Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ann-Kathrin Zaum"'
Autor:
Biniam Melese Bekele, Elisabetta Gazzerro, Felix Schoenrath, Volkmar Falk, Simone Rost, Selina Hoerning, Yvonne Jelting, Ann-Kathrin Zaum, Simone Spuler, Jan Knierim
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 14, p 7819 (2024)
(1) Heart transplantation (HTX) improves the overall survival and functional status of end-stage heart failure patients with cardiomyopathies (CMPs). The majority of CMPs have genetic causes, and the overlap between CMPs and inherited myopathies is w
Externí odkaz:
https://doaj.org/article/782525b5c833412a984689c6f92177cd
Autor:
Natalie Pluta, Arpad von Moers, Astrid Pechmann, Werner Stenzel, Hans-Hilmar Goebel, David Atlan, Beat Wolf, Indrajit Nanda, Ann-Kathrin Zaum, Simone Rost
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 17, p 13567 (2023)
Dystrophinopathies are the most common muscle diseases, especially in men. In women, on the other hand, a manifestation of Duchenne muscular dystrophy is rare due to X-chromosomal inheritance. We present two young girls with severe muscle weakness, m
Externí odkaz:
https://doaj.org/article/94803918dad14bd78dcaafe650fffe6f
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)
Abstract Background Dystrophinopathies caused by variants in the DMD gene are a well‐studied muscle disease. The most common type of variant in DMD are large deletions. Very rarely reported forms of variants are chromosomal translocations, inversio
Externí odkaz:
https://doaj.org/article/01e72dc3739a4d2cb76bdb7449395b38
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-7 (2021)
Abstract Background The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes
Externí odkaz:
https://doaj.org/article/7fa80639c0124d44ab21654d9e811e30
Autor:
Natalie Pluta, Sabine Hoffjan, Frederic Zimmer, Cornelia Köhler, Thomas Lücke, Jennifer Mohr, Matthias Vorgerd, Hoa Huu Phuc Nguyen, David Atlan, Beat Wolf, Ann-Kathrin Zaum, Simone Rost
Publikováno v:
Genes, Vol 13, Iss 10, p 1752 (2022)
New techniques in molecular genetic diagnostics now allow for accurate diagnosis in a large proportion of patients with muscular diseases. Nevertheless, many patients remain unsolved, although the clinical history and/or the muscle biopsy give a clea
Externí odkaz:
https://doaj.org/article/1e52ed2aebce413a9bcd5e7f65fdbac5
Autor:
Ann-Kathrin Zaum, Hans-Hilmar Goebel, Simone Rost, Konstantinos Kolokotronis, Jürgen Seeger, Wolfram Kress
Publikováno v:
Neuromuscular Disorders. 28:671-674
Dystroglycanopathies are a diverse group of neuromuscular disorders caused by aberrant glycosylation of alpha-dystroglycan. TMEM5 is one of many glycosyltransferases recently described to be associated with alpha-dystroglycanopathies. We report the c
Autor:
Ulrike Schara, Wolfram Kress, Simone Rost, Andrea Gehrig, Burkhard Stüve, Ann-Kathrin Zaum, Heike Kölbel
Dystrophinopathies are X-linked muscle diseases caused by mutations in the large DMD gene. The most common mutations are detected by standard diagnostic techniques. However, some patients remain without detectable mutation, most likely due to changes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aa7dd8f962b38e3bec2b9fafde0cd45
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85019016697
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85019016697