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Synaptic imbalance and increased inhibition impair motor function in SMA.
Fletcher EV, Chalif JI, Rotterman TM, Pagiazitis JG, Alstyne MV, Sivakumar N, Rabinowitz JE, Pellizzoni L, Alvarez FJ, Mentis GZ. Fletcher EV, et al. bioRxiv [Preprint]. 2024 Sep 1:2024.08.30.610545. doi: 10.1101/2024.08.30.610545. bioRxiv. 2024. PMID: 39257773 Free PMC article. Preprint.
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.