Format
Sort by

Send to

Choose Destination

Search results

Items: 1 to 20 of 44

1.

A phosphoinositide conversion mechanism for exit from endosomes.

Ketel K, Krauss M, Nicot AS, Puchkov D, Wieffer M, Müller R, Subramanian D, Schultz C, Laporte J, Haucke V.

Nature. 2016 Jan 21;529(7586):408-12. doi: 10.1038/nature16516. Epub 2016 Jan 13.

PMID:
26760201
2.

Respiratory motor function in individuals with centronuclear myopathies.

Smith BK, Renno MS, Green MM, Sexton TM, Lawson LA, Martin AD, Corti M, Byrne BJ.

Muscle Nerve. 2016 Feb;53(2):214-21. doi: 10.1002/mus.24899. Epub 2015 Dec 29. Erratum in: Muscle Nerve. 2016 Jun;53(6):1000.

PMID:
26351754
3.

Gene therapy for inherited muscle diseases: where genetics meets rehabilitation medicine.

Braun R, Wang Z, Mack DL, Childers MK.

Am J Phys Med Rehabil. 2014 Nov;93(11 Suppl 3):S97-107. doi: 10.1097/PHM.0000000000000138. Review.

4.

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH.

Am J Hum Genet. 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31.

5.

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.

Cowling BS, Chevremont T, Prokic I, Kretz C, Ferry A, Coirault C, Koutsopoulos O, Laugel V, Romero NB, Laporte J.

J Clin Invest. 2014 Mar;124(3):1350-63. doi: 10.1172/JCI71206. Epub 2014 Feb 24.

6.

Dynamin 2 the rescue for centronuclear myopathy.

Demonbreun AR, McNally EM.

J Clin Invest. 2014 Mar;124(3):976-8. doi: 10.1172/JCI74434. Epub 2014 Feb 24.

7.

Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.

Childers MK, Joubert R, Poulard K, Moal C, Grange RW, Doering JA, Lawlor MW, Rider BE, Jamet T, Danièle N, Martin S, Rivière C, Soker T, Hammer C, Van Wittenberghe L, Lockard M, Guan X, Goddard M, Mitchell E, Barber J, Williams JK, Mack DL, Furth ME, Vignaud A, Masurier C, Mavilio F, Moullier P, Beggs AH, Buj-Bello A.

Sci Transl Med. 2014 Jan 22;6(220):220ra10. doi: 10.1126/scitranslmed.3007523.

8.

Fatal Hepatic Hemorrhage from Peliosis Hepatis with X-linked Myotubular Myopathy.

Hagiwara S, Kubota M, Sakaguchi K, Hiwatari E, Kishimoto H, Kagimoto S.

J Pediatr Gastroenterol Nutr. 2015 May;60(5):e45-6. doi: 10.1097/MPG.0000000000000233. No abstract available.

PMID:
24172586
9.

Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: a case report.

Motoki T, Fukuda M, Nakano T, Matsukage S, Fukui A, Akiyoshi S, Hayashi YK, Ishii E, Nishino I.

Neuromuscul Disord. 2013 Nov;23(11):917-21. doi: 10.1016/j.nmd.2013.06.008. Epub 2013 Sep 4.

PMID:
24011703
10.

Adult centronuclear myopathies: A hospital-based study.

Echaniz-Laguna A, Biancalana V, Böhm J, Tranchant C, Mandel JL, Laporte J.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):625-31. doi: 10.1016/j.neurol.2012.12.006. Epub 2013 Aug 9.

PMID:
23938035
11.

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH.

PLoS Genet. 2013 Jun;9(6):e1003583. doi: 10.1371/journal.pgen.1003583. Epub 2013 Jun 20.

12.

Protein tyrosine phosphatase variants in human hereditary disorders and disease susceptibilities.

Hendriks WJ, Pulido R.

Biochim Biophys Acta. 2013 Oct;1832(10):1673-96. doi: 10.1016/j.bbadis.2013.05.022. Epub 2013 May 23. Review.

13.

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.

Lawlor MW, Armstrong D, Viola MG, Widrick JJ, Meng H, Grange RW, Childers MK, Hsu CP, O'Callaghan M, Pierson CR, Buj-Bello A, Beggs AH.

Hum Mol Genet. 2013 Apr 15;22(8):1525-38. doi: 10.1093/hmg/ddt003. Epub 2013 Jan 9.

14.

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.

15.

Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.

Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E.

Am J Pathol. 2012 Sep;181(3):961-8. doi: 10.1016/j.ajpath.2012.05.016. Epub 2012 Jul 27.

16.

Predisposition to subdural hemorrhage in X-linked myotubular myopathy.

Koga H, Miyako K, Suga N, Hidaka T, Takahashi N.

Pediatr Neurol. 2012 May;46(5):332-4. doi: 10.1016/j.pediatrneurol.2012.02.026.

PMID:
22520358
17.

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.

Gurgel-Giannetti J, Zanoteli E, de Castro Concentino EL, Abath Neto O, Pesquero JB, Reed UC, Vainzof M.

Neuromuscul Disord. 2012 Jun;22(6):541-5. doi: 10.1016/j.nmd.2011.12.005. Epub 2012 Jan 20.

PMID:
22264517
18.

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.

Trump N, Cullup T, Verheij JB, Manzur A, Muntoni F, Abbs S, Jungbluth H.

Neuromuscul Disord. 2012 May;22(5):384-8. doi: 10.1016/j.nmd.2011.11.004. Epub 2011 Dec 9.

PMID:
22153990
19.

A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy.

Sewry CA, Quinlivan RC, Squier W, Morris GE, Holt I.

Neuromuscul Disord. 2012 Mar;22(3):225-30. doi: 10.1016/j.nmd.2011.10.002. Epub 2011 Nov 22.

PMID:
22113158
20.

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.

Items per page

Supplemental Content

Loading ...
Write to the Help Desk