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Results: 1 to 20 of 316

Similar articles for PubMed (Select 15605950)

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.

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
7.

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.

8.

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
9.

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.

10.

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
11.

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.

12.

A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation.

Tajsharghi H, Pilon M, Oldfors A.

Ann Neurol. 2005 Sep;58(3):442-8. Erratum in: Ann Neurol. 2005 Nov;58(5):818.

PMID:
16130113
13.

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.

14.

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
15.

Stapedius muscle fibre composition in the rat.

Dammeijer PF, van Mameren H, van Dijk P, Moorman AF, Habets P, Manni JJ, Drukker J.

Hear Res. 2000 Mar;141(1-2):169-79.

PMID:
10713505
16.

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.

17.

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.

18.

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.

Blair E, Redwood C, de Jesus Oliveira M, Moolman-Smook JC, Brink P, Corfield VA, Ostman-Smith I, Watkins H.

Circ Res. 2002 Feb 22;90(3):263-9.

19.

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.

20.

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
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