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Items: 14

1.

Disrupted autophagy undermines skeletal muscle adaptation and integrity.

Jokl EJ, Blanco G.

Mamm Genome. 2016 Dec;27(11-12):525-537. Epub 2016 Aug 2. Review.

2.

MAMLD1 (CXorf6) is a New Gene for Hypospadias.

Ogata T, Fukami M, Wada Y.

Clin Pediatr Endocrinol. 2008;17(4):87-93. doi: 10.1297/cpe.17.87. Epub 2008 Nov 8. Review.

3.

Extensive morphological and immunohistochemical characterization in myotubular myopathy.

Shichiji M, Biancalana V, Fardeau M, Hogrel JY, Osawa M, Laporte J, Romero NB.

Brain Behav. 2013 Jul;3(4):476-86. doi: 10.1002/brb3.147. Epub 2013 Jun 19.

4.

X-linked recessive myotubular myopathy with MTM1 mutations.

Han YM, Kwon KA, Lee YJ, Nam SO, Park KH, Byun SY, Kim GH, Yoo HW.

Korean J Pediatr. 2013 Mar;56(3):139-42. doi: 10.3345/kjp.2013.56.3.139. Epub 2013 Mar 18.

5.

Large duplication in MTM1 associated with myotubular myopathy.

Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ.

Neuromuscul Disord. 2013 Mar;23(3):214-8. doi: 10.1016/j.nmd.2012.11.010. Epub 2012 Dec 28.

6.

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

Amoasii L, Bertazzi DL, Tronchère H, Hnia K, Chicanne G, Rinaldi B, Cowling BS, Ferry A, Klaholz B, Payrastre B, Laporte J, Friant S.

PLoS Genet. 2012;8(10):e1002965. doi: 10.1371/journal.pgen.1002965. Epub 2012 Oct 11.

7.

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

Oliveira J, Oliveira ME, Kress W, Taipa R, Pires MM, Hilbert P, Baxter P, Santos M, Buermans H, den Dunnen JT, Santos R.

Eur J Hum Genet. 2013 May;21(5):540-9. doi: 10.1038/ejhg.2012.201. Epub 2012 Sep 12.

8.

Clinical utility gene card for: Centronuclear and myotubular myopathies.

Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte J.

Eur J Hum Genet. 2012 Oct;20(10). doi: 10.1038/ejhg.2012.91. Epub 2012 May 23. No abstract available.

9.

Protein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway.

Lin X, Yang X, Li Q, Ma Y, Cui S, He D, Lin X, Schwartz RJ, Chang J.

Mol Cell Biol. 2012 Jan;32(2):297-308. doi: 10.1128/MCB.05484-11. Epub 2011 Nov 21. Erratum in: Mol Cell Biol. 2017 Jul 28;37(16):.

10.

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.

Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH.

Hum Mol Genet. 2012 Feb 15;21(4):811-25. doi: 10.1093/hmg/ddr512. Epub 2011 Nov 7.

11.

Centronuclear (myotubular) myopathy.

Jungbluth H, Wallgren-Pettersson C, Laporte J.

Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Review.

12.

Peroxisome degradation requires catalytically active sterol glucosyltransferase with a GRAM domain.

Oku M, Warnecke D, Noda T, Müller F, Heinz E, Mukaiyama H, Kato N, Sakai Y.

EMBO J. 2003 Jul 1;22(13):3231-41.

14.

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

Vincent MC, Guiraud-Chaumeil C, Laporte J, Manouvrier-Hanu S, Mandel JL.

J Med Genet. 1998 Mar;35(3):241-3.

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