Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 18

1.

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

Cerino M, Gorokhova S, Béhin A, Urtizberea JA, Kergourlay V, Salvo E, Bernard R, Lévy N, Bartoli M, Krahn M.

J Neuromuscul Dis. 2015 Jun 4;2(2):131-136.

2.

Genetics of GNE myopathy in the non-Jewish Persian population.

Haghighi A, Nafissi S, Qurashi A, Tan Z, Shamshiri H, Nilipour Y, Haghighi A, Desnick RJ, Kornreich R.

Eur J Hum Genet. 2016 Feb;24(2):243-51. doi: 10.1038/ejhg.2015.78. Epub 2015 May 13.

3.

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy.

Behnam M, Jin-Hong S, Kim DS, Basiri K, Nilipour Y, Sedghi M.

J Res Med Sci. 2014 Aug;19(8):792-4.

4.

Mutation update for GNE gene variants associated with GNE myopathy.

Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M.

Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. Review.

5.

Sialylation and muscle performance: sialic acid is a marker of muscle ageing.

Hanisch F, Weidemann W, Großmann M, Joshi PR, Holzhausen HJ, Stoltenburg G, Weis J, Zierz S, Horstkorte R.

PLoS One. 2013 Dec 11;8(12):e80520. doi: 10.1371/journal.pone.0080520. eCollection 2013.

6.

UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.

Hinderlich S, Weidemann W, Yardeni T, Horstkorte R, Huizing M.

Top Curr Chem. 2015;366:97-137. doi: 10.1007/128_2013_464. Review.

7.

Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle.

Broccolini A, Gidaro T, Morosetti R, Sancricca C, Mirabella M.

Acta Myol. 2011 Oct;30(2):91-5. Review.

8.

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB.

BMC Med Genet. 2011 Jun 28;12:87. doi: 10.1186/1471-2350-12-87.

9.

Novel GNE mutations in two phenotypically distinct HIBM2 patients.

Weihl CC, Miller SE, Zaidman CM, Pestronk A, Baloh RH, Al-Lozi M.

Neuromuscul Disord. 2011 Feb;21(2):102-5. doi: 10.1016/j.nmd.2010.11.002. Epub 2010 Dec 4.

10.

Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.

Voermans NC, Guillard M, Doedée R, Lammens M, Huizing M, Padberg GW, Wevers RA, van Engelen BG, Lefeber DJ.

Clin Neuropathol. 2010 Mar-Apr;29(2):71-7.

11.

Hereditary Inclusion Body Myopathy (HIBM2).

Jay CM, Levonyak N, Nemunaitis G, Maples PB, Nemunaitis J.

Gene Regul Syst Bio. 2009 Oct 21;3:181-90.

12.
13.

Preclinical assessment of wt GNE gene plasmid for management of hereditary inclusion body myopathy 2 (HIBM2).

Jay C, Nemunaitis G, Nemunaitis J, Senzer N, Hinderlich S, Darvish D, Ogden J, Eager J, Tong A, Maples PB.

Gene Regul Syst Bio. 2008 Jun 20;2:243-52.

14.

Hereditary inclusion body myopathy: a decade of progress.

Huizing M, Krasnewich DM.

Biochim Biophys Acta. 2009 Sep;1792(9):881-7. doi: 10.1016/j.bbadis.2009.07.001. Epub 2009 Jul 24. Review.

16.

UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?

Amsili S, Zer H, Hinderlich S, Krause S, Becker-Cohen M, MacArthur DG, North KN, Mitrani-Rosenbaum S.

PLoS One. 2008 Jun 18;3(6):e2477. doi: 10.1371/journal.pone.0002477.

17.

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

Galeano B, Klootwijk R, Manoli I, Sun M, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M.

J Clin Invest. 2007 Jun;117(6):1585-94.

18.

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.

Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Harris-Love M, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA.

BMC Neurol. 2007 Jan 29;7:3.

Supplemental Content

Support Center