera A, Zhang X, Goldbach-Mansky R, Zlotogorski A. 2011. Mutations in PSMB8 cause CANDLE syndrome with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. E-pub ahead of print. 10.1002/art.33368.
  • Torrelo A, Patel S, Colmenero I, Gurbindo D, Lendínez F, Hernández A, López-Robledillo JC, Dadban A, Requena L, Paler A. 2010. Chronic atypical neutrophilic dermatosis with lipodystro-phy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol. 62:489495.
  • Garg A, Hernandez MD, Sousa AB, Subramanyam L, Martínez de Villarreal L, dos Santos HG, Barboza O. 2010. An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystro-phy. J Clin Endocrinol Metab. 95(9):E58E63.
  • Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M, Toyoshima Y, Takahashi H, Standley DM, Tanaka K, Hamazaki J, Murata S, Obara K, Toyoshima I, Yasutomo K. 2011. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammationand lipodystro-phy in humans. J Clin Invest. 121(10):415041605.
  • Arima K, Kinoshitab A, Mishimab H, Kanazawac N, Kanekod T, Mizushimae T, Ichinosea K, Nakamuraa H, Tsujinof A, Kawakamia A, Matsunakac M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K. 2011. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. PNAS. 108:491414919.
  • Ramot Y, Czarnowicki T, Maly A, Navon-Elkan P, Zlotgorski A. 2011. Chronic atypical neutrophlic dermatosis with lipodystorpy and elevated temperature syndrome: A case report. Pediatr Dematol. 28:538541.