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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2014 6
2015 45
2016 52
2017 49
2018 57
2019 53
2020 50
2021 57
2022 35
2023 5
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344 results
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The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.
Almutawa W, Smith C, Sabouny R, Smit RB, Zhao T, Wong R, Lee-Glover L, Desrochers-Goyette J, Ilamathi HS; Care4Rare Canada Consortium; Suchowersky O, Germain M, Mains PE, Parboosingh JS, Pfeffer G, Innes AM, Shutt TE. Almutawa W, et al. EBioMedicine. 2019 Jul;45:379-392. doi: 10.1016/j.ebiom.2019.06.018. Epub 2019 Jun 21. EBioMedicine. 2019. PMID: 31231018 Free PMC article.
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Alecu JE, Brechmann B, Ziegler M, Eberhardt K, Jumo H, D'Amore A, Habibzadeh P, Faghihi MA, De Bleecker JL, Vuillaumier-Barrot S, Auvin S, Santorelli FM, Neuser S, Popp B, Yang E, Barrett L, Davies AK, Saffari A, Hirst J, Sahin M. Ebrahimi-Fakhari D, et al. Brain Commun. 2021 Sep 25;3(4):fcab221. doi: 10.1093/braincomms/fcab221. eCollection 2021. Brain Commun. 2021. PMID: 34729478 Free PMC article.
344 results