Mitrani-Rosenbaum S - Search Results

1

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Laing NG, et al. Hum Mutat. 2009 Sep;30(9):1267-77. doi: 10.1002/humu.21059. Hum Mutat. 2009. PMID: 19562689 Free PMC article.

2

Distinctive patterns of microRNA expression in primary muscular disorders.

Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Neely LA, Whitney D, Beggs AH, Kohane IS, Kunkel LM. Eisenberg I, et al. Proc Natl Acad Sci U S A. 2007 Oct 23;104(43):17016-21. doi: 10.1073/pnas.0708115104. Epub 2007 Oct 17. Proc Natl Acad Sci U S A. 2007. PMID: 17942673 Free PMC article.

3

No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.

Salama I, Hinderlich S, Shlomai Z, Eisenberg I, Krause S, Yarema K, Argov Z, Lochmuller H, Reutter W, Dabby R, Sadeh M, Ben-Bassat H, Mitrani-Rosenbaum S. Salama I, et al. Biochem Biophys Res Commun. 2005 Mar 4;328(1):221-6. doi: 10.1016/j.bbrc.2004.12.157. Biochem Biophys Res Commun. 2005. PMID: 15670773

4

Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells.

Krause S, Hinderlich S, Amsili S, Horstkorte R, Wiendl H, Argov Z, Mitrani-Rosenbaum S, Lochmüller H. Krause S, et al. Exp Cell Res. 2005 Apr 1;304(2):365-79. doi: 10.1016/j.yexcr.2004.11.010. Epub 2004 Dec 19. Exp Cell Res. 2005. PMID: 15748884

5

Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events.

Amsili S, Shlomai Z, Levitzki R, Krause S, Lochmuller H, Ben-Bassat H, Mitrani-Rosenbaum S. Amsili S, et al. Cell Death Differ. 2007 Nov;14(11):1916-24. doi: 10.1038/sj.cdd.4402208. Epub 2007 Aug 3. Cell Death Differ. 2007. PMID: 17673919

6

Gne depletion during zebrafish development impairs skeletal muscle structure and function.

Daya A, Vatine GD, Becker-Cohen M, Tal-Goldberg T, Friedmann A, Gothilf Y, Du SJ, Mitrani-Rosenbaum S. Daya A, et al. Hum Mol Genet. 2014 Jul 1;23(13):3349-61. doi: 10.1093/hmg/ddu045. Epub 2014 Jan 31. Hum Mol Genet. 2014. PMID: 24488768

7

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.

Rokach O, Sekulic-Jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, Zhou H, Muntoni F, Gautel M, Nevo Y, Mitrani-Rosenbaum S, Attali R, Finotti A, Gambari R, Mosca B, Jungbluth H, Zorzato F, Treves S. Rokach O, et al. Hum Mol Genet. 2015 Aug 15;24(16):4636-47. doi: 10.1093/hmg/ddv195. Epub 2015 May 27. Hum Mol Genet. 2015. PMID: 26019235

8

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S. Eisenberg I, et al. Hum Mutat. 2003 Jan;21(1):99. doi: 10.1002/humu.9100. Hum Mutat. 2003. PMID: 12497639

9

GNE protein expression and subcellular distribution are unaltered in HIBM.

Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter MC, Argov Z, Mitrani-Rosenbaum S, Lochmüller H. Krause S, et al. Neurology. 2007 Aug 14;69(7):655-9. doi: 10.1212/01.wnl.0000267426.97138.fd. Neurology. 2007. PMID: 17698786

10

Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD.

Yanay N, Elbaz M, Konikov-Rozenman J, Elgavish S, Nevo Y, Fellig Y, Rabie M, Mitrani-Rosenbaum S, Nevo Y. Yanay N, et al. Among authors: mitrani rosenbaum s. Hum Mol Genet. 2019 Oct 15;28(20):3369-3390. doi: 10.1093/hmg/ddz180. Hum Mol Genet. 2019. PMID: 31348492

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