Zobrazeno 1 - 10
of 217
pro vyhledávání: '"Wolfram Kreß"'
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:
Alexis S. Mahyera, Tamara Schneider, Birgit Halliger-Keller, Katja Schrooten, Eva-Maria Hörner, Simone Rost, Wolfram Kress
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Autosomal dominant inherited Myotonic dystrophy type 1 and 2 (DM1 and DM2) are the most frequent muscle dystrophies in the European population and are caused by repeat expansion mutations. For Germany cumulative empiric evidence suggests an estimated
Externí odkaz:
https://doaj.org/article/9f0ce65863e34bd4a9214011092c40aa
Autor:
Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S Cowling, G Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte
Publikováno v:
PLoS Genetics, Vol 9, Iss 6, p e1003430 (2013)
Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly pro
Externí odkaz:
https://doaj.org/article/71fae5c4ad8148558d23d0f165d773f4
Autor:
Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S. Cowling, G. Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte
Publikováno v:
PLoS Genetics, Vol 9, Iss 6 (2013)
Externí odkaz:
https://doaj.org/article/0b45c76fc9c1440787fe2458341a8ccd
Autor:
Wolfram Kress, Joachim Hellemann, Josef Bäuml, Arne Manzeschke, Orsolya Genzel-Boroviczény, Ursula Zollner, Carola Mägdefrau, Joseph Pettinger, Esther Rieger-Fackeldey, Orsolya Friedrich, Dunja Robin, Nina Rogenhofer, Oliver Pogarell, Christine Zweier, Gerhardt H Schlund, Thomas Bannasch
Publikováno v:
Dtsch Arztebl Int
Autor:
Yvonne Leber, Britta Eggers, Zacharias Orfanos, Kristina Djinović-Carugo, Julius Kostan, Peter F.M. van der Ven, Adekunle Onipe, Matthias Vorgerd, Anne Katrin Güttsches, Wolfram Kress, Rudolf A. Kley, Heidi Zhuge, Dieter O. Fürst, Frank Jacobsen, Katrin Marcus, Dominik Sellung, Bertold Schrank
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveTo determine whether a new indel mutation in the dimerization domain of filamin C (FLNc) causes a hereditary myopathy with protein aggregation in muscle fibers, we clinically and molecularly studied a German family with autosomal dominant my
Autor:
Wolfram Kress, Ana Töpf, Katherine Johnson, Peter F.M. van der Ven, Teresinha Evangelista, Volker Straub, Albert Sickmann, Laxmikanth Kollipara, Joachim Weis, Andreas Roos, Michael R. Wilson, Dieter O. Fürst, Heike Kölbel, Ulrike Schara, Kay Nolte
Filamin C (encoded by the FLNC gene) is a large actin-cross-linking protein involved in shaping the actin cytoskeleton in response to signaling events both at the sarcolemma and at myofibrillar Z-discs of cross-striated muscle cells. Multiple mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c83dc26dd4e68c1d03cb405612801450
https://doi.org/10.1002/humu.24062
https://doi.org/10.1002/humu.24062
Autor:
Ingo Kurth, Andreas Ferbert, Fatima Barbara Koenig, Sabrina Zechel, Karl Christian Knop, Dorothea Mair, Wolfgang Brück, Stefan Nikolin, Wolfram Kress, Angela Abicht, Saskia Biskup, Shelisa Tey, Joachim Weis, Katja Eggermann
Publikováno v:
Brain Pathology
Altered autophagy accompanied by abnormal autophagic (rimmed) vacuoles detectable by light and electron microscopy is a common denominator of many familial and sporadic non‐inflammatory muscle diseases. Even in the era of next generation sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87ca3ae597850fbd7587eba1b2d52859
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-216048
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-216048
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