Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31.
Nat Med. 2021.
PMID: 34059824
Free PMC article.
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
Lone MA, Aaltonen MJ, Zidell A, Pedro HF, Morales Saute JA, Mathew S, Mohassel P, Bönnemann CG, Shoubridge EA, Hornemann T.
Lone MA, et al. Among authors: zidell a.
J Clin Invest. 2022 Sep 15;132(18):e161908. doi: 10.1172/JCI161908.
J Clin Invest. 2022.
PMID: 35900868
Free PMC article.
Item in Clipboard
The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth.
Ghanny S, Zidell A, Pedro H, Joustra SD, Losekoot M, Wit JM, Aisenberg J.
Ghanny S, et al. Among authors: zidell a.
J Clin Res Pediatr Endocrinol. 2021 Nov 25;13(4):461-467. doi: 10.4274/jcrpe.galenos.2020.2020.0125. Epub 2020 Oct 13.
J Clin Res Pediatr Endocrinol. 2021.
PMID: 33045800
Free PMC article.
Item in Clipboard
Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients.
Schwartz MD, Peshkin BN, Isaacs C, Willey S, Valdimarsdottir HB, Nusbaum R, Hooker G, O'Neill S, Jandorf L, Kelly SP, Heinzmann J, Zidell A, Khoury K.
Schwartz MD, et al. Among authors: zidell a.
Breast Cancer Res Treat. 2018 Aug;170(3):517-524. doi: 10.1007/s10549-018-4773-3. Epub 2018 Apr 2.
Breast Cancer Res Treat. 2018.
PMID: 29611029
Free PMC article.
Clinical Trial.
Item in Clipboard
IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.
Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO, Bernard DJ, Fliers E, van Trotsenburg AS, Losekoot M, Persani L, Wit JM, Biermasz NR, Pereira AM, Oostdijk W; IGSF1 Clinical Care Group.
Joustra SD, et al.
J Clin Endocrinol Metab. 2016 Apr;101(4):1627-36. doi: 10.1210/jc.2015-3880. Epub 2016 Feb 3.
J Clin Endocrinol Metab. 2016.
PMID: 26840047
Free PMC article.
Item in Clipboard
Cite
Cite