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Results: 17

Cited In for PubMed (Select 12522554)

1.

Pathogenic mechanisms in centronuclear myopathies.

Jungbluth H, Gautel M.

Front Aging Neurosci. 2014 Dec 19;6:339. doi: 10.3389/fnagi.2014.00339. eCollection 2014. Review.

2.

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.

Falcone S, Roman W, Hnia K, Gache V, Didier N, Lainé J, Auradé F, Marty I, Nishino I, Charlet-Berguerand N, Romero NB, Marazzi G, Sassoon D, Laporte J, Gomes ER.

EMBO Mol Med. 2014 Sep 28;6(11):1455-75. doi: 10.15252/emmm.201404436.

3.

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.

4.

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.

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.

Identification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family.

Fidani L, Karagianni P, Tsakalidis C, Mitsiako G, Hatziioannidis I, Biancalana V, Nikolaidis N.

Hippokratia. 2011 Jul;15(3):278-9.

10.

Congenital myopathies: an update.

Nance JR, Dowling JJ, Gibbs EM, Bönnemann CG.

Curr Neurol Neurosci Rep. 2012 Apr;12(2):165-74. doi: 10.1007/s11910-012-0255-x. Review.

11.

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.

12.

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

Hnia K, Tronchère H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J.

J Clin Invest. 2011 Jan;121(1):70-85. doi: 10.1172/JCI44021. Epub 2010 Dec 6.

13.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD.

Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3.

14.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.

Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A.

Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18763-8. doi: 10.1073/pnas.0900705106. Epub 2009 Oct 21.

15.

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.

16.

Endosomal phosphoinositides and human diseases.

Nicot AS, Laporte J.

Traffic. 2008 Aug;9(8):1240-9. doi: 10.1111/j.1600-0854.2008.00754.x. Epub 2008 Apr 21. Review.

17.

Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.

Pierson CR, Agrawal PB, Blasko J, Beggs AH.

Neuromuscul Disord. 2007 Jul;17(7):562-8. Epub 2007 May 29. Erratum in: Neuromuscul Disord. 2008 Jun;18(6):519.

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