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Items: 1 to 20 of 205

1.

Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.

Laing NG, Ceuterick-de Groote C, Dye DE, Liyanage K, Duff RM, Dubois B, Robberecht W, Sciot R, Martin JJ, Goebel HH.

Neurology. 2005 Feb 8;64(3):527-9.

PMID:
15699387
2.

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
3.

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

Oldfors A, Tajsharghi H, Thornell LE.

Neurology. 2005 Feb 8;64(3):580-1; author reply 580-1. Review. No abstract available.

PMID:
15699411
4.

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
5.

[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
6.

Scoliosis surgery in a patient with "de novo" myosin storage myopathy.

Stalpers X, Verrips A, Braakhekke J, Lammens M, van den Wijngaard A, Mostert A.

Neuromuscul Disord. 2011 Nov;21(11):812-5. doi: 10.1016/j.nmd.2011.05.005. Epub 2011 Jun 30.

PMID:
21723124
7.

Hereditary myosin myopathies.

Oldfors A.

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

PMID:
17434305
8.

Myosin storage (hyaline body) myopathy: a case report.

Shingde MV, Spring PJ, Maxwell A, Wills EJ, Harper CG, Dye DE, Laing NG, North KN.

Neuromuscul Disord. 2006 Dec;16(12):882-6. Epub 2006 Nov 21.

PMID:
17118657
9.

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
10.

Induced shift in myosin heavy chain expression in myosin myopathy by endurance training.

Tajsharghi H, Sunnerhagen KS, Darin N, Kyllerman M, Oldfors A.

J Neurol. 2004 Feb;251(2):179-83.

PMID:
14991352
11.

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
12.

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
13.

Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.

Yüceyar N, Ayhan Ö, Karasoy H, Tolun A.

Neuromuscul Disord. 2015 Apr;25(4):340-4. doi: 10.1016/j.nmd.2015.01.007. Epub 2015 Jan 26.

PMID:
25666907
14.

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
15.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
16.

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.

Tajsharghi H, Oldfors A, Macleod DP, Swash M.

Neurology. 2007 Mar 20;68(12):962. No abstract available.

PMID:
17372140
17.

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
18.

A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy.

Corbett MA, Robinson CS, Dunglison GF, Yang N, Joya JE, Stewart AW, Schnell C, Gunning PW, North KN, Hardeman EC.

Hum Mol Genet. 2001 Feb 15;10(4):317-28.

PMID:
11157795
19.

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF.

Neurology. 2004 May 11;62(9):1518-21.

PMID:
15136674
20.

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

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