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Items: 1 to 20 of 152

1.

Myopathies associated with myosin heavy chain mutations.

Oldfors A, Tajsharghi H, Darin N, Lindberg C.

Acta Myol. 2004 Sep;23(2):90-6. Review.

PMID:
15605950
2.

Hereditary myosin myopathies.

Oldfors A.

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

PMID:
17434305
3.

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
4.

Thick filament diseases.

Oldfors A, Lamont PJ.

Adv Exp Med Biol. 2008;642:78-91. Review.

PMID:
19181095
5.

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
6.

Myosinopathies: pathology and mechanisms.

Tajsharghi H, Oldfors A.

Acta Neuropathol. 2013 Jan;125(1):3-18. doi: 10.1007/s00401-012-1024-2. Epub 2012 Aug 5. Review.

7.

Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age.

Tajsharghi H, Thornell LE, Darin N, Martinsson T, Kyllerman M, Wahlström J, Oldfors A.

Neurology. 2002 Mar 12;58(5):780-6.

PMID:
11889243
8.

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

Tajsharghi H, Hilton-Jones D, Raheem O, Saukkonen AM, Oldfors A, Udd B.

Brain. 2010 May;133(Pt 5):1451-9. doi: 10.1093/brain/awq083.

PMID:
20418530
9.

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.

Feinstein-Linial M, Buvoli M, Buvoli A, Sadeh M, Dabby R, Straussberg R, Shelef I, Dayan D, Leinwand LA, Birk OS.

BMC Med Genet. 2016 Aug 12;17(1):57. doi: 10.1186/s12881-016-0315-1.

10.

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

Tajsharghi H, Hammans S, Lindberg C, Lossos A, Clarke NF, Mazanti I, Waddell LB, Fellig Y, Foulds N, Katifi H, Webster R, Raheem O, Udd B, Argov Z, Oldfors A.

Eur J Hum Genet. 2014 Jun;22(6):801-8. doi: 10.1038/ejhg.2013.250. Epub 2013 Nov 6.

11.

Abundant expression of myosin heavy-chain IIB RNA in a subset of human masseter muscle fibres.

Horton MJ, Brandon CA, Morris TJ, Braun TW, Yaw KM, Sciote JJ.

Arch Oral Biol. 2001 Nov;46(11):1039-50.

12.

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.

Willis T, Hedberg-Oldfors C, Alhaswani Z, Kulshrestha R, Sewry C, Oldfors A.

J Neurol. 2016 Jul;263(7):1427-33. doi: 10.1007/s00415-016-8154-8. Epub 2016 May 13.

PMID:
27177998
13.

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.

Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A.

Arch Neurol. 2008 Aug;65(8):1083-90. doi: 10.1001/archneur.65.8.1083. Erratum in: Arch Neurol. 2008 Dec;65(12):1654.

PMID:
18695058
14.

Research progress of myosin heavy chain genes in human genetic diseases.

He YM, Gu MM.

Yi Chuan. 2017 Oct 20;39(10):877-887. doi: 10.16288/j.yczz.17-090. Review.

PMID:
29070483
15.

Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene.

Martinsson T, Oldfors A, Darin N, Berg K, Tajsharghi H, Kyllerman M, Wahlstrom J.

Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14614-9.

16.

Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.

Armel TZ, Leinwand LA.

Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6291-6. doi: 10.1073/pnas.0900107106. Epub 2009 Mar 31.

17.

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
18.

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.

Bánfai Z, Hadzsiev K, Pál E, Komlósi K, Melegh M, Balikó L, Melegh B.

BMC Med Genet. 2017 Sep 19;18(1):105. doi: 10.1186/s12881-017-0463-y. Erratum in: BMC Med Genet. 2017 Dec 16;18(1):150.

19.

Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).

Tajsharghi H, Darin N, Rekabdar E, Kyllerman M, Wahlström J, Martinsson T, Oldfors A.

Eur J Hum Genet. 2005 May;13(5):617-22.

20.

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