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Identification of the gene causing mucolipidosis type IV.
Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G. Bargal R, et al. Among authors: frumkin a. Nat Genet. 2000 Sep;26(1):118-23. doi: 10.1038/79095. Nat Genet. 2000. PMID: 10973263
TRPML and lysosomal function.
Zeevi DA, Frumkin A, Bach G. Zeevi DA, et al. Among authors: frumkin a. Biochim Biophys Acta. 2007 Aug;1772(8):851-8. doi: 10.1016/j.bbadis.2007.01.004. Epub 2007 Jan 19. Biochim Biophys Acta. 2007. PMID: 17306511 Review.
Mucolipidosis type IV and the mucolipins.
Bach G, Zeevi DA, Frumkin A, Kogot-Levin A. Bach G, et al. Among authors: frumkin a. Biochem Soc Trans. 2010 Dec;38(6):1432-5. doi: 10.1042/BST0381432. Biochem Soc Trans. 2010. PMID: 21118102
A human laterality disorder associated with a homozygous WDR16 deletion.
Ta-Shma A, Perles Z, Yaacov B, Werner M, Frumkin A, Rein AJ, Elpeleg O. Ta-Shma A, et al. Among authors: frumkin a. Eur J Hum Genet. 2015 Sep;23(9):1262-5. doi: 10.1038/ejhg.2014.265. Epub 2014 Dec 3. Eur J Hum Genet. 2015. PMID: 25469542 Free PMC article.
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
Edvardson S, Porcelli V, Jalas C, Soiferman D, Kellner Y, Shaag A, Korman SH, Pierri CL, Scarcia P, Fraenkel ND, Segel R, Schechter A, Frumkin A, Pines O, Saada A, Palmieri L, Elpeleg O. Edvardson S, et al. Among authors: frumkin a. J Med Genet. 2013 Apr;50(4):240-5. doi: 10.1136/jmedgenet-2012-101485. Epub 2013 Feb 7. J Med Genet. 2013. PMID: 23393310
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