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Items: 1 to 20 of 51

1.

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B.

Nat Genet. 2012 Feb 26;44(4):450-5, S1-2. doi: 10.1038/ng.1103.

2.

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.

Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH.

Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14.

3.

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.

Selcen D, Bromberg MB, Chin SS, Engel AG.

Neurology. 2011 Nov 29;77(22):1951-9. doi: 10.1212/WNL.0b013e31823a0ebe. Epub 2011 Nov 16.

4.

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.

Del Bigio MR, Chudley AE, Sarnat HB, Campbell C, Goobie S, Chodirker BN, Selcen D.

Ann Neurol. 2011 May;69(5):866-71. doi: 10.1002/ana.22331. Epub 2011 Feb 18.

5.

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.

Forrest KM, Al-Sarraj S, Sewry C, Buk S, Tan SV, Pitt M, Durward A, McDougall M, Irving M, Hanna MG, Matthews E, Sarkozy A, Hudson J, Barresi R, Bushby K, Jungbluth H, Wraige E.

Neuromuscul Disord. 2011 Jan;21(1):37-40. doi: 10.1016/j.nmd.2010.11.003. Epub 2010 Dec 3.

PMID:
21130652
6.

A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family.

Luan X, Hong D, Zhang W, Wang Z, Yuan Y.

Neuromuscul Disord. 2010 Jun;20(6):390-6. doi: 10.1016/j.nmd.2010.03.009. Epub 2010 Apr 22.

PMID:
20417099
7.

Myofibrillar Myopathy.

Selcen D, Engel AG.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2005 Jan 28 [updated 2012 Oct 29].

8.

Extralysosomal protein degradation in myofibrillar myopathies.

Olivé M.

Brain Pathol. 2009 Jul;19(3):507-15. doi: 10.1111/j.1750-3639.2009.00288.x. Review.

PMID:
19563542
9.

Myofibrillar myopathies: a clinical and myopathological guide.

Schröder R, Schoser B.

Brain Pathol. 2009 Jul;19(3):483-92. doi: 10.1111/j.1750-3639.2009.00289.x. Review.

PMID:
19563540
10.

Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.

Shalaby S, Mitsuhashi H, Matsuda C, Minami N, Noguchi S, Nonaka I, Nishino I, Hayashi YK.

J Neuropathol Exp Neurol. 2009 Jun;68(6):701-7. doi: 10.1097/NEN.0b013e3181a7f703.

11.

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.

Piñol-Ripoll G, Shatunov A, Cabello A, Larrodé P, de la Puerta I, Pelegrín J, Ramos FJ, Olivé M, Goldfarb LG.

Neuromuscul Disord. 2009 Jun;19(6):418-22. doi: 10.1016/j.nmd.2009.04.004. Epub 2009 May 9.

12.

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.

13.

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, van Landeghem F, Bayarsaikhan M, Lee HS, Goudeau B, Chinnery PF, Straub V, Hilton-Jones D, Damian MS, Kaminska A, Vicart P, Bushby K, Dalakas MC, Sambuughin N, Ferrer I, Goebel HH, Goldfarb LG.

Eur J Hum Genet. 2009 May;17(5):656-63. doi: 10.1038/ejhg.2008.226. Epub 2008 Dec 3.

14.

Myofibrillar myopathies.

Selcen D.

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

15.

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG.

J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450.

16.

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.

Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M.

Am J Hum Genet. 2008 Jan;82(1):208-13. doi: 10.1016/j.ajhg.2007.09.013.

17.

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.

Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004.

18.

Impact of disease mutations on the desmin filament assembly process.

Bär H, Mücke N, Ringler P, Müller SA, Kreplak L, Katus HA, Aebi U, Herrmann H.

J Mol Biol. 2006 Jul 28;360(5):1031-42. Epub 2006 Jun 16.

PMID:
16828798
19.

Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.

Garvey SM, Miller SE, Claflin DR, Faulkner JA, Hauser MA.

Hum Mol Genet. 2006 Aug 1;15(15):2348-62. Epub 2006 Jun 26.

20.

Myotilinopathy in a family with late onset myopathy.

Pénisson-Besnier I, Talvinen K, Dumez C, Vihola A, Dubas F, Fardeau M, Hackman P, Carpen O, Udd B.

Neuromuscul Disord. 2006 Jul;16(7):427-31. Epub 2006 Jun 21.

PMID:
16793270
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