Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

126 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.
Romano G, Riccardi F, Bussani E, Vodret S, Licastro D, Ragone I, Ronzitti G, Morini E, Slaugenhaupt SA, Pagani F. Romano G, et al. Among authors: slaugenhaupt sa. Am J Hum Genet. 2022 Aug 4;109(8):1534-1548. doi: 10.1016/j.ajhg.2022.07.004. Epub 2022 Jul 28. Am J Hum Genet. 2022. PMID: 35905737 Free PMC article.
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.
Morini E, Dietrich P, Salani M, Downs HM, Wojtkiewicz GR, Alli S, Brenner A, Nilbratt M, LeClair JW, Oaklander AL, Slaugenhaupt SA, Dragatsis I. Morini E, et al. Among authors: slaugenhaupt sa. Hum Mol Genet. 2016 Mar 15;25(6):1116-28. doi: 10.1093/hmg/ddv634. Epub 2016 Jan 13. Hum Mol Genet. 2016. PMID: 26769677 Free PMC article.
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA. Morini E, et al. Among authors: slaugenhaupt sa. Am J Hum Genet. 2019 Apr 4;104(4):638-650. doi: 10.1016/j.ajhg.2019.02.009. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905397 Free PMC article.
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.
Morini E, Gao D, Logan EM, Salani M, Krauson AJ, Chekuri A, Chen YT, Ragavendran A, Chakravarty P, Erdin S, Stortchevoi A, Svejstrup JQ, Talkowski ME, Slaugenhaupt SA. Morini E, et al. Among authors: slaugenhaupt sa. J Genet Genomics. 2022 Jul;49(7):654-665. doi: 10.1016/j.jgg.2021.11.011. Epub 2021 Dec 9. J Genet Genomics. 2022. PMID: 34896608 Free PMC article.
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.
Familial dysautonomia.
Slaugenhaupt SA, Gusella JF. Slaugenhaupt SA, et al. Curr Opin Genet Dev. 2002 Jun;12(3):307-11. doi: 10.1016/s0959-437x(02)00303-9. Curr Opin Genet Dev. 2002. PMID: 12076674 Review.
126 results