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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. 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.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
CSF and Blood Levels of GFAP in Alexander Disease.
Jany PL, Agosta GE, Benko WS, Eickhoff JC, Keller SR, Köehler W, Koeller D, Mar S, Naidu S, Marie Ness J, Pareyson D, Renaud DL, Salsano E, Schiffmann R, Simon J, Vanderver A, Eichler F, van der Knaap MS, Messing A. Jany PL, et al. Among authors: benko ws. eNeuro. 2015 Oct 1;2(5):ENEURO.0080-15.2015. doi: 10.1523/ENEURO.0080-15.2015. eCollection 2015 Sep. eNeuro. 2015. PMID: 26478912 Free PMC article.
15 results