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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: bucelli rc. 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.
Myopathy with anti-HMGCR antibodies: Perimysium and myofiber pathology.
Alshehri A, Choksi R, Bucelli R, Pestronk A. Alshehri A, et al. Neurol Neuroimmunol Neuroinflamm. 2015 Jun 4;2(4):e124. doi: 10.1212/NXI.0000000000000124. eCollection 2015 Aug. Neurol Neuroimmunol Neuroinflamm. 2015. PMID: 26090508 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.
76 results