Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Franziska, Mühlhause"'
Autor:
Thomas Flegel, Marion Kornberg, Franziska Mühlhause, Sophie Neumann, Andrea Fischer, Franziska Wielaender, Florian König, Akos Pakozdy, Pia R. Quitt, Andrea M. Trapp, Konrad Jurina, Frank Steffen, Kai W. Rentmeister, Cornelia Flieshardt, Josephine Dietzel
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 35, Iss 5, Pp 2359-2365 (2021)
Abstract Background Clinical signs and their progression in Beagles with Lafora disease are poorly described. Objectives To describe clinical signs in Beagles with Lafora disease. Animals Twenty‐eight Beagles with Lafora disease confirmed by geneti
Externí odkaz:
https://doaj.org/article/de4ffd279aa04795bec19d5565eee2bc
Autor:
Vincent Lepori, Franziska Mühlhause, Adrian C. Sewell, Vidhya Jagannathan, Nils Janzen, Marco Rosati, Filipe Miguel Maximiano Alves de Sousa, Aurélie Tschopp, Gertraud Schüpbach, Kaspar Matiasek, Andrea Tipold, Tosso Leeb, Marion Kornberg
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 8, Iss 5, Pp 1545-1554 (2018)
Several enzymes are involved in fatty acid oxidation, which is a key process in mitochondrial energy production. Inherited defects affecting any step of fatty acid oxidation can result in clinical disease. We present here an extended family of German
Externí odkaz:
https://doaj.org/article/49923d882cad4f93915e03840e17cddc
Autor:
Franziska Mühlhause, Marion Kornberg, Tosso Leeb, Andrea Tipold, Karl Rohn, Vincent Lepori, Adrian C. Sewell
Publikováno v:
Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere. 47:402-410
Zusammenfassung Gegenstand und Ziel Die belastungsabhängige metabolische Myopathie beim Deutschen Jagdterrier ist eine autosomal-rezessive Erbkrankheit, die aufgrund einer Punktmutation zu einem Enzymdefekt der sehr langkettigen Acyl-CoA-Dehydrogena
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::efaee4e2ada0640c1ffa0a237e8480bf
https://doi.org/10.1055/a-1027-2533
https://doi.org/10.1055/a-1027-2533
Autor:
Franziska Mühlhause, Vidhya Jagannathan, Marco Rosati, Gertraud Schüpbach, Aurélie Tschopp, Vincent Lepori, Kaspar Matiasek, Andrea Tipold, Tosso Leeb, Nils Janzen, Marion Kornberg, Filipe Maximiano Sousa, Adrian C. Sewell
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 8, Iss 5, Pp 1545-1554 (2018)
Several enzymes are involved in fatty acid oxidation, which is a key process in mitochondrial energy production. Inherited defects affecting any step of fatty acid oxidation can result in clinical disease. We present here an extended family of German
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55cfd003c82e2a2c9779b94ecd33b257
https://doi.org/10.1534/g3.118.200084
https://doi.org/10.1534/g3.118.200084
Autor:
Franziska, Mühlhause, Andrea, Tipold, Karl, Rohn, Vincent, Lepori, Tosso, Leeb, Adrian C, Sewell, Marion, Kornberg
Publikováno v:
Tierarztliche Praxis. Ausgabe K, Kleintiere/Heimtiere. 47(6)
Exercise induced metabolic myopathy in German Hunting Terrier dogs is an autosomal-recessively inherited disorder, caused by a nonsense variant of the gene encoding for the very long-chain acyl-CoA-dehydrogenase (VLCAD) enzyme. Clinical signs include
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c62b27930d55091edb63efd80c1e781b
https://pubmed.ncbi.nlm.nih.gov/31814088
https://pubmed.ncbi.nlm.nih.gov/31814088