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Items: 8

1.

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.

2.

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.

3.

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.

4.

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.

Nonaka I, Noguchi S, Nishino I.

Curr Neurol Neurosci Rep. 2005 Feb;5(1):61-5. Review.

PMID:
15676110
5.

Hereditary inclusion-body myopathies.

Broccolini A, Mirabella M.

Biochim Biophys Acta. 2015 Apr;1852(4):644-50. doi: 10.1016/j.bbadis.2014.08.007. Epub 2014 Aug 19. Review.

6.

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.

7.

A novel splice site and two known mutations of androgen receptor gene in sex-reversed XY phenotype.

Vasu VR, Saranya B, Jayashankar M, Munirajan AK, Santhiya ST.

Genet Test Mol Biomarkers. 2012 Jul;16(7):749-55. doi: 10.1089/gtmb.2011.0292. Review.

PMID:
22799610
8.

The hereditary inclusion body myopathy enigma and its future therapy.

Argov Z, Mitrani-Rosenbaum S.

Neurotherapeutics. 2008 Oct;5(4):633-7. doi: 10.1016/j.nurt.2008.07.004. Review.

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