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Identification of the first non-Jewish mutation in familial Dysautonomia.
Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA. Leyne M, et al. Among authors: slaugenhaupt sa. Am J Med Genet A. 2003 May 1;118A(4):305-8. doi: 10.1002/ajmg.a.20052. Am J Med Genet A. 2003. PMID: 12687659
Hereditary dysautonomias: current knowledge and collaborations for the future.
Cuajungco MP, Ando Y, Axelrod FB, Biaggioni I, Goldstein DS, Guttmacher AE, Gwinn-Hardy K, Hahn MK, Hilz MJ, Jacob G, Jens J, Kennedy WR, Liggett SB, O'Connor DT, Peltzer SR, Robertson D, Rubin BY, Scudder Q, Smith LJ, Sonenshein GE, Svejstrup JQ, Xu Y, Slaugenhaupt SA. Cuajungco MP, et al. Among authors: slaugenhaupt sa. Clin Auton Res. 2003 Jun;13(3):180-95. doi: 10.1007/s10286-003-0098-2. Clin Auton Res. 2003. PMID: 12822040 Review.
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF. Slaugenhaupt SA, et al. Am J Hum Genet. 2001 Mar;68(3):598-605. doi: 10.1086/318810. Epub 2001 Jan 22. Am J Hum Genet. 2001. PMID: 11179008 Free PMC article.
Progress in elucidating pathophysiology of mucolipidosis IV.
Misko A, Wood L, Kiselyov K, Slaugenhaupt S, Grishchuk Y. Misko A, et al. Neurosci Lett. 2021 Jun 11;755:135944. doi: 10.1016/j.neulet.2021.135944. Epub 2021 May 11. Neurosci Lett. 2021. PMID: 33965501 Free PMC article.
127 results