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Intermediate filament dysregulation in astrocytes in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN).
Battaglia R, Faridounnia M, Beltran A, Robinson J, Kinghorn K, Ezzell JA, Bharucha-Goebel D, Bonnemann C, Hooper JE, Opal P, Bouldin TW, Armao D, Snider N. Battaglia R, et al. Among authors: faridounnia m. Mol Biol Cell. 2023 Sep 6;34(12):mbcE23030094. doi: 10.1091/mbc.E23-03-0094. Online ahead of print. Mol Biol Cell. 2023. PMID: 37672338 Free PMC article.
Intermediate filament dysregulation and astrocytopathy in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN).
Battaglia R, Faridounnia M, Beltran A, Robinson J, Kinghorn K, Ezzell JA, Bharucha-Goebel D, Bonnemann C, Hooper JE, Opal P, Bouldin TW, Armao D, Snider N. Battaglia R, et al. Among authors: faridounnia m. bioRxiv [Preprint]. 2023 Mar 14:2023.03.13.532440. doi: 10.1101/2023.03.13.532440. bioRxiv. 2023. PMID: 36993491 Free PMC article. Updated. Preprint.
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Niedernhofer LJ, Oshima J. Mori T, et al. Among authors: faridounnia m. Hum Mutat. 2018 Feb;39(2):255-265. doi: 10.1002/humu.23367. Epub 2017 Nov 17. Hum Mutat. 2018. PMID: 29105242 Free PMC article.