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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: cinnamon y. PLoS One. 2012;7(5):e36458. doi: 10.1371/journal.pone.0036458. Epub 2012 May 1. PLoS One. 2012. PMID: 22563501 Free PMC article.
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.
Maor-Sagie E, Cinnamon Y, Yaacov B, Shaag A, Goldsmidt H, Zenvirt S, Laufer N, Richler C, Frumkin A. Maor-Sagie E, et al. Among authors: cinnamon y. J Assist Reprod Genet. 2015 Jun;32(6):887-91. doi: 10.1007/s10815-015-0445-y. Epub 2015 Apr 22. J Assist Reprod Genet. 2015. PMID: 25899990 Free PMC article.
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. Boczonadi V, et al. Among authors: cinnamon y. Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287. Nat Commun. 2014. PMID: 24989451 Free PMC article.
37 results