Literature DB >> 28703267

Restrictive cardiomyopathy due to novel desmin gene mutation.

Natalia Ojrzyńska, Zofia T Bilińska, Maria Franaszczyk, Rafał Płoski, Jacek Grzybowski1.   

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Year:  2017        PMID： 28703267     DOI： 10.5603/KP.2017.0129

Source DB:  PubMed          Journal:  Kardiol Pol        ISSN： 0022-9032            Impact factor:   3.108


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  4 in total

Review 1.  Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

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

Review 2.  Genetic Insights into Primary Restrictive Cardiomyopathy.

Authors:  Andreas Brodehl; Brenda Gerull
Journal:  J Clin Med       Date:  2022-04-08       Impact factor: 4.964

Review 3.  Desmin variants: Trigger for cardiac arrhythmias?

Authors:  Wei Su; Stan W van Wijk; Bianca J J M Brundel
Journal:  Front Cell Dev Biol       Date:  2022-09-09

4.  Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.

Authors:  Andreas Brodehl; Seyed Ahmad Pour Hakimi; Caroline Stanasiuk; Sandra Ratnavadivel; Doris Hendig; Anna Gaertner; Brenda Gerull; Jan Gummert; Lech Paluszkiewicz; Hendrik Milting
Journal:  Genes (Basel)       Date:  2019-11-11       Impact factor: 4.096
  4 in total

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