Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Alexandra Cirnu"'
Autor:
Anna Janz, Katharina Walz, Alexandra Cirnu, Jessica Surjanto, Daniela Urlaub, Miriam Leskien, Michael Kohlhaas, Alexander Nickel, Theresa Brand, Naoko Nose, Philipp Wörsdörfer, Nicole Wagner, Takahiro Higuchi, Christoph Maack, Jan Dudek, Kristina Lorenz, Eva Klopocki, Süleyman Ergün, Henry J. Duff, Brenda Gerull
Publikováno v:
Molecular Metabolism, Vol 79, Iss , Pp 101859- (2024)
Background: Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from truncating mutations in DNAJC19, which encodes an inner mitochondrial membrane protein. Clinical features include an early onset, often life-threate
Externí odkaz:
https://doaj.org/article/6548eb7053f84f48be1c05ed1eeff5e5
Autor:
Anna Janz, Miriam Zink, Alexandra Cirnu, Annika Hartleb, Christina Albrecht, Simone Rost, Eva Klopocki, Katharina Günther, Frank Edenhofer, Süleyman Ergün, Brenda Gerull
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102256- (2021)
Arrhythmogenic cardiomyopathy (ACM) is characterized by fibro-fatty replacement of the myocardium, heart failure and life-threatening ventricular arrhythmias. Causal mutations were identified in genes encoding for proteins of the desmosomes, predomin
Externí odkaz:
https://doaj.org/article/c9b7e61b9d5a46ac936d46bd71c5186a
Autor:
Ruping Chen, Simone Buchmann, Amos Kroth, Anahi-Paula Arias-Loza, Michael Kohlhaas, Nicole Wagner, Gianna Grüner, Alexander Nickel, Alexandra Cirnu, Tatjana Williams, Christoph Maack, Süleyman Ergün, Stefan Frantz, Brenda Gerull
Publikováno v:
Circulation Research. 132
Background: Nuclear envelope proteins play an important role in the pathogenesis of hereditary cardiomyopathies. Recently, a new form of arrhythmic cardiomyopathy caused by a homozygous mutation (p.L13R) in the inner nuclear membrane protein LEMD2 wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf9ade0351d06e262b7c1c2fd95ffb03
https://doi.org/10.1161/circresaha.122.321929
https://doi.org/10.1161/circresaha.122.321929
Autor:
Brenda Gerull, Anna Janz, Katharina Walz, Albert Busch, Konstantinos Kolokotronis, Tatjana Williams, Simone Rost, Anne Kilinç, Alexandra Cirnu
Publikováno v:
Circulation: Genomic and Precision Medicine. 14
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00ea59478ae415dcac2373770f8a49f7
https://doi.org/10.1161/circgen.120.003217
https://doi.org/10.1161/circgen.120.003217