Literature DB >> 23575897

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.

Matthew Henderson, Liesbeth De Waele, Judith Hudson, Michelle Eagle, Caroline Sewry, Julie Marsh, Richard Charlton, Langping He, Emma L Blakely, Iain Horrocks, William Stewart, Robert W Taylor, Cheryl Longman, Kate Bushby, Rita Barresi.   

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Year:  2013        PMID： 23575897     DOI： 10.1007/s00401-013-1113-x

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


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  20 in total

Review 1.  Myofibrillar myopathies: new developments.

Authors:  Montse Olivé; Rudolf A Kley; Lev G Goldfarb
Journal:  Curr Opin Neurol       Date:  2013-10       Impact factor: 5.710

2.  Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.

Authors:  Lisa G Riley; Leigh B Waddell; Roula Ghaoui; Frances J Evesson; Beryl B Cummings; Samantha J Bryen; Himanshu Joshi; Min-Xia Wang; Susan Brammah; Leonard Kritharides; Alastair Corbett; Daniel G MacArthur; Sandra T Cooper
Journal:  Eur J Hum Genet       Date:  2019-04-25       Impact factor: 4.246

Review 3.  Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Authors:  Andreas Brodehl; Anna Gaertner-Rommel; Hendrik Milting
Journal:  Biophys Rev       Date:  2018-06-20

4.  A mutation in desmin makes skeletal muscle less vulnerable to acute muscle damage after eccentric loading in rats.

Authors:  Henning T Langer; Agata A Mossakowski; Alec M Avey; Ross P Wohlgemuth; Lucas R Smith; Herman Zbinden-Foncea; Keith Baar
Journal:  FASEB J       Date:  2021-09       Impact factor: 5.834

5.  Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA.

Authors:  Elizabeth M McCormick; Lawrence Kenyon; Marni J Falk
Journal:  Front Genet       Date:  2015-06-05       Impact factor: 4.599

6.  The toxic effect of R350P mutant desmin in striated muscle of man and mouse.

Authors:  Christoph S Clemen; Florian Stöckigt; Karl-Heinz Strucksberg; Frederic Chevessier; Lilli Winter; Johanna Schütz; Ralf Bauer; José-Manuel Thorweihe; Daniela Wenzel; Ursula Schlötzer-Schrehardt; Volker Rasche; Pavle Krsmanovic; Hugo A Katus; Wolfgang Rottbauer; Steffen Just; Oliver J Müller; Oliver Friedrich; Rainer Meyer; Harald Herrmann; Jan Wilko Schrickel; Rolf Schröder
Journal:  Acta Neuropathol       Date:  2014-11-14       Impact factor: 17.088

7.  A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein.

Authors:  Rashmi Santhoshkumar; Veeramani Preethish-Kumar; Kiran Polavarapu; Dinesh Reghunathan; Sima Chaudhari; Kapaettu Satyamoorthy; Seena Vengalil; Saraswati Nashi; Muhammed Faruq; Aditi Joshi; Nalini Atchayaram; Gayathri Narayanappa
Journal:  J Mol Neurosci       Date:  2021-06-09       Impact factor: 3.444

8.  Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

Authors:  Heather M McLaughlin; Melissa A Kelly; Pamela P Hawley; Basil T Darras; Birgit Funke; Jonathan Picker
Journal:  BMC Med Genet       Date:  2013-07-02       Impact factor: 2.103

9.  Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

Authors:  Anna-Lena Semmler; Sabrina Sacconi; J Elisa Bach; Claus Liebe; Jan Bürmann; Rudolf A Kley; Andreas Ferbert; Roland Anderheiden; Peter Van den Bergh; Jean-Jacques Martin; Peter De Jonghe; Eva Neuen-Jacob; Oliver Müller; Marcus Deschauer; Markus Bergmann; J Michael Schröder; Matthias Vorgerd; Jörg B Schulz; Joachim Weis; Wolfram Kress; Kristl G Claeys
Journal:  Orphanet J Rare Dis       Date:  2014-08-01       Impact factor: 4.123

10.  Mitochondrial dysfunction in myofibrillar myopathy.

Authors:  Amy E Vincent; John P Grady; Mariana C Rocha; Charlotte L Alston; Karolina A Rygiel; Rita Barresi; Robert W Taylor; Doug M Turnbull
Journal:  Neuromuscul Disord       Date:  2016-08-10       Impact factor: 4.296
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