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Page 1
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: ernst am. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
Normative Magnetic Resonance Imaging Data Increase the Sensitivity to Brain Volume Abnormalities in the Classification of Fetal Alcohol Spectrum Disorder.
Gimbel BA, Roediger DJ, Ernst AM, Anthony ME, Mueller BA, de Water E, Rockhold MN; Collaborative Initiative on Fetal Alcohol Spectrum Disorders; Wozniak JR. Gimbel BA, et al. Among authors: ernst am. J Pediatr. 2024 Mar;266:113868. doi: 10.1016/j.jpeds.2023.113868. Epub 2023 Dec 6. J Pediatr. 2024. PMID: 38065282
Nanoscale patterning of collagens in C. elegans apical extracellular matrix.
Adams JRG, Pooranachithra M, Jyo EM, Zheng SL, Goncharov A, Crew JR, Kramer JM, Jin Y, Ernst AM, Chisholm AD. Adams JRG, et al. Among authors: ernst am. Nat Commun. 2023 Nov 18;14(1):7506. doi: 10.1038/s41467-023-43058-9. Nat Commun. 2023. PMID: 37980413 Free PMC article.
Roles for diacylglycerol in synaptic vesicle priming and release revealed by complete reconstitution of core protein machinery.
Kalyana Sundaram RV, Chatterjee A, Bera M, Grushin K, Panda A, Li F, Coleman J, Lee S, Ramakrishnan S, Ernst AM, Gupta K, Rothman JE, Krishnakumar SS. Kalyana Sundaram RV, et al. Among authors: ernst am. Proc Natl Acad Sci U S A. 2023 Aug 22;120(34):e2309516120. doi: 10.1073/pnas.2309516120. Epub 2023 Aug 17. Proc Natl Acad Sci U S A. 2023. PMID: 37590407 Free PMC article.
Novel Roles for Diacylglycerol in Synaptic Vesicle Priming and Release Revealed by Complete Reconstitution of Core Protein Machinery.
Sundaram RVK, Chatterjee A, Bera M, Grushin K, Panda A, Li F, Coleman J, Lee S, Ramakrishnan S, Ernst AM, Gupta K, Rothman JE, Krishnakumar SS. Sundaram RVK, et al. Among authors: ernst am. bioRxiv [Preprint]. 2023 Jun 7:2023.06.05.543781. doi: 10.1101/2023.06.05.543781. bioRxiv. 2023. PMID: 37333317 Free PMC article. Updated. Preprint.
Atypical developmental trajectories of white matter microstructure in prenatal alcohol exposure: Preliminary evidence from neurite orientation dispersion and density imaging.
Gimbel BA, Roediger DJ, Ernst AM, Anthony ME, de Water E, Rockhold MN, Mueller BA, Mattson SN, Jones KL, Riley EP, Lim KO; CIFASD; Wozniak JR. Gimbel BA, et al. Among authors: ernst am. Front Neurosci. 2023 Apr 24;17:1172010. doi: 10.3389/fnins.2023.1172010. eCollection 2023. Front Neurosci. 2023. PMID: 37168930 Free PMC article.
Delayed cortical thinning in children and adolescents with prenatal alcohol exposure.
Gimbel BA, Roediger DJ, Ernst AM, Anthony ME, de Water E, Mueller BA, Rockhold MN, Schumacher MJ, Mattson SN, Jones KL, Lim KO, Wozniak JR. Gimbel BA, et al. Among authors: ernst am. Alcohol Clin Exp Res (Hoboken). 2023 Jul;47(7):1312-1326. doi: 10.1111/acer.15096. Epub 2023 May 8. Alcohol Clin Exp Res (Hoboken). 2023. PMID: 37132064
59 results