Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Kathrin Jeltsch"'
Autor:
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H. C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-15 (2024)
Abstract Background Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children’s Hospital Intellectual and Developmental Disabilities Researc
Externí odkaz:
https://doaj.org/article/cb335a1bff7e48c685c43cab55795ad8
Autor:
Maximilian Stich, Roland Elling, Hanna Renk, Aleš Janda, Sven F. Garbade, Barbara Müller, Hans-Georg Kräusslich, Dorit Fabricius, Maria Zernickel, Peter Meissner, Daniela Huzly, Jürgen Grulich-Henn, Anneke Haddad, Tessa Görne, Benedikt Spielberger, Linus Fritsch, Alexandra Nieters, Hartmut Hengel, Andrea N. Dietz, Thomas Stamminger, Tina Ganzenmueller, Natalia Ruetalo, Andreas Peter, Jonathan Remppis, Thomas Iftner, Kathrin Jeltsch, Tim Waterboer, Axel R. Franz, Georg Friedrich Hoffmann, Corinna Engel, Klaus-Michael Debatin, Burkhard Tönshoff, Philipp Henneke
Publikováno v:
Emerging Infectious Diseases, Vol 27, Iss 12, Pp 3009-3019 (2021)
Resolving the role of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) transmission in households with members from different generations is crucial for containing the current pandemic. We conducted a large-scale, multicenter, cross-secti
Externí odkaz:
https://doaj.org/article/f06cb653e5b449bba8cbd210a9cf0e81
Autor:
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Inherited disorders of neurotransmitter metabolism represent a group of rare neurometabolic diseases characterized by movement disorders and developmental delay. Here, the authors report a standardized evaluation of a registry of 275 patients from 42
Externí odkaz:
https://doaj.org/article/57ed0d119cac4d23beb8d71a0c1e8d75
Autor:
Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juliá-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici, Stefan Kölker
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases
Externí odkaz:
https://doaj.org/article/dee0fd6aaa314f7da4ba7910516c3f76
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/be41af8128154b17bae7590996d85f93
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
Abstract Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesi
Externí odkaz:
https://doaj.org/article/5335fbb4b17444b0bc5403d7a034e417
Autor:
Alexander Joachim, Felix Dewald, Isabelle Suárez, Michael Zemlin, Isabelle Lang, Regine Stutz, Anna Marthaler, Hans Martin Bosse, Nadine Lübke, Juliane Münch, Marie-Annett Bernard, Kathrin Jeltsch, Burkhard Tönshoff, Niklas Weidner, Hans-Georg Kräusslich, Lena Birzele, Johannes Hübner, Patricia Schmied, Melanie Meyer-Bühn, Gibran Horemheb-Rubio, Oliver A. Cornely, Heinz Haverkamp, Gerhard Wiesmüller, Gerd Fätkenheuer, Barbara Hero, Rolf Kaiser, Jörg Dötsch, Jan Rybniker, Zülfü C. Cosgun, Christoph Hünseler, Jana Schönenkorb, Juliane Wurm, Florian Klein, Eva Heger, Elena Knops, Saleta Sierra-Aragón, Alina Chloé Kretschmer, Rosanne Sprute, Annelene Kossow, Martin Hellmich, Kija Shah-Hosseini, Michael Weiss, Sybelle Goedicke-Fritz, Elisabeth Kaiser, Sascha Meyer, Nastasja Seiwert, Sigrun Smola, Thorsten Pfuhl, Stefan Lohse, Anna-Kathrin Schupp, Jörg Timm, Nehle Gröne, Hellen Lesmann, Renate Bredahl, Lukas Schneble, Martin Turinsky, Christian Patry, Georg F Hoffmann, Barbara Müller, Kathleen Börner, Paul Schnitzler, Anke-Mareil Heuser, Andreas Welker, Ulrich von Both, Anna Kern
Publikováno v:
EClinicalMedicine, Vol 39, Iss , Pp 101082- (2021)
Background: The extent to which children and adolescents contribute to SARS-CoV-2 transmission remains not fully understood. Novel high-capacity testing methods may provide real-time epidemiological data in educational settings helping to establish a
Externí odkaz:
https://doaj.org/article/0637ea85d3d9416fa8369cfffe01ec5c
Autor:
Itay Tokatly Latzer, Melissa DiBacco, Thomas Opladen, Kathrin Jeltsch, Angels Garcia-Cazorla, Deniz Aygun, Alexander Rotenberg, Jean-Baptiste Roullet, Michael Gibson, Phillip Pearl
Publikováno v:
Wednesday, April 26.
Autor:
Itay Tokatly Latzer, Mariarita Bertoldi, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Paul MacMullin, Daniyal Sachee, Alexander Rotenberg, Henry H. C. Lee, Deniz Aygun, Thomas Opladen, Kathrin Jeltsch, Àngels García‐Cazorla, Jean‐Baptiste Roullet, K. Michael Gibson, Phillip L. Pearl
Publikováno v:
Epilepsia.
Autor:
Maximilian Stich, Louise Benning, Claudius Speer, Sven F. Garbade, Marie Bartenschlager, Heeyoung Kim, Kathrin Jeltsch, Julia Tabatabai, Moritz Niesert, Aleš Janda, Hanna Renk, Roland Elling, Georg Friedrich Hoffmann, Hans‐Georg Kräusslich, Barbara Müller, Ralf Bartenschlager, Burkhard Tönshoff
Publikováno v:
Journal of Medical Virology. 95