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Items: 1 to 20 of 124

1.

Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.

Liewluck T, Tracy JA, Sorenson EJ, Engel AG.

Neuromuscul Disord. 2013 Feb;23(2):133-8. doi: 10.1016/j.nmd.2012.09.010. Epub 2012 Nov 9. Review.

PMID:
23142638
2.

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.

Schoser BG, Frosk P, Engel AG, Klutzny U, Lochmüller H, Wrogemann K.

Ann Neurol. 2005 Apr;57(4):591-5.

PMID:
15786463
3.

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Cossée M, Lagier-Tourenne C, Seguela C, Mohr M, Leturcq F, Gundesli H, Chelly J, Tranchant C, Koenig M, Mandel JL.

Neuromuscul Disord. 2009 Apr;19(4):255-60. doi: 10.1016/j.nmd.2009.02.003. Epub 2009 Mar 19.

PMID:
19303295
4.

Limb-girdle muscular dystrophy 2H and the role of TRIM32.

Shieh PB, Kudryashova E, Spencer MJ.

Handb Clin Neurol. 2011;101:125-33. doi: 10.1016/B978-0-08-045031-5.00009-8. Review.

PMID:
21496629
5.

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

Borg K, Stucka R, Locke M, Melin E, Ahlberg G, Klutzny U, Hagen Mv, Huebner A, Lochmüller H, Wrogemann K, Thornell LE, Blake DJ, Schoser B.

Hum Mutat. 2009 Sep;30(9):E831-44. doi: 10.1002/humu.21063.

PMID:
19492423
6.

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

Saccone V, Palmieri M, Passamano L, Piluso G, Meroni G, Politano L, Nigro V.

Hum Mutat. 2008 Feb;29(2):240-7.

PMID:
17994549
7.

Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.

Frosk P, Del Bigio MR, Wrogemann K, Greenberg CR.

Eur J Hum Genet. 2005 Aug;13(8):978-82.

8.

The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.

Kudryashova E, Struyk A, Mokhonova E, Cannon SC, Spencer MJ.

Hum Mol Genet. 2011 Oct 15;20(20):3925-32. doi: 10.1093/hmg/ddr311. Epub 2011 Jul 20.

9.

Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin.

Kudryashova E, Kudryashov D, Kramerova I, Spencer MJ.

J Mol Biol. 2005 Nov 25;354(2):413-24. Epub 2005 Oct 10.

PMID:
16243356
10.

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.

Neri M, Selvatici R, Scotton C, Trabanelli C, Armaroli A, De Grandis D, Levy N, Gualandi F, Ferlini A.

Neuromuscul Disord. 2013 Jun;23(6):478-82. doi: 10.1016/j.nmd.2013.02.003. Epub 2013 Mar 28.

PMID:
23541687
11.

Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.

Hong JS, Ki CS, Kim JW, Suh YL, Kim JS, Baek KK, Kim BJ, Ahn KJ, Kim DK.

J Korean Med Sci. 2005 Apr;20(2):283-90.

12.

Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H.

Kudryashova E, Kramerova I, Spencer MJ.

J Clin Invest. 2012 May;122(5):1764-76. doi: 10.1172/JCI59581. Epub 2012 Apr 16.

13.

TRIM32 is an E3 ubiquitin ligase for dysbindin.

Locke M, Tinsley CL, Benson MA, Blake DJ.

Hum Mol Genet. 2009 Jul 1;18(13):2344-58. doi: 10.1093/hmg/ddp167. Epub 2009 Apr 6.

14.

Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.

Kudryashova E, Wu J, Havton LA, Spencer MJ.

Hum Mol Genet. 2009 Apr 1;18(7):1353-67. doi: 10.1093/hmg/ddp036. Epub 2009 Jan 19.

15.

Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies.

ten Dam L, van der Kooi AJ, van Wattingen M, de Haan RJ, de Visser M.

Neurology. 2012 Oct 16;79(16):1716-23. doi: 10.1212/WNL.0b013e31826e9b73. Epub 2012 Oct 3.

PMID:
23035061
16.

A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers.

Liewluck T, Milone M, Mauermann ML, Castro-Couch M, Cerhan JH, Murthy NS.

Muscle Nerve. 2014 Aug;50(2):295-9. doi: 10.1002/mus.24290. Epub 2014 Jul 14.

PMID:
24838343
17.

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.

Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, Shen H, Takashima H.

Clin Neurol Neurosurg. 2013 Aug;115(8):1234-7. doi: 10.1016/j.clineuro.2012.11.010. Epub 2012 Dec 14.

PMID:
23254335
18.

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.

Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K.

Am J Hum Genet. 2002 Mar;70(3):663-72. Epub 2002 Jan 29.

19.

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Nadaj-Pakleza A, Roudaut C, Criqui A, Orhant L, Peyroulan D, Ben Yaou R, Nelson I, Cobo AM, Arné-Bes MC, Uro-Coste E, Nitschke P, Claustres M, Bonne G, Lévy N, Chelly J, Richard I, Cossée M.

Eur J Hum Genet. 2015 Jul;23(7):929-34. doi: 10.1038/ejhg.2014.223. Epub 2014 Oct 29.

20.

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Sáenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F.

Neuromuscul Disord. 2005 Feb;15(2):164-71. Epub 2004 Nov 26.

PMID:
15694138

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