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PGC-1alpha deficiency causes multi-system energy metabolic derangements: muscle dysfunction, abnormal weight control and hepatic steatosis.
Leone TC, Lehman JJ, Finck BN, Schaeffer PJ, Wende AR, Boudina S, Courtois M, Wozniak DF, Sambandam N, Bernal-Mizrachi C, Chen Z, Holloszy JO, Medeiros DM, Schmidt RE, Saffitz JE, Abel ED, Semenkovich CF, Kelly DP. Leone TC, et al. Among authors: schmidt re. PLoS Biol. 2005 Apr;3(4):e101. doi: 10.1371/journal.pbio.0030101. Epub 2005 Mar 15. PLoS Biol. 2005. PMID: 15760270 Free PMC article.
JC virus granule cell neuronopathy in the setting of chronic lymphopenia treated with recombinant interleukin-7.
Soleimani-Meigooni DN, Schwetye KE, Angeles MR, Ryschkewitsch CF, Major EO, Dang X, Koralnik IJ, Schmidt RE, Clifford DB, Kuhlmann FM, Bucelli RC. Soleimani-Meigooni DN, et al. Among authors: schmidt re. J Neurovirol. 2017 Feb;23(1):141-146. doi: 10.1007/s13365-016-0465-0. Epub 2016 Jul 15. J Neurovirol. 2017. PMID: 27421731 Free PMC article.
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R. Wambach JA, et al. Among authors: schmidt re. Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17. Hum Mutat. 2017. PMID: 28726266 Free PMC article.
Immune myopathy with large histiocyte-related myofiber necrosis.
Pestronk A, Sinha N, Alhumayyd Z, Ly C, Schmidt R, Bucelli R. Pestronk A, et al. Neurology. 2019 Apr 9;92(15):e1763-e1772. doi: 10.1212/WNL.0000000000007260. Epub 2019 Mar 20. Neurology. 2019. PMID: 30894448 Free PMC article.
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S; Members of Undiagnosed Diseases Network; Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ. Chung HL, et al. Among authors: schmidt re. Neuron. 2020 May 20;106(4):589-606.e6. doi: 10.1016/j.neuron.2020.02.021. Epub 2020 Mar 12. Neuron. 2020. PMID: 32169171 Free PMC article.
868 results