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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.
Variation in cognitive function over time in Gaucher disease type 3.
Steward AM, Wiggs E, Lindstrom T, Ukwuani S, Ryan E, Tayebi N, Roshan Lal T, Lopez G, Schiffmann R, Sidransky E. Steward AM, et al. Among authors: schiffmann r. Neurology. 2019 Dec 10;93(24):e2272-e2283. doi: 10.1212/WNL.0000000000008618. Epub 2019 Nov 12. Neurology. 2019. PMID: 31719137 Free PMC article.
Parkinsonism among Gaucher disease carriers.
Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Goker-Alpan O, et al. Among authors: schiffmann r. J Med Genet. 2004 Dec;41(12):937-40. doi: 10.1136/jmg.2004.024455. J Med Genet. 2004. PMID: 15591280 Free PMC article.
Randomized, controlled trial of miglustat in Gaucher's disease type 3.
Schiffmann R, Fitzgibbon EJ, Harris C, DeVile C, Davies EH, Abel L, van Schaik IN, Benko W, Timmons M, Ries M, Vellodi A. Schiffmann R, et al. Ann Neurol. 2008 Nov;64(5):514-22. doi: 10.1002/ana.21491. Ann Neurol. 2008. PMID: 19067373 Free PMC article. Clinical Trial.
The saccadic and neurological deficits in type 3 Gaucher disease.
Benko W, Ries M, Wiggs EA, Brady RO, Schiffmann R, Fitzgibbon EJ. Benko W, et al. Among authors: schiffmann r. PLoS One. 2011;6(7):e22410. doi: 10.1371/journal.pone.0022410. Epub 2011 Jul 20. PLoS One. 2011. PMID: 21799847 Free PMC article. Clinical Trial.
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