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The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy.
Tapken I, Schweitzer T, Paganin M, Schüning T, Detering NT, Sharma G, Niesert M, Saffari A, Kuhn D, Glynn A, Cieri F, Santonicola P, Cannet C, Gerstner F, Faller KME, Huang YT, Kothary R, Gillingwater TH, Di Schiavi E, Simon CM, Hensel N, Ziegler A, Viero G, Pich A, Claus P. Tapken I, et al. Among authors: simon cm. Brain. 2024 Aug 26:awae272. doi: 10.1093/brain/awae272. Online ahead of print. Brain. 2024. PMID: 39183150
Dysfunction of proprioceptive sensory synapses is a pathogenic event and therapeutic target in mice and humans with spinal muscular atrophy.
Simon CM, Delestree N, Montes J, Gerstner F, Carranza E, Sowoidnich L, Buettner JM, Pagiazitis JG, Prat-Ortega G, Ensel S, Donadio S, Garcia JL, Kratimenos P, Chung WK, Sumner CJ, Weimer LH, Pirondini E, Capogrosso M, Pellizzoni L, De Vivo DC, Mentis GZ. Simon CM, et al. medRxiv [Preprint]. 2024 Jun 4:2024.06.03.24308132. doi: 10.1101/2024.06.03.24308132. medRxiv. 2024. PMID: 38883729 Free PMC article. Preprint.
Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation.
Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortés MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM, Sumner CJ. Kong L, et al. Among authors: simon cm. Acta Neuropathol Commun. 2023 Mar 30;11(1):53. doi: 10.1186/s40478-023-01551-8. Acta Neuropathol Commun. 2023. PMID: 36997967 Free PMC article.
88 results