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Items: 1 to 20 of 104

1.

Candidate-gene testing for orphan limb-girdle muscular dystrophies.

Aurino S, Piluso G, Saccone V, Cacciottolo M, D'Amico F, Dionisi M, Totaro A, Belsito A, Di Vicino U, Nigro V.

Acta Myol. 2008 Dec;27:90-7.

2.

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.

Fanin M, Nascimbeni AC, Aurino S, Tasca E, Pegoraro E, Nigro V, Angelini C.

Neurology. 2009 Apr 21;72(16):1432-5. doi: 10.1212/WNL.0b013e3181a1885e.

PMID:
19380703
3.

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.

McDonald KK, Stajich J, Blach C, Ashley-Koch AE, Hauser MA.

PLoS One. 2012;7(11):e48864. doi: 10.1371/journal.pone.0048864. Epub 2012 Nov 14.

4.

Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein.

Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM.

J Cell Biol. 2000 Jan 10;148(1):115-26.

5.

Beta-sarcoglycan gene mutations in Turkey.

Balci B, Wilichowski E, Haliloğlu G, Talim B, Aurino S, Kremer E, Ebinger F, Senbil N, Anlar B, Kale G, Nigro V, Topaloğlu H, Bonnemann C, Dinçer P.

Acta Myol. 2004 Dec;23(3):154-8.

PMID:
15938573
6.

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.

Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN.

Neuromuscul Disord. 2008 Jan;18(1):34-44. Epub 2007 Sep 25.

PMID:
17897828
7.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF.

JAMA Neurol. 2015 Dec;72(12):1424-32. doi: 10.1001/jamaneurol.2015.2274.

PMID:
26436962
8.

Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes.

Fendri K, Kefi M, Hentati F, Amouri R.

Neuromuscul Disord. 2006 May;16(5):316-20. Epub 2006 Apr 17.

PMID:
16616845
9.

The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.

Gontier Y, Taivainen A, Fontao L, Sonnenberg A, van der Flier A, Carpen O, Faulkner G, Borradori L.

J Cell Sci. 2005 Aug 15;118(Pt 16):3739-49. Epub 2005 Aug 2.

10.

Update on the genetics of limb girdle muscular dystrophy.

Mitsuhashi S, Kang PB.

Semin Pediatr Neurol. 2012 Dec;19(4):211-8. doi: 10.1016/j.spen.2012.09.008. Review.

PMID:
23245554
11.

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
12.

Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.

Fanin M, Angelini C.

Muscle Nerve. 2015 Aug;52(2):163-73. doi: 10.1002/mus.24682. Epub 2015 May 29. Review.

PMID:
25900067
13.

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.

Bartoli M, Desvignes JP, Nicolas L, Martin K.

Muscle Nerve. 2014 Dec;50(6):1007-10. doi: 10.1002/mus.24344. Epub 2014 Oct 30. Erratum in: Muscle Nerve. 2015 Apr;51(4):628.

PMID:
25046369
14.

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, van Ommen GJ, de Visser M, Bakker E, Ginjaar HB.

Neurology. 2007 Jun 12;68(24):2125-8.

PMID:
17562833
15.

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.

Palenzuela L, Andreu AL, Gàmez J, Vilà MR, Kunimatsu T, Meseguer A, Cervera C, Fernandez Cadenas I, van der Ven PF, Nygaard TG, Bonilla E, Hirano M.

Neurology. 2003 Aug 12;61(3):404-6.

PMID:
12913210
16.

Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E.

Fanin M, Nascimbeni AC, Angelini C.

Neuromuscul Disord. 2006 Nov;16(11):792-9. Epub 2006 Aug 23.

PMID:
16934466
17.

Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family.

Rivas E, Teijeira S, dos Santos MR, Porrit I, Leturcq F, Fernandez JM, Navarro C.

Acta Myol. 2004 Dec;23(3):159-62.

PMID:
15938574
18.

Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy.

Turan S, Farruggio AP, Srifa W, Day JW, Calos MP.

Mol Ther. 2016 Apr;24(4):685-96. doi: 10.1038/mt.2016.40. Epub 2016 Feb 26.

19.

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
20.

The diagnostic utility of a commercial limb-girdle muscular dystrophy gene test panel.

Ghosh PS, Zhou L.

J Clin Neuromuscul Dis. 2012 Dec;14(2):86-7. doi: 10.1097/CND.0b013e31824619e9. No abstract available.

PMID:
23172390

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