Literature DB >> 17548557

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

N Darin1, H Tajsharghi, I Ostman-Smith, T Gilljam, A Oldfors.   

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Year:  2007        PMID： 17548557     DOI： 10.1212/01.wnl.0000264430.55233.72

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  18 in total

1.  Clinical utility gene card for: Laing distal myopathy.

Authors:  Phillipa Lamont; William Wallefeld; Mark Davis; Bjarne Udd; Nigel Laing
Journal:  Eur J Hum Genet       Date:  2010-12-08       Impact factor: 4.246

2.  Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member.

Authors:  Martin Dahl-Halvarsson; Montse Olive; Malgorzata Pokrzywa; Katarina Ejeskär; Ruth H Palmer; Anne Elisabeth Uv; Homa Tajsharghi
Journal:  Proc Natl Acad Sci U S A       Date:  2018-06-26       Impact factor: 11.205

3.  A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.

Authors:  Carola Hedberg-Oldfors; Niklas Darin; Mia Olsson Engman; Zacharias Orfanos; Christer Thomsen; Peter F M van der Ven; Anders Oldfors
Journal:  Eur J Hum Genet       Date:  2016-08-03       Impact factor: 4.246

4.  Effects of pathogenic proline mutations on myosin assembly.

Authors:  Massimo Buvoli; Ada Buvoli; Leslie A Leinwand
Journal:  J Mol Biol       Date:  2011-12-06       Impact factor: 5.469

5.  Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

Authors:  Homa Tajsharghi; Simon Hammans; Christopher Lindberg; Alexander Lossos; Nigel F Clarke; Ingrid Mazanti; Leigh B Waddell; Yakov Fellig; Nicola Foulds; Haider Katifi; Richard Webster; Olayinka Raheem; Bjarne Udd; Zohar Argov; Anders Oldfors
Journal:  Eur J Hum Genet       Date:  2013-11-06       Impact factor: 4.246

6.  Thick and thin filament gene mutations in striated muscle diseases.

Authors:  Homa Tajsharghi
Journal:  Int J Mol Sci       Date:  2008-07-16       Impact factor: 6.208

7.  Myosin assembly, maintenance and degradation in muscle: Role of the chaperone UNC-45 in myosin thick filament dynamics.

Authors:  Torah M Kachur; David B Pilgrim
Journal:  Int J Mol Sci       Date:  2008-09-19       Impact factor: 6.208

8.  Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Authors:  Phillipa J Lamont; William Wallefeld; David Hilton-Jones; Bjarne Udd; Zohar Argov; Alexandru C Barboi; Carsten Bonneman; Kym M Boycott; Kate Bushby; Anne M Connolly; Nicholas Davies; Alan H Beggs; Gerald F Cox; Jahannaz Dastgir; Elizabeth T DeChene; Rebecca Gooding; Heinz Jungbluth; Nuria Muelas; Johanna Palmio; Sini Penttilä; Eric Schmedding; Tiina Suominen; Volker Straub; Christopher Staples; Peter Y K Van den Bergh; Juan J Vilchez; Kathryn R Wagner; Patricia G Wheeler; Elizabeth Wraige; Nigel G Laing
Journal:  Hum Mutat       Date:  2014-05-21       Impact factor: 4.878

9.  A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs.

Authors:  Leonardo Murgiano; Imke Tammen; Barbara Harlizius; Cord Drögemüller
Journal:  BMC Genet       Date:  2012-11-15       Impact factor: 2.797

Review 10.  Myosinopathies: pathology and mechanisms.

Authors:  Homa Tajsharghi; Anders Oldfors
Journal:  Acta Neuropathol       Date:  2012-08-05       Impact factor: 17.088
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