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Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model.
Donohue KJ, Fitzsimmons B, Bruntz RC, Markussen KH, Young LEA, Clarke HA, Coburn PT, Griffith LE, Sanders W, Klier J, Burke SN, Maurer AP, Minassian BA, Sun RC, Kordasiewisz HB, Gentry MS. Donohue KJ, et al. Among authors: minassian ba. Neurotherapeutics. 2023 Oct;20(6):1808-1819. doi: 10.1007/s13311-023-01434-9. Epub 2023 Sep 12. Neurotherapeutics. 2023. PMID: 37700152 Free PMC article.
Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-cage Behavior.
Krishnan V, Wu J, Mazumder AG, Kamen JL, Schirmer C, Adhyapak N, Bass JS, Lee SC, Maheshwari A, Molinaro G, Gibson JR, Huber KM, Minassian BA. Krishnan V, et al. Among authors: minassian ba. bioRxiv [Preprint]. 2023 Sep 13:2023.09.11.557226. doi: 10.1101/2023.09.11.557226. bioRxiv. 2023. PMID: 37745312 Free PMC article. Preprint.
Natural History of SURF1 Deficiency: A Retrospective Chart Review.
Khan TR, Leprince I, Messahel S, Minassian BA, Kayani S. Khan TR, et al. Among authors: minassian ba. Pediatr Neurol. 2023 Mar;140:40-46. doi: 10.1016/j.pediatrneurol.2022.12.002. Epub 2022 Dec 7. Pediatr Neurol. 2023. PMID: 36599233
GDE5/Gpcpd1 activity determines phosphatidylcholine composition in skeletal muscle and regulates contractile force in mice.
Aisyah R, Ohshima N, Watanabe D, Nakagawa Y, Sakuma T, Nitschke F, Nakamura M, Sato K, Nakahata K, Yokoyama C, Marchioni CR, Kumrungsee T, Shimizu T, Sotomaru Y, Takeo T, Nakagata N, Izumi T, Miura S, Minassian BA, Yamamoto T, Wada M, Yanaka N. Aisyah R, et al. Among authors: minassian ba. Commun Biol. 2024 May 20;7(1):604. doi: 10.1038/s42003-024-06298-z. Commun Biol. 2024. PMID: 38769369 Free PMC article.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Banks E, et al. Among authors: minassian ba. medRxiv [Preprint]. 2024 Jan 31:2022.08.23.22278845. doi: 10.1101/2022.08.23.22278845. medRxiv. 2024. PMID: 38352438 Free PMC article. Preprint.
205 results