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Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.
Ebrahimi-Fakhari D, Alecu JE, Ziegler M, Geisel G, Jordan C, D'Amore A, Yeh RC, Akula SK, Saffari A, Prabhu SP, Sahin M, Yang E; International AP-4-HSP Registry and Natural History Study. Ebrahimi-Fakhari D, et al. Among authors: yang e. Neurology. 2021 Nov 9;97(19):e1942-e1954. doi: 10.1212/WNL.0000000000012836. Epub 2021 Sep 20. Neurology. 2021. PMID: 34544818 Free PMC article.
Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex.
Sánchez Fernández I, Yang E, Calvachi P, Amengual-Gual M, Wu JY, Krueger D, Northrup H, Bebin ME, Sahin M, Yu KH, Peters JM; TACERN Study Group. Sánchez Fernández I, et al. Among authors: yang e. PLoS One. 2020 Apr 29;15(4):e0232376. doi: 10.1371/journal.pone.0232376. eCollection 2020. PLoS One. 2020. PMID: 32348367 Free PMC article.
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Shao DD, Achkar CM, Lai A, Srivastava S, Doan RN, Rodan LH, Chen AY; Brain Development Study Group; Poduri A, Yang E, Walsh CA. Shao DD, et al. Among authors: yang e. Ann Neurol. 2020 Dec;88(6):1153-1164. doi: 10.1002/ana.25904. Epub 2020 Oct 8. Ann Neurol. 2020. PMID: 32959437 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. Among authors: yang e. Brain Commun. 2021 Sep 25;3(4):fcab221. doi: 10.1093/braincomms/fcab221. eCollection 2021. Brain Commun. 2021. PMID: 34729478 Free PMC article.
Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis.
Nijman M, Yang E, Jaimes C, Prohl AK, Sahin M, Krueger DA, Wu JY, Northrup H, Stone SSD, Madsen JR, Fallah A, Blount JP, Weiner HL, Grayson L, Bebin EM, Porter BE, Warfield SK, Prabhu SP, Peters JM; TACERN Study Group. Nijman M, et al. Among authors: yang e. J Neuroimaging. 2022 Sep;32(5):991-1000. doi: 10.1111/jon.13016. Epub 2022 Jun 21. J Neuroimaging. 2022. PMID: 35729081 Free PMC article.
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA. Qian X, et al. Among authors: yang e. Dev Cell. 2022 Oct 24;57(20):2381-2396.e13. doi: 10.1016/j.devcel.2022.09.011. Epub 2022 Oct 12. Dev Cell. 2022. PMID: 36228617 Free PMC article.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Among authors: yang e. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
Success of Nonsedated Neuroradiologic MRI in Children 1-7 Years Old.
Jaimes C, Robson CD, Machado-Rivas F, Yang E, Mahan K, Bixby SD, Robertson RL. Jaimes C, et al. Among authors: yang e. AJR Am J Roentgenol. 2021 May;216(5):1370-1377. doi: 10.2214/AJR.20.23654. Epub 2020 Aug 12. AJR Am J Roentgenol. 2021. PMID: 32783551
3,786 results