Literature DB >> 23032113

Reply to Brodehl et al.

Carola Hedberg, Atle Melberg, Angelika Kuhl, Dieter Jenne, Anders Oldfors.   

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Year:  2012        PMID： 23032113      PMCID： PMC3658190          DOI： 10.1038/ejhg.2012.214

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


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  4 in total

1.  Functional characterization of desmin mutant p.P419S.

Authors:  Andreas Brodehl; Mareike Dieding; Hamdin Cakar; Bärbel Klauke; Volker Walhorn; Jan Gummert; Dario Anselmetti; Hendrik Milting
Journal:  Eur J Hum Genet       Date:  2012-10-03       Impact factor: 4.246

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.  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
  4 in total
  1 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
  1 in total

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