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286 results

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Page 1
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B. Pellerin D, et al. Among authors: akbarian s. Brain. 2024 Oct 8:awae312. doi: 10.1093/brain/awae312. Online ahead of print. Brain. 2024. PMID: 39378335
Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B. Pellerin D, et al. Among authors: akbarian s. medRxiv [Preprint]. 2024 Jul 3:2024.07.01.24309777. doi: 10.1101/2024.07.01.24309777. medRxiv. 2024. Update in: Brain. 2024 Oct 08:awae312. doi: 10.1093/brain/awae312. PMID: 39006414 Free PMC article. Updated. Preprint.
Author Correction: Transitioning sleeping position detection in late pregnancy using computer vision from controlled to real-world settings: an observational study.
Kember AJ, Zia H, Elangainesan P, Hsieh ME, Adijeh R, Li I, Ritchie L, Akbarian S, Taati B, Hobson SR, Dolatabadi E. Kember AJ, et al. Among authors: akbarian s. Sci Rep. 2024 Oct 17;14(1):24371. doi: 10.1038/s41598-024-75418-w. Sci Rep. 2024. PMID: 39420064 Free PMC article. No abstract available.
Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes.
Maury EA, Jones A, Seplyarskiy V, Nguyen TTL, Rosenbluh C, Bae T, Wang Y, Abyzov A, Khoshkhoo S, Chahine Y, Zhao S, Venkatesh S, Root E, Voloudakis G, Roussos P; Brain Somatic Mosaicism Network‡; Park PJ, Akbarian S, Brennand K, Reilly S, Lee EA, Sunyaev SR, Walsh CA, Chess A. Maury EA, et al. Among authors: akbarian s. Science. 2024 Oct 11;386(6718):217-224. doi: 10.1126/science.adq1456. Epub 2024 Oct 10. Science. 2024. PMID: 39388546 Free PMC article.
Nucleus accumbens myocyte enhancer factor 2C mediates the maintenance of peripheral nerve injury-induced physiological and behavioral maladaptations.
Serafini RA, Farzinpour Z, Patel V, Kelley AM, Estill M, Pryce KD, Sakloth F, Teague CD, Torres-Berrio A, Nestler EJ, Shen L, Akbarian S, Karkhanis AN, Blitzer RD, Zachariou V. Serafini RA, et al. Among authors: akbarian s. Pain. 2024 Jul 9. doi: 10.1097/j.pain.0000000000003316. Online ahead of print. Pain. 2024. PMID: 38985454
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: akbarian s. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. Nat Genet. 2024. PMID: 38937606
The single-cell opioid responses in the context of HIV (SCORCH) consortium.
Ament SA, Campbell RR, Lobo MK, Receveur JP, Agrawal K, Borjabad A, Byrareddy SN, Chang L, Clarke D, Emani P, Gabuzda D, Gaulton KJ, Giglio M, Giorgi FM, Gok B, Guda C, Hadas E, Herb BR, Hu W, Huttner A, Ishmam MR, Jacobs MM, Kelschenbach J, Kim DW, Lee C, Liu S, Liu X, Madras BK, Mahurkar AA, Mash DC, Mukamel EA, Niu M, O'Connor RM, Pagan CM, Pang APS, Pillai P, Repunte-Canonigo V, Ruzicka WB, Stanley J, Tickle T, Tsai SA, Wang A, Wills L, Wilson AM, Wright SN, Xu S, Yang J, Zand M, Zhang L, Zhang J, Akbarian S, Buch S, Cheng CS, Corley MJ, Fox HS, Gerstein M, Gummuluru S, Heiman M, Ho YC, Kellis M, Kenny PJ, Kluger Y, Milner TA, Moore DJ, Morgello S, Ndhlovu LC, Rana TM, Sanna PP, Satterlee JS, Sestan N, Spector SA, Spudich S, Tilgner HU, Volsky DJ, White OR, Williams DW, Zeng H. Ament SA, et al. Among authors: akbarian s. Mol Psychiatry. 2024 Jun 15. doi: 10.1038/s41380-024-02620-7. Online ahead of print. Mol Psychiatry. 2024. PMID: 38879719 Review.
Massively parallel characterization of regulatory elements in the developing human cortex.
Deng C, Whalen S, Steyert M, Ziffra R, Przytycki PF, Inoue F, Pereira DA, Capauto D, Norton S, Vaccarino FM; PsychENCODE Consortium‡; Pollen AA, Nowakowski TJ, Ahituv N, Pollard KS; PsychENCODE Consortium. Deng C, et al. Science. 2024 May 24;384(6698):eadh0559. doi: 10.1126/science.adh0559. Epub 2024 May 24. Science. 2024. PMID: 38781390
Single-cell multi-cohort dissection of the schizophrenia transcriptome.
Ruzicka WB, Mohammadi S, Fullard JF, Davila-Velderrain J, Subburaju S, Tso DR, Hourihan M, Jiang S, Lee HC, Bendl J; PsychENCODE Consortium§; Voloudakis G, Haroutunian V, Hoffman GE, Roussos P, Kellis M; PsychENCODE Consortium. Ruzicka WB, et al. Science. 2024 May 24;384(6698):eadg5136. doi: 10.1126/science.adg5136. Epub 2024 May 24. Science. 2024. PMID: 38781388
286 results