Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Wolfgang, Muss"'
Autor:
Stefan Hainzl, Thomas Lettner, Patricia Peking, Ulrich Koller, F.J. Poetschke, Wolfgang Muss, Sophie Kitzmueller, Jenny Breitenbach, Verena Wally, Julia Reichelt, Thomas Kocher, Michael Ablinger, Johann W. Bauer
Publikováno v:
The British Journal of Dermatology
Summary Background Generalized severe epidermolysis bullosa simplex (EBS‐gen sev) is a genetic blistering skin disease in which autosomal dominant mutations in either the keratin KRT5 or KRT14 genes lead to impaired function of the intermediate fil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebaa60fd72e2f262789ba452b01a7ec6
https://doi.org/10.1111/bjd.17075
https://doi.org/10.1111/bjd.17075
Autor:
Wolfgang Muss, Anders Oldfors, Johannes Mayr, Michael Huemer, Wolfgang Sperl, Holger Förster, Adrian Kamper, Carmen Idriceanu, Ali-Reza Moslemi
Publikováno v:
Neuromuscular Disorders. 16:874-877
We describe a 7-year-old girl who presented with loss of appetite, weakness and excercise intolerance. Enzyme investigation of the respiratory chain in muscle tissue revealed a combined complex I, III and IV deficiency. A novel heteroplasmic G-->A ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e01e6506a56ebd73dab871c1b93c923d
https://doi.org/10.1016/j.nmd.2006.08.010
https://doi.org/10.1016/j.nmd.2006.08.010
Autor:
Martin Laimer, Johannes Hachleitner, G. Pohla-Gubo, Elke Sadler, Rudolf J. Stadlhuber, Wolfgang Muss, Alfred Klausegger, Helmut Hintner, Johann W. Bauer, Anja Diem
Publikováno v:
Journal der Deutschen Dermatologischen Gesellschaft. 3:359-363
During early odontogenesis the basement membrane is known to be important in epithelio-mesenchymal interactions. Mutations in the gene of one of the major structural proteins of the basement membrane such as laminin 5 might therefore be expected eith
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d300eec267af4ba8c2551cac68f86d1e
https://doi.org/10.1111/j.1610-0387.2005.05703.x
https://doi.org/10.1111/j.1610-0387.2005.05703.x
Autor:
Günther Grabner, H Hintner, Wolfgang Muss, Johann W. Bauer, R. Hametner, H. Schaeppi, G. Pohla-Gubo, Dieter Metze, J. Ruckhofer
Publikováno v:
British Journal of Dermatology. 141:887-892
Summary Epidermolysis bullosa acquisita (EBA) is an autoimmune bullous disease with frequent ocular involvement, but visual loss is rare. In contrast, EBA patients with predominant IgA autoantibodies more frequently develop severe ocular involvement,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cdec308f2493ee5c99a4782c1626904
https://doi.org/10.1046/j.1365-2133.1999.03163.x
https://doi.org/10.1046/j.1365-2133.1999.03163.x
Autor:
Wolfgang Muss
Publikováno v:
Microscopy Today. 6:20-23
Silicone rubber embedding molds may be inexpensive In North America, but are not necessarily so elsewhere in the world. Further, commercial molds are available only in standard sizes and only with standard sizes and shapes of cavities for specimen em
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::349f63428da2be3e5b35cd47346aed55
https://doi.org/10.1017/s1551929500069194
https://doi.org/10.1017/s1551929500069194
Autor:
E. Sadler, Michael Emberger, V. Wally, A. Klausegger, CM Lanschuetzer, H Hintner, G. Pohla-Gubo, Wolfgang Muss, Martin Laimer, Johann W. Bauer, R. Hametner, K. Oender, J. Koller
Publikováno v:
British Journal of Dermatology. 154:185-187
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1273e70f77be8933e29de950089a67b
https://doi.org/10.1111/j.1365-2133.2005.06988.x
https://doi.org/10.1111/j.1365-2133.2005.06988.x
Autor:
Johann W. Bauer, Elena Enzo, Wolfgang Muss, M. De Luca, L. De Rosa, Eva M. Murauer, Elisabeth Mayr, Josef Koller, Sonia Carulli, Graziella Pellegrini
Publikováno v:
Journal of Investigative Dermatology. 136:S189
164 CRISPR/Cas9-mediated gene repair in the COL7A1 gene S Hainzl, T Kocher, EM Murauer, F Larcher, M Steiner, JW Bauer, J Reichelt and U Koller 1 EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, U
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23638e57c4b23a9f081a4bd15f935678
https://doi.org/10.1016/j.jid.2016.06.187
https://doi.org/10.1016/j.jid.2016.06.187
Autor:
Ulrike Körmöczi, Herbert Budka, D. Luckner, Johannes A. Mayr, Gerhard J. Zlabinger, H. Bernheimer, Günther Regelsberger, Romana Höftberger, Olaf Bodamer, Winfried F. Pickl, U. Salzer-Muhar, Wolfgang Muss
Publikováno v:
Journal of inherited metabolic disease. 32
Danon disease is an X-linked disorder resulting from mutations in the lysosome-associated membrane protein-2 (LAMP2) gene. We report a male patient with skeletal myopathy, mental retardation, and massive hypertrophic obstructive cardiomyopathy necess
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ac6405222287fb710ef716cdd862ec
https://pubmed.ncbi.nlm.nih.gov/19588270
https://pubmed.ncbi.nlm.nih.gov/19588270
Autor:
Wolfgang Muss, Alfred Klausegger, Johann W. Bauer, Elke Sadler, Martin Laimer, G. Pohla-Gubo, CM Lanschuetzer, Helmut Hintner, Ursula Deinsberger
Publikováno v:
Archives of dermatology. 142(12)
Background Kindler syndrome (online Mendelian Inheritance in Man No. 173650) is an autosomal recessive genodermatosis characterized by acral trauma-induced blistering that improves with age and by progressive poikiloderma in later life. Other clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9855d840c6e08ff4418307e71c7fa15e
https://pubmed.ncbi.nlm.nih.gov/17178989
https://pubmed.ncbi.nlm.nih.gov/17178989
Autor:
Hana Hansikova, Wolfgang Muss, Houst'ková H, Josef Houštěk, Andrea Pícková, Johannes Koch, R. Vancoster, Joél Smet, Z. Krejčík, Jiri Zeman, L. DeMeirleir, Wolfgang Sperl, Elisabeth Holme, Johannes A. Mayr, Pavel Ješina
Publikováno v:
BASE-Bielefeld Academic Search Engine
We present clinical and laboratory data from 14 cases with an isolated deficiency of the mitochondrial ATP synthase (7-30% of control) caused by nuclear genetic defects. A quantitative decrease of the ATP synthase complex was documented by Blue-Nativ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cf6bddaec15f0bb8e1ac9963ed07684
https://pubmed.ncbi.nlm.nih.gov/17052906
https://pubmed.ncbi.nlm.nih.gov/17052906