Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Felix Distel"'
Autor:
Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Distelmaier, Ana Pop, Nicole I. Wolf, Annet M. Bosch
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 233-238 (2024)
Abstract Riboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction. Most patients present in early childhood; if patients present later in life
Externí odkaz:
https://doaj.org/article/fed9c733ea2a4ea1b33d7351da7e181c
Autor:
Jochen Dobner, Thach Nguyen, Mario Gustavo Pavez-Giani, Lukas Cyganek, Felix Distelmaier, Jean Krutmann, Alessandro Prigione, Andrea Rossi
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 2, Pp 101231- (2024)
Mitochondrial DNA (mtDNA) analysis is crucial for the diagnosis of mitochondrial disorders, forensic investigations, and basic research. Existing pipelines are complex, expensive, and require specialized personnel. In many cases, including the diagno
Externí odkaz:
https://doaj.org/article/d31d09eb2eb54ccb8689a2489ed1f56a
Publikováno v:
Journal of Applied Non-Classical Logics. 26:1-46
Description logic knowledge bases can be used to represent knowledge about a particular domain in a formal and unambiguous manner. Their practical relevance has been shown in many research areas, especially in biology and the Semantic Web. However, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49c379a4f99847f2a9c3b87c8a7fb13a
https://doi.org/10.1080/11663081.2016.1168230
https://doi.org/10.1080/11663081.2016.1168230
Autor:
Carmen Menacho, Satoshi Okawa, Laura Petersilie, Annette Seibt, Markus Schülke, Felix Distelmaier, Christine R. Rose, Antonio Del Sol, Alessandro Prigione
Publikováno v:
IBRO Neuroscience Reports, Vol 15, Iss , Pp S188- (2023)
Externí odkaz:
https://doaj.org/article/c5f67a05b81945489eb9f13d3e3acc3b
Publikováno v:
Annals of Mathematics and Artificial Intelligence. 70:25-53
A central task in formal concept analysis is the enumeration of a small base for the implications that hold in a formal context. The usual stem base algorithms have been proven to be costly in terms of runtime. Proper premises are an alternative to t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::caf4224cf1d38133c17d555a42085f70
https://doi.org/10.1007/s10472-013-9355-9
https://doi.org/10.1007/s10472-013-9355-9
Autor:
Tharsini Navaratnarajah, Marlen Bellmann, Annette Seibt, Ruchika Anand, Özer Degistirici, Roland Meisel, Ertan Mayatepek, Andreas Reichert, Fabian Baertling, Felix Distelmaier
Publikováno v:
Stem Cell Research & Therapy, Vol 13, Iss 1, Pp 1-10 (2022)
Abstract The most frequent biochemical defect of inherited mitochondrial disease is isolated complex I deficiency. There is no cure for this disorder, and treatment is mainly supportive. In this study, we investigated the effects of human mesenchymal
Externí odkaz:
https://doaj.org/article/c56be867ce0047c3ab3933fd392a5a64
Autor:
Alina, Petrova, Ma, Yue, George, Tsatsaronis, Maria, Kissa, Felix, Distel, Baader, Franz, Schroeder, Michael
Publikováno v:
Journal of Biomedical Semantics
Journal of Biomedical Semantics, BioMed Central, 2015, pp.24. ⟨10.1186/s13326-015-0015-3⟩
Journal of Biomedical Semantics, BioMed Central, 2015, pp.24. ⟨10.1186/s13326-015-0015-3⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::00ba12930f8db10e32b328bca105b001
https://hal.archives-ouvertes.fr/hal-01138987
https://hal.archives-ouvertes.fr/hal-01138987
Fuzzy description logics (DLs) can be used to represent and reason with vague knowledge. This family of logical formalisms is very diverse, each member being characterized by a specific choice of constructors, axioms, and triangular norms, which are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3953a2cb251b611e55db742ca86fc4e6
http://hdl.handle.net/10281/257927
http://hdl.handle.net/10281/257927
Autor:
Silvia Maglioni, Alfonso Schiavi, Marlen Melcher, Vanessa Brinkmann, Zhongrui Luo, Anna Laromaine, Nuno Raimundo, Joel N. Meyer, Felix Distelmaier, Natascia Ventura
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)
Mitochondrial deficiency causes rare incurable disorders. Here, the authors use C. elegans to study these diseases and find that the natural compound lutein prevents neurodevelopmental deficits, thus pointing to a possible therapeutic target for the
Externí odkaz:
https://doaj.org/article/58b5a0011c434f13b5493957dc295694
Autor:
Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
Abstract Background Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studi
Externí odkaz:
https://doaj.org/article/c84ca93f6ba94f7fa60fa360f03b6d83