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Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.
Cheng C, Cleak J, Weiss L, Cater H, Stewart M, Wells S, Columbres RC, Shmara A, Morato Torres CA, Zafar F, Schüle B, Neumann J, Hatchwell E, Kimonis V. Cheng C, et al. Among authors: kimonis v. Orphanet J Rare Dis. 2022 Oct 24;17(1):386. doi: 10.1186/s13023-022-02446-y. Orphanet J Rare Dis. 2022. PMID: 36280881 Free PMC article.
New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy.
Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V. Al-Tahan S, et al. Among authors: kimonis v. Neurol Genet. 2019 Jul 10;5(4):e349. doi: 10.1212/NXG.0000000000000349. eCollection 2019 Aug. Neurol Genet. 2019. PMID: 31403083 Free PMC article.
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS. Kimonis V, et al. J Med Genet. 2021 May;58(5):314-325. doi: 10.1136/jmedgenet-2020-106846. Epub 2020 Jun 9. J Med Genet. 2021. PMID: 32518176 Free article. Review.
A p97/Valosin-Containing Protein Inhibitor Drug CB-5083 Has a Potent but Reversible Off-Target Effect on Phosphodiesterase-6.
Leinonen H, Cheng C, Pitkänen M, Sander CL, Zhang J, Saeid S, Turunen T, Shmara A, Weiss L, Ta L, Ton T, Koskelainen A, Vargas JD, Kimonis V, Palczewski K. Leinonen H, et al. Among authors: kimonis v. J Pharmacol Exp Ther. 2021 Jul;378(1):31-41. doi: 10.1124/jpet.120.000486. Epub 2021 Apr 30. J Pharmacol Exp Ther. 2021. PMID: 33931547 Free PMC article.
221 results