Literature DB >> 19477645

165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

B Udd1.   

Abstract

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Year:  2009        PMID： 19477645     DOI： 10.1016/j.nmd.2009.04.002

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  16 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.  A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.

Authors:  Byung-Ok Choi; Sung Hee Kang; Young Se Hyun; Sumaria Kanwal; Sun Wha Park; Heasoo Koo; Sang-Beom Kim; Young-Chul Choi; Jeong Hyun Yoo; Jong-Won Kim; Kee Duk Park; Kyoung-Gyu Choi; Song Ja Kim; Stephan Züchner; Ki Wha Chung
Journal:  Hum Mutat       Date:  2011-04-07       Impact factor: 4.878

3.  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

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.  Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.

Authors:  Sebahattin Cirak; Florian von Deimling; Shrikesh Sachdev; Wesley J Errington; Ralf Herrmann; Carsten Bönnemann; Knut Brockmann; Stephan Hinderlich; Tom H Lindner; Alice Steinbrecher; Katrin Hoffmann; Gilbert G Privé; Mark Hannink; Peter Nürnberg; Thomas Voit
Journal:  Brain       Date:  2010-06-16       Impact factor: 13.501

Review 6.  Distal myopathies.

Authors:  Mazen M Dimachkie; Richard J Barohn
Journal:  Neurol Clin       Date:  2014-05-15       Impact factor: 3.806

7.  Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

Authors:  Rachael M Duff; Valerie Tay; Peter Hackman; Gianina Ravenscroft; Catriona McLean; Paul Kennedy; Alina Steinbach; Wiebke Schöffler; Peter F M van der Ven; Dieter O Fürst; Jaeguen Song; Kristina Djinović-Carugo; Sini Penttilä; Olayinka Raheem; Katrina Reardon; Alessandro Malandrini; Simona Gambelli; Marcello Villanova; Kristen J Nowak; David R Williams; John E Landers; Robert H Brown; Bjarne Udd; Nigel G Laing
Journal:  Am J Hum Genet       Date:  2011-05-27       Impact factor: 11.025

8.  Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.

Authors:  Fiona L M Norwood; Chris Harling; Patrick F Chinnery; Michelle Eagle; Kate Bushby; Volker Straub
Journal:  Brain       Date:  2009-09-18       Impact factor: 13.501

9.  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

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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