Literature DB >> 25180003

Clinical reasoning: a 52-year-old woman with progressive proximal weakness.

Sailaja Enduri1, Matthew R G Taylor1, Teerin Liewluck2.   

Abstract

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Year:  2014        PMID： 25180003      PMCID： PMC4153850          DOI： 10.1212/WNL.0000000000000757

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


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  5 in total

Review 1.  Myofibrillar myopathies.

Authors:  Duygu Selcen
Journal:  Neuromuscul Disord       Date:  2011-01-20       Impact factor: 4.296

Review 2.  Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Authors:  Rudolf A Kley; Yorck Hellenbroich; Peter F M van der Ven; Dieter O Fürst; Angela Huebner; Vera Bruchertseifer; Sören A Peters; Christoph M Heyer; Janbernd Kirschner; Rolf Schröder; Dirk Fischer; Klaus Müller; Karen Tolksdorf; Katharina Eger; Alfried Germing; Turgut Brodherr; Conny Reum; Maggie C Walter; Hanns Lochmüller; Uwe-Peter Ketelsen; Matthias Vorgerd
Journal:  Brain       Date:  2007-12       Impact factor: 13.501

3.  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

4.  Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

Authors:  Rudolf A Kley; Piraye Serdaroglu-Oflazer; Yvonne Leber; Zagaa Odgerel; Peter F M van der Ven; Montse Olivé; Isidro Ferrer; Adekunle Onipe; Mariya Mihaylov; Juan M Bilbao; Hee S Lee; Jörg Höhfeld; Kristina Djinović-Carugo; Kester Kong; Martin Tegenthoff; Sören A Peters; Werner Stenzel; Matthias Vorgerd; Lev G Goldfarb; Dieter O Fürst
Journal:  Brain       Date:  2012-09       Impact factor: 13.501

5.  Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

Authors:  Gerald Pfeffer; Rita Barresi; Ian J Wilson; Steven A Hardy; Helen Griffin; Judith Hudson; Hannah R Elliott; Aravind V Ramesh; Aleksandar Radunovic; John B Winer; Sujit Vaidya; Ashok Raman; Mark Busby; Maria E Farrugia; Alec Ming; Chris Everett; Hedley C A Emsley; Rita Horvath; Volker Straub; Kate Bushby; Hanns Lochmüller; Patrick F Chinnery; Anna Sarkozy
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-03-13       Impact factor: 10.154
  5 in total

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