Literature DB >> 23032110

Functional characterization of desmin mutant p.P419S.

Andreas Brodehl, Mareike Dieding, Hamdin Cakar, Bärbel Klauke, Volker Walhorn, Jan Gummert, Dario Anselmetti, Hendrik Milting.   

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Year:  2012        PMID： 23032110      PMCID： PMC3658197          DOI： 10.1038/ejhg.2012.212

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  6 in total

1.  Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.

Authors:  Andreas Brodehl; Per Niklas Hedde; Mareike Dieding; Azra Fatima; Volker Walhorn; Susan Gayda; Tomo Šarić; Bärbel Klauke; Jan Gummert; Dario Anselmetti; Mike Heilemann; Gerd Ulrich Nienhaus; Hendrik Milting
Journal:  J Biol Chem       Date:  2012-03-08       Impact factor: 5.157

2.  Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.

Authors:  Carola Hedberg; Atle Melberg; Angelika Kuhl; Dieter Jenne; Anders Oldfors
Journal:  Eur J Hum Genet       Date:  2012-03-07       Impact factor: 4.246

3.  Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.

Authors:  A Melberg; A Oldfors; C Blomström-Lundqvist; E Stålberg; B Carlsson; E Larrson; C Lidell; K E Eeg-Olofsson; G Wikström; G Henriksson; N Dahl
Journal:  Ann Neurol       Date:  1999-11       Impact factor: 10.422

4.  De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Authors:  Baerbel Klauke; Sabine Kossmann; Anna Gaertner; Kristina Brand; Ines Stork; Andreas Brodehl; Mareike Dieding; Volker Walhorn; Dario Anselmetti; Désirée Gerdes; Birte Bohms; Uwe Schulz; Edzard Zu Knyphausen; Matthias Vorgerd; Jan Gummert; Hendrik Milting
Journal:  Hum Mol Genet       Date:  2010-09-09       Impact factor: 6.150

5.  Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.

Authors:  Luis Vernengo; Oussama Chourbagi; Ana Panuncio; Alain Lilienbaum; Sabrina Batonnet-Pichon; Francine Bruston; Fernando Rodrigues-Lima; Rosario Mesa; Carlos Pizzarossa; Laurence Demay; Pascale Richard; Patrick Vicart; Maria-Mirta Rodriguez
Journal:  Neuromuscul Disord       Date:  2010-02-04       Impact factor: 4.296

6.  Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.

Authors:  Montse Olivé; Judith Armstrong; Francesc Miralles; Adolf Pou; Michel Fardeau; Laura Gonzalez; Francesca Martínez; Dirk Fischer; Juan Antonio Martínez Matos; Alexey Shatunov; Lev Goldfarb; Isidre Ferrer
Journal:  Neuromuscul Disord       Date:  2007-04-05       Impact factor: 4.296
  6 in total
  3 in total

1.  Reply to Brodehl et al.

Authors:  Carola Hedberg; Atle Melberg; Angelika Kuhl; Dieter Jenne; Anders Oldfors
Journal:  Eur J Hum Genet       Date:  2012-10-03       Impact factor: 4.246

Review 2.  Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

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

3.  Apertureless scanning near-field optical microscopy of sparsely labeled tobacco mosaic viruses and the intermediate filament desmin.

Authors:  Alexander Harder; Mareike Dieding; Volker Walhorn; Sven Degenhard; Andreas Brodehl; Christina Wege; Hendrik Milting; Dario Anselmetti
Journal:  Beilstein J Nanotechnol       Date:  2013-09-11       Impact factor: 3.649
  3 in total

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