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Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease.
Pewzner-Jung Y, Joseph T, Blumenreich S, Vardi A, Ferreira NS, Cho SM, Eilam R, Tsoory M, Biton IE, Brumfeld V, Haffner-Krausz R, Brenner O, Sharabi N, Addadi Y, Salame TM, Rotkopf R, Wigoda N, Yayon N, Merrill AH Jr, Schiffmann R, Futerman AH. Pewzner-Jung Y, et al. Among authors: schiffmann r. Prog Neurobiol. 2021 Feb;197:101939. doi: 10.1016/j.pneurobio.2020.101939. Epub 2020 Nov 3. Prog Neurobiol. 2021. PMID: 33152398
The definition of neuronopathic Gaucher disease.
Schiffmann R, Sevigny J, Rolfs A, Davies EH, Goker-Alpan O, Abdelwahab M, Vellodi A, Mengel E, Lukina E, Yoo HW, Collin-Histed T, Narita A, Dinur T, Revel-Vilk S, Arkadir D, Szer J, Wajnrajch M, Ramaswami U, Sidransky E, Donald A, Zimran A. Schiffmann R, et al. J Inherit Metab Dis. 2020 Sep;43(5):1056-1059. doi: 10.1002/jimd.12235. Epub 2020 Apr 3. J Inherit Metab Dis. 2020. PMID: 32242941 Free PMC article.
Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.
Chan A, Holleran WM, Ferguson T, Crumrine D, Goker-Alpan O, Schiffmann R, Tayebi N, Ginns EI, Elias PM, Sidransky E. Chan A, et al. Among authors: schiffmann r. Mol Genet Metab. 2011 Dec;104(4):631-6. doi: 10.1016/j.ymgme.2011.09.008. Epub 2011 Sep 16. Mol Genet Metab. 2011. PMID: 21982627 Free PMC article.
Gaucher disease: Progress and ongoing challenges.
Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E. Mistry PK, et al. Among authors: schiffmann r. Mol Genet Metab. 2017 Jan-Feb;120(1-2):8-21. doi: 10.1016/j.ymgme.2016.11.006. Epub 2016 Nov 17. Mol Genet Metab. 2017. PMID: 27916601 Free PMC article. Review.
322 results