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Items: 1 to 20 of 23

1.

Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.

D'Avila F, Meregalli M, Lupoli S, Barcella M, Orro A, De Santis F, Sitzia C, Farini A, D'Ursi P, Erratico S, Cristofani R, Milanesi L, Braga D, Cusi D, Poletti A, Barlassina C, Torrente Y.

J Muscle Res Cell Motil. 2016 Jun;37(3):101-15. doi: 10.1007/s10974-016-9451-7. Epub 2016 Jul 21.

2.

Cypher and Enigma homolog protein are essential for cardiac development and embryonic survival.

Mu Y, Jing R, Peter AK, Lange S, Lin L, Zhang J, Ouyang K, Fang X, Veevers J, Zhou X, Evans SM, Cheng H, Chen J.

J Am Heart Assoc. 2015 May 5;4(5). pii: e001950. doi: 10.1161/JAHA.115.001950. Erratum in: J Am Heart Assoc. 2015 Jul;4(7). pii: e001930. doi: 10.1161/JAHA.115.001930.

3.

When myopathy breaks the rules: a late-onset distal presentation.

Newby R, Jamieson S, Udd B, Alty J.

BMJ Case Rep. 2015 Apr 24;2015. pii: bcr2015209436. doi: 10.1136/bcr-2015-209436.

4.

Distal myopathies.

Dimachkie MM, Barohn RJ.

Neurol Clin. 2014 Aug;32(3):817-42, x. doi: 10.1016/j.ncl.2014.04.004. Epub 2014 May 15. Review.

5.

Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.

Lin X, Ruiz J, Bajraktari I, Ohman R, Banerjee S, Gribble K, Kaufman JD, Wingfield PT, Griggs RC, Fischbeck KH, Mankodi A.

J Biol Chem. 2014 May 9;289(19):13615-26. doi: 10.1074/jbc.M114.550418. Epub 2014 Mar 25.

6.

ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle.

Martinelli VC, Kyle WB, Kojic S, Vitulo N, Li Z, Belgrano A, Maiuri P, Banks L, Vatta M, Valle G, Faulkner G.

PLoS One. 2014 Mar 19;9(3):e92259. doi: 10.1371/journal.pone.0092259. eCollection 2014.

7.

The costamere bridges sarcomeres to the sarcolemma in striated muscle.

Peter AK, Cheng H, Ross RS, Knowlton KU, Chen J.

Prog Pediatr Cardiol. 2011 May;31(2):83-88.

8.

Myofibrillar myopathies: new developments.

Olivé M, Kley RA, Goldfarb LG.

Curr Opin Neurol. 2013 Oct;26(5):527-35. doi: 10.1097/WCO.0b013e328364d6b1. Review.

9.

Alp/Enigma family proteins cooperate in Z-disc formation and myofibril assembly.

Katzemich A, Liao KA, Czerniecki S, Schöck F.

PLoS Genet. 2013;9(3):e1003342. doi: 10.1371/journal.pgen.1003342. Epub 2013 Mar 7.

10.

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.

Olivé M, Odgerel Z, Martínez A, Poza JJ, Bragado FG, Zabalza RJ, Jericó I, Gonzalez-Mera L, Shatunov A, Lee HS, Armstrong J, Maraví E, Arroyo MR, Pascual-Calvet J, Navarro C, Paradas C, Huerta M, Marquez F, Rivas EG, Pou A, Ferrer I, Goldfarb LG.

Neuromuscul Disord. 2011 Aug;21(8):533-42. doi: 10.1016/j.nmd.2011.05.002. Epub 2011 Jun 14.

11.

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PFM, Fürst DO, Song J, Djinović-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG.

Am J Hum Genet. 2011 Jun 10;88(6):729-740. doi: 10.1016/j.ajhg.2011.04.021. Epub 2011 May 27.

12.

Selective deletion of long but not short Cypher isoforms leads to late-onset dilated cardiomyopathy.

Cheng H, Zheng M, Peter AK, Kimura K, Li X, Ouyang K, Shen T, Cui L, Frank D, Dalton ND, Gu Y, Frey N, Peterson KL, Evans SM, Knowlton KU, Sheikh F, Chen J.

Hum Mol Genet. 2011 May 1;20(9):1751-62. doi: 10.1093/hmg/ddr050. Epub 2011 Feb 8.

13.

Myofibrillar myopathies.

Selcen D.

Neuromuscul Disord. 2011 Mar;21(3):161-71. doi: 10.1016/j.nmd.2010.12.007. Epub 2011 Jan 20. Review.

14.

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.

Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, Bönnemann C, Brockmann K, Hinderlich S, Lindner TH, Steinbrecher A, Hoffmann K, Privé GG, Hannink M, Nürnberg P, Voit T.

Brain. 2010 Jul;133(Pt 7):2123-35. doi: 10.1093/brain/awq108. Epub 2010 Jun 16.

15.

Loss of enigma homolog protein results in dilated cardiomyopathy.

Cheng H, Kimura K, Peter AK, Cui L, Ouyang K, Shen T, Liu Y, Gu Y, Dalton ND, Evans SM, Knowlton KU, Peterson KL, Chen J.

Circ Res. 2010 Aug 6;107(3):348-56. doi: 10.1161/CIRCRESAHA.110.218735. Epub 2010 Jun 10.

16.

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.

Vihola A, Bachinski LL, Sirito M, Olufemi SE, Hajibashi S, Baggerly KA, Raheem O, Haapasalo H, Suominen T, Holmlund-Hampf J, Paetau A, Cardani R, Meola G, Kalimo H, Edström L, Krahe R, Udd B.

Acta Neuropathol. 2010 Apr;119(4):465-79. doi: 10.1007/s00401-010-0637-6. Epub 2010 Jan 12.

17.

Lower limb radiology of distal myopathy due to the S60F myotilin mutation.

McNeill A, Birchall D, Straub V, Goldfarb L, Reilich P, Walter MC, Schramm N, Lochmüller H, Chinnery PF.

Eur Neurol. 2009;62(3):161-6. doi: 10.1159/000227266. Epub 2009 Jul 3.

18.

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.

19.

Mutation in BAG3 causes severe dominant childhood muscular dystrophy.

Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, Engel AG.

Ann Neurol. 2009 Jan;65(1):83-9. doi: 10.1002/ana.21553.

20.

Myofibrillar myopathies.

Selcen D.

Curr Opin Neurol. 2008 Oct;21(5):585-9. doi: 10.1097/WCO.0b013e32830a752b. Review.

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