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266 related items for PubMed ID: 29276154
1. Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs. Shi L, Huang L, He R, Huang W, Wang H, Lai X, Zou Z, Sun J, Ke Q, Zheng M, Lu X, Pei Z, Su H, Xiang AP, Li W, Yao X. Stem Cell Reports; 2018 Jan 09; 10(1):120-133. PubMed ID: 29276154 [Abstract] [Full Text] [Related]
4. Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication. Liu X, Ishikawa KI, Hattori N, Akamatsu W. Stem Cell Res; 2024 Jun 09; 77():103401. PubMed ID: 38537501 [Abstract] [Full Text] [Related]
5. Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies. Hanemann CO, Stoll G, D'Urso D, Fricke W, Martin JJ, Van Broeckhoven C, Mancardi GL, Bartke I, Müller HW. J Neurosci Res; 1994 Apr 01; 37(5):654-9. PubMed ID: 8028042 [Abstract] [Full Text] [Related]
12. PMP22 expression in dermal nerve myelin from patients with CMT1A. Katona I, Wu X, Feely SM, Sottile S, Siskind CE, Miller LJ, Shy ME, Li J. Brain; 2009 Jul 01; 132(Pt 7):1734-40. PubMed ID: 19447823 [Abstract] [Full Text] [Related]
13. Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice. Lee JS, Lee JY, Song DW, Bae HS, Doo HM, Yu HS, Lee KJ, Kim HK, Hwang H, Kwak G, Kim D, Kim S, Hong YB, Lee JM, Choi BO. Nucleic Acids Res; 2020 Jan 10; 48(1):130-140. PubMed ID: 31713617 [Abstract] [Full Text] [Related]
14. Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A. Nishimura T, Yoshikawa H, Fujimura H, Sakoda S, Yanagihara T. Acta Neuropathol; 1996 Nov 10; 92(5):454-60. PubMed ID: 8922056 [Abstract] [Full Text] [Related]
15. P2X7-mediated increased intracellular calcium causes functional derangement in Schwann cells from rats with CMT1A neuropathy. Nobbio L, Sturla L, Fiorese F, Usai C, Basile G, Moreschi I, Benvenuto F, Zocchi E, De Flora A, Schenone A, Bruzzone S. J Biol Chem; 2009 Aug 21; 284(34):23146-58. PubMed ID: 19546221 [Abstract] [Full Text] [Related]
16. Tolerability and efficacy study of P2X7 inhibition in experimental Charcot-Marie-Tooth type 1A (CMT1A) neuropathy. Sociali G, Visigalli D, Prukop T, Cervellini I, Mannino E, Venturi C, Bruzzone S, Sereda MW, Schenone A. Neurobiol Dis; 2016 Nov 21; 95():145-57. PubMed ID: 27431093 [Abstract] [Full Text] [Related]
17. AAV-mediated editing of PMP22 rescues Charcot-Marie-Tooth disease type 1A features in patient-derived iPS Schwann cells. Yoshioka Y, Taniguchi JB, Homma H, Tamura T, Fujita K, Inotsume M, Tagawa K, Misawa K, Matsumoto N, Nakagawa M, Inoue H, Tanaka H, Okazawa H. Commun Med (Lond); 2023 Nov 28; 3(1):170. PubMed ID: 38017287 [Abstract] [Full Text] [Related]
18. Charcot-Marie-Tooth disease and related inherited neuropathies. Murakami T, Garcia CA, Reiter LT, Lupski JR. Medicine (Baltimore); 1996 Sep 28; 75(5):233-50. PubMed ID: 8862346 [Abstract] [Full Text] [Related]