Schiffmann R - Search Results

1

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

2

Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms.

Lloyd-Evans E, Pelled D, Riebeling C, Bodennec J, de-Morgan A, Waller H, Schiffmann R, Futerman AH. Lloyd-Evans E, et al. Among authors: schiffmann r. J Biol Chem. 2003 Jun 27;278(26):23594-9. doi: 10.1074/jbc.M300212200. Epub 2003 Apr 22. J Biol Chem. 2003. PMID: 12709427 Free article.

3

Enhanced calcium release in the acute neuronopathic form of Gaucher disease.

Pelled D, Trajkovic-Bodennec S, Lloyd-Evans E, Sidransky E, Schiffmann R, Futerman AH. Pelled D, et al. Among authors: schiffmann r. Neurobiol Dis. 2005 Feb;18(1):83-8. doi: 10.1016/j.nbd.2004.09.004. Neurobiol Dis. 2005. PMID: 15649698

4

Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease.

Zigdon H, Savidor A, Levin Y, Meshcheriakova A, Schiffmann R, Futerman AH. Zigdon H, et al. Among authors: schiffmann r. PLoS One. 2015 Mar 16;10(3):e0120194. doi: 10.1371/journal.pone.0120194. eCollection 2015. PLoS One. 2015. PMID: 25775479 Free PMC article.

5

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.

6

EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review.

Poffenberger CN, Inati S, Tayebi N, Stubblefield BK, Ryan E, Schiffmann R, Sidransky E, Lopez G. Poffenberger CN, et al. Among authors: schiffmann r. Mol Genet Metab. 2020 Nov;131(3):358-363. doi: 10.1016/j.ymgme.2020.10.010. Epub 2020 Oct 20. Mol Genet Metab. 2020. PMID: 33183916 Free PMC article.

7

Neuronopathic forms of Gaucher's disease.

Erikson A, Bembi B, Schiffmann R. Erikson A, et al. Among authors: schiffmann r. Baillieres Clin Haematol. 1997 Dec;10(4):711-23. doi: 10.1016/s0950-3536(97)80035-2. Baillieres Clin Haematol. 1997. PMID: 9497859 Review.

8

The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.

Altarescu G, Hill S, Wiggs E, Jeffries N, Kreps C, Parker CC, Brady RO, Barton NW, Schiffmann R. Altarescu G, et al. Among authors: schiffmann r. J Pediatr. 2001 Apr;138(4):539-47. doi: 10.1067/mpd.2001.112171. J Pediatr. 2001. PMID: 11295718

9

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E. Goker-Alpan O, et al. Among authors: schiffmann r. J Pediatr. 2003 Aug;143(2):273-6. doi: 10.1067/S0022-3476(03)00302-0. J Pediatr. 2003. PMID: 12970647

10

Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease.

Goker-Alpan O, Wiggs EA, Eblan MJ, Benko W, Ziegler SG, Sidransky E, Schiffmann R. Goker-Alpan O, et al. Among authors: schiffmann r. J Pediatr. 2008 Jul;153(1):89-94. doi: 10.1016/j.jpeds.2007.12.023. Epub 2008 Feb 14. J Pediatr. 2008. PMID: 18571543

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