Functional characterization of desmin mutant p.P419S

Brodehl A, Dieding M, Cakar H, Klauke B, Walhorn V, Gummert J, Anselmetti D, Milting H (2013)
European journal of human genetics : EJHG 21(6): 589-590.

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Brodehl A, Dieding M, Cakar H, et al. Functional characterization of desmin mutant p.P419S. European journal of human genetics : EJHG. 2013;21(6):589-590.
Brodehl, A., Dieding, M., Cakar, H., Klauke, B., Walhorn, V., Gummert, J., Anselmetti, D., et al. (2013). Functional characterization of desmin mutant p.P419S. European journal of human genetics : EJHG, 21(6), 589-590.
Brodehl, A., Dieding, M., Cakar, H., Klauke, B., Walhorn, V., Gummert, J., Anselmetti, D., and Milting, H. (2013). Functional characterization of desmin mutant p.P419S. European journal of human genetics : EJHG 21, 589-590.
Brodehl, A., et al., 2013. Functional characterization of desmin mutant p.P419S. European journal of human genetics : EJHG, 21(6), p 589-590.
A. Brodehl, et al., “Functional characterization of desmin mutant p.P419S”, European journal of human genetics : EJHG, vol. 21, 2013, pp. 589-590.
Brodehl, A., Dieding, M., Cakar, H., Klauke, B., Walhorn, V., Gummert, J., Anselmetti, D., Milting, H.: Functional characterization of desmin mutant p.P419S. European journal of human genetics : EJHG. 21, 589-590 (2013).
Brodehl, Andreas, Dieding, Mareike, Cakar, Hamdin, Klauke, Bärbel, Walhorn, Volker, Gummert, Jan, Anselmetti, Dario, and Milting, Hendrik. “Functional characterization of desmin mutant p.P419S”. European journal of human genetics : EJHG 21.6 (2013): 589-590.
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2 Citations in Europe PMC

Data provided by Europe PubMed Central.

Apertureless scanning near-field optical microscopy of sparsely labeled tobacco mosaic viruses and the intermediate filament desmin.
Harder A, Dieding M, Walhorn V, Degenhard S, Brodehl A, Wege C, Milting H, Anselmetti D., Beilstein J Nanotechnol 4(), 2013
PMID: 24062977
Reply to Brodehl et al.
Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A., Eur. J. Hum. Genet. 21(6), 2013
PMID: 23032113

6 References

Data provided by Europe PubMed Central.

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
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Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.
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Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
Brodehl A, Hedde PN, Dieding M, Fatima A, Walhorn V, Gayda S, Saric T, Klauke B, Gummert J, Anselmetti D, Heilemann M, Nienhaus GU, Milting H., J. Biol. Chem. 287(19), 2012
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De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H., Hum. Mol. Genet. 19(23), 2010
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Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.
Vernengo L, Chourbagi O, Panuncio A, Lilienbaum A, Batonnet-Pichon S, Bruston F, Rodrigues-Lima F, Mesa R, Pizzarossa C, Demay L, Richard P, Vicart P, Rodriguez MM., Neuromuscul. Disord. 20(3), 2010
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