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Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.
Breen MS, Fan X, Levy T, Pollak RM, Collins B, Osman A, Tocheva AS, Sahin M, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Kolevzon A, Buxbaum JD; Developmental Synaptopathies Consortium. Breen MS, et al. HGG Adv. 2022 Sep 26;4(1):100145. doi: 10.1016/j.xhgg.2022.100145. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36276299 Free PMC article.
Behavioral Outcomes and Neurodevelopmental Disorders Among Children of Women With Epilepsy.
Cohen MJ, Meador KJ, Loring DW, Matthews AG, Brown C, Robalino CP, Birnbaum AK, Voinescu PE, Kalayjian LA, Gerard EE, Gedzelman ER, Hanna J, Cavitt J, Sam MC, French JA, Hwang ST, Pack AM, Pennell PB; Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs (MONEAD) Investigator Group. Cohen MJ, et al. JAMA Neurol. 2024 Jan 1;81(1):19-29. doi: 10.1001/jamaneurol.2023.4315. JAMA Neurol. 2024. PMID: 37983058
Methanococcus maripaludis.
Abdul Halim MF, Hanson EH, Costa KC. Abdul Halim MF, et al. Among authors: hanson eh. Trends Microbiol. 2024 May 3:S0966-842X(24)00092-1. doi: 10.1016/j.tim.2024.04.007. Online ahead of print. Trends Microbiol. 2024. PMID: 38702257 No abstract available.
Neurophysiological outcomes that sustained clinically significant improvements over 3 years of physiologic ECAP-controlled closed-loop spinal cord stimulation for the treatment of chronic pain.
Mekhail NA, Levy RM, Deer TR, Kapural L, Li S, Amirdelfan K, Hunter CW, Rosen SM, Costandi SJ, Falowski SM, Burgher AH, Pope JE, Gilmore CA, Qureshi FA, Staats PS, Scowcroft J, McJunkin T, Kim CK, Yang MI, Stauss T, Rauck R, Duarte RV, Soliday N, Leitner A, Hanson E, Ouyang Z, Mugan D, Poree L. Mekhail NA, et al. Among authors: hanson e. Reg Anesth Pain Med. 2024 Mar 15:rapm-2024-105370. doi: 10.1136/rapm-2024-105370. Online ahead of print. Reg Anesth Pain Med. 2024. PMID: 38490687
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, García-Cazorla À, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. Tokatly Latzer I, et al. Among authors: hanson e. Mol Genet Metab. 2024 May;142(1):108363. doi: 10.1016/j.ymgme.2024.108363. Epub 2024 Mar 4. Mol Genet Metab. 2024. PMID: 38452608
708 results