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Acid Sphingomyelinase Deficiency.
Wasserstein MP, Schuchman EH. Wasserstein MP, et al. Among authors: schuchman eh. 2006 Dec 7 [updated 2023 Apr 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Dec 7 [updated 2023 Apr 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301544 Free Books & Documents. Review.
Immunotherapy targeting plasma ASM is protective in a mouse model of Alzheimer's disease.
Choi BJ, Park MH, Park KH, Han WH, Yoon HJ, Jung HY, Hong JY, Chowdhury MR, Kim KY, Lee J, Song IS, Pang M, Choi MK, Gulbins E, Reichel M, Kornhuber J, Hong CW, Kim C, Kim SH, Schuchman EH, Jin HK, Bae JS. Choi BJ, et al. Among authors: schuchman eh. Nat Commun. 2023 Mar 24;14(1):1631. doi: 10.1038/s41467-023-37316-z. Nat Commun. 2023. PMID: 36959217 Free PMC article.
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Lee MM, McDowell GSV, De Vivo DC, Friedman D, Berkovic SF, Spanou M, Dinopoulos A, Grand K, Sanchez-Lara PA, Allen-Sharpley M, Warman-Chardon J, Solyom A, Levade T, Schuchman EH, Bennett SAL, Dyment DA, Pearson TS. Lee MM, et al. Among authors: schuchman eh. Ann Clin Transl Neurol. 2022 Dec;9(12):1941-1952. doi: 10.1002/acn3.51687. Epub 2022 Nov 3. Ann Clin Transl Neurol. 2022. PMID: 36325744 Free PMC article. Review.
232 results