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Results: 1 to 20 of 102

1.

Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.

Kurapati R, McKenna C, Lindqvist J, Williams D, Simon M, LeProust E, Baker J, Cheeseman M, Carroll N, Denny P, Laval S, Lochmüller H, Ochala J, Blanco G.

Hum Mol Genet. 2012 Apr 15;21(8):1706-24. doi: 10.1093/hmg/ddr605. Epub 2011 Dec 23.

PMID:
22199023
[PubMed - indexed for MEDLINE]
Free Article
2.

The fraction of strongly bound cross-bridges is increased in mice that carry the myopathy-linked myosin heavy chain mutation MYH4L342Q.

Lindqvist J, Iwamoto H, Blanco G, Ochala J.

Dis Model Mech. 2013 May;6(3):834-40. doi: 10.1242/dmm.011155. Epub 2013 Jan 18.

PMID:
23335206
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
22918376
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
5.

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]
6.

Hereditary myosin myopathies.

Oldfors A.

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

PMID:
17434305
[PubMed - indexed for MEDLINE]
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.

PMID:
20418530
[PubMed - indexed for MEDLINE]
Free Article
8.

Postnatal myosin heavy chain isoform expression in normal mice and mice null for IIb or IId myosin heavy chains.

Allen DL, Leinwand LA.

Dev Biol. 2001 Jan 15;229(2):383-95.

PMID:
11150240
[PubMed - indexed for MEDLINE]
Free Article
9.

[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]
10.

Thick filament diseases.

Oldfors A, Lamont PJ.

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

PMID:
19181095
[PubMed - indexed for MEDLINE]
11.

Expression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness.

Wang Y, Melkani GC, Suggs JA, Melkani A, Kronert WA, Cammarato A, Bernstein SI.

Mol Biol Cell. 2012 Jun;23(11):2057-65. doi: 10.1091/mbc.E12-02-0120. Epub 2012 Apr 11.

PMID:
22496423
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
11114175
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

Growth and muscle defects in mice lacking adult myosin heavy chain genes.

Acakpo-Satchivi LJ, Edelmann W, Sartorius C, Lu BD, Wahr PA, Watkins SC, Metzger JM, Leinwand L, Kucherlapati R.

J Cell Biol. 1997 Dec 1;139(5):1219-29.

PMID:
9382868
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein.

Blanco G, Coulton GR, Biggin A, Grainge C, Moss J, Barrett M, Berquin A, Maréchal G, Skynner M, van Mier P, Nikitopoulou A, Kraus M, Ponting CP, Mason RM, Brown SD.

Hum Mol Genet. 2001 Jan 1;10(1):9-16.

PMID:
11136708
[PubMed - indexed for MEDLINE]
Free Article
16.

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]
17.

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
[PubMed - indexed for MEDLINE]
18.

Myosin heavy chains IIa and IId are functionally distinct in the mouse.

Sartorius CA, Lu BD, Acakpo-Satchivi L, Jacobsen RP, Byrnes WC, Leinwand LA.

J Cell Biol. 1998 May 18;141(4):943-53.

PMID:
9585413
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Leucine induces myofibrillar protein accretion in cultured skeletal muscle through mTOR dependent and -independent control of myosin heavy chain mRNA levels.

Haegens A, Schols AM, van Essen AL, van Loon LJ, Langen RC.

Mol Nutr Food Res. 2012 May;56(5):741-52. doi: 10.1002/mnfr.201100695.

PMID:
22648621
[PubMed - indexed for MEDLINE]
20.

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.

Ravenscroft G, Jackaman C, Sewry CA, McNamara E, Squire SE, Potter AC, Papadimitriou J, Griffiths LM, Bakker AJ, Davies KE, Laing NG, Nowak KJ.

PLoS One. 2011;6(12):e28699. doi: 10.1371/journal.pone.0028699. Epub 2011 Dec 9.

PMID:
22174871
[PubMed - indexed for MEDLINE]
Free PMC Article

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