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Results: 1 to 20 of 130

1.

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.

Homayoun H, Khavandgar S, Hoover JM, Mohsen AW, Vockley J, Lacomis D, Clemens PR.

Neuromuscul Disord. 2011 Mar;21(3):219-22. doi: 10.1016/j.nmd.2010.12.005. Epub 2011 Jan 5.

PMID:
21211974
[PubMed - indexed for MEDLINE]
2.

Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.

Overeem S, Schelhaas HJ, Blijham PJ, Grootscholten MI, ter Laak HJ, Timmermans J, van den Wijngaard A, Zwarts MJ.

Neuromuscul Disord. 2007 Jun;17(6):490-3. Epub 2007 Mar 23.

PMID:
17383184
[PubMed - indexed for MEDLINE]
3.

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG.

Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20.

PMID:
15322983
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

Dubourg O, Maisonobe T, Behin A, Suominen T, Raheem O, Penttilä S, Parton M, Eymard B, Dahl A, Udd B.

J Neurol. 2011 Jun;258(6):1157-63. doi: 10.1007/s00415-011-5900-9. Epub 2011 Jan 30.

PMID:
21279644
[PubMed - indexed for MEDLINE]
5.

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.

Lamont PJ, Udd B, Mastaglia FL, de Visser M, Hedera P, Voit T, Bridges LR, Fabian V, Rozemuller A, Laing NG.

J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):208-15. Epub 2005 Aug 15.

PMID:
16103042
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.

Muelas N, Hackman P, Luque H, Garcés-Sánchez M, Azorín I, Suominen T, Sevilla T, Mayordomo F, Gómez L, Martí P, María Millán J, Udd B, Vílchez JJ.

Neurology. 2010 Aug 24;75(8):732-41. doi: 10.1212/WNL.0b013e3181eee4d5.

PMID:
20733148
[PubMed - indexed for MEDLINE]
7.

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.

Uro-Coste E, Arné-Bes MC, Pellissier JF, Richard P, Levade T, Heitz F, Figarella-Branger D, Delisle MB.

Neuromuscul Disord. 2009 Feb;19(2):163-6. doi: 10.1016/j.nmd.2008.11.012. Epub 2009 Jan 12.

PMID:
19138847
[PubMed - indexed for MEDLINE]
8.

New phenotype and pathology features in MYH7-related distal myopathy.

Tasca G, Ricci E, Penttilä S, Monforte M, Giglio V, Ottaviani P, Camastra G, Silvestri G, Udd B.

Neuromuscul Disord. 2012 Jul;22(7):640-7. doi: 10.1016/j.nmd.2012.03.003. Epub 2012 Apr 20.

PMID:
22521714
[PubMed - indexed for MEDLINE]
9.

Hereditary myosin myopathies.

Oldfors A.

Neuromuscul Disord. 2007 May;17(5):355-67. Epub 2007 Apr 16. Review.

PMID:
17434305
[PubMed - indexed for MEDLINE]
10.

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.

Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ.

Neuromuscul Disord. 2011 Apr;21(4):254-62. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1.

PMID:
21288719
[PubMed - indexed for MEDLINE]
11.

New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.

Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A.

Neurology. 2007 Jun 5;68(23):2041-2. No abstract available.

PMID:
17548557
[PubMed - indexed for MEDLINE]
12.

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

Dye DE, Azzarelli B, Goebel HH, Laing NG.

Neuromuscul Disord. 2006 Jun;16(6):357-60. Epub 2006 May 8.

PMID:
16684601
[PubMed - indexed for MEDLINE]
13.

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement.

Park JM, Kim YJ, Yoo JH, Hong YB, Park JH, Koo H, Chung KW, Choi BO.

Neuromuscul Disord. 2013 Jul;23(7):580-6. doi: 10.1016/j.nmd.2013.04.003. Epub 2013 May 24.

PMID:
23707328
[PubMed - indexed for MEDLINE]
14.

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A.

Ann Neurol. 2003 Oct;54(4):494-500.

PMID:
14520662
[PubMed - indexed for MEDLINE]
15.

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C.

Neuromuscul Disord. 2007 Apr;17(4):321-9. Epub 2007 Mar 2.

PMID:
17336526
[PubMed - indexed for MEDLINE]
16.

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.

Cullup T, Lamont PJ, Cirak S, Damian MS, Wallefeld W, Gooding R, Tan SV, Sheehan J, Muntoni F, Abbs S, Sewry CA, Dubowitz V, Laing NG, Jungbluth H.

Neuromuscul Disord. 2012 Dec;22(12):1096-104. doi: 10.1016/j.nmd.2012.06.007. Epub 2012 Jul 10.

PMID:
22784669
[PubMed - indexed for MEDLINE]
17.

[Myosin storage myopathy: a rare subtype of protein aggregate myopathies].

Kiphuth IC, Neuen-Jacob E, Struffert T, Wehner M, Wallefeld W, Laing N, Schröder R.

Fortschr Neurol Psychiatr. 2010 Apr;78(4):219-22. doi: 10.1055/s-0029-1245145. Epub 2010 Apr 7. German.

PMID:
20376763
[PubMed - indexed for MEDLINE]
18.

[The genotype-phenotype correlation of the MYH7 gene c.1273G > a mutation in familial hypertrophic cardiomyopathy].

Wang H, Zou YB, Song L, Wang JZ, Sun K, Song XD, Gao S, Zhang CN, Hui RT.

Yi Chuan. 2009 May;31(5):485-8. Chinese.

PMID:
19586842
[PubMed - indexed for MEDLINE]
19.

Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.

Seebohm B, Matinmehr F, Köhler J, Francino A, Navarro-Lopéz F, Perrot A, Ozcelik C, McKenna WJ, Brenner B, Kraft T.

Biophys J. 2009 Aug 5;97(3):806-24. doi: 10.1016/j.bpj.2009.05.023.

PMID:
19651039
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.

Frazier A, Judge DP, Schulman SP, Johnson N, Holmes KW, Murphy AM.

Pediatr Cardiol. 2008 Jul;29(4):846-50. doi: 10.1007/s00246-007-9177-9. Epub 2008 Jan 4.

PMID:
18175163
[PubMed - indexed for MEDLINE]

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