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West syndrome caused by ST3Gal-III deficiency.
Edvardson S, Baumann AM, Mühlenhoff M, Stephan O, Kuss AW, Shaag A, He L, Zenvirt S, Tanzi R, Gerardy-Schahn R, Elpeleg O. Edvardson S, et al. Among authors: elpeleg o. Epilepsia. 2013 Feb;54(2):e24-7. doi: 10.1111/epi.12050. Epub 2012 Dec 17. Epilepsia. 2013. PMID: 23252400 Free article.
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency.
van Diepen L, Buettner FFR, Hoffmann D, Thiesler CT, von Bohlen Und Halbach O, von Bohlen Und Halbach V, Jensen LR, Steinemann D, Edvardson S, Elpeleg O, Schambach A, Gerardy-Schahn R, Kuss AW. van Diepen L, et al. Among authors: elpeleg o. Eur J Hum Genet. 2018 Dec;26(12):1773-1783. doi: 10.1038/s41431-018-0220-5. Epub 2018 Aug 8. Eur J Hum Genet. 2018. PMID: 30089820 Free PMC article.
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.
Edvardson S, Cinnamon Y, Ta-Shma A, Shaag A, Yim YI, Zenvirt S, Jalas C, Lesage S, Brice A, Taraboulos A, Kaestner KH, Greene LE, Elpeleg O. Edvardson S, et al. Among authors: elpeleg o. PLoS One. 2012;7(5):e36458. doi: 10.1371/journal.pone.0036458. Epub 2012 May 1. PLoS One. 2012. PMID: 22563501 Free PMC article.
309 results