Zobrazeno 1 - 10
of 648
pro vyhledávání: '"Schara P"'
Autor:
Laurent Servais, Paul Strijbos, Margaux Poleur, Andrada Mirea, Nina Butoianu, Valeria A. Sansone, Carole Vuillerot, Ulrike Schara-Schmidt, Mariacristina Scoto, Andreea M. Seferian, Stefano C. Previtali, Már Tulinius, Andrés Nascimento, Pat Furlong, Teji Singh, Roxana Donisa Dreghici, Nathalie Goemans, Eugenio Mercuri, Volker Straub, Maitea Guridi Ormazabal, Jessica Braid, Francesco Muntoni, Alexis Tricot, Mélanie Annoussamy, Damien Eggenspieler
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Stride velocity 95th centile (SV95C) is a wearable-derived endpoint representing the 5% fastest strides taken during everyday living. In July 2023, SV95C received European Medicines Agency (EMA) qualification for use as a primary endpoint in
Externí odkaz:
https://doaj.org/article/2f2f5f8732804df2aa06b3b35f7bb95e
Autor:
Claudia Weiß, Lena-Luise Becker, Johannes Friese, Astrid Blaschek, Andreas Hahn, Sabine Illsinger, Oliver Schwartz, Günther Bernert, Maja von der Hagen, Ralf A. Husain, Klaus Goldhahn, Janbernd Kirschner, Astrid Pechmann, Marina Flotats-Bastardas, Gudrun Schreiber, Ulrike Schara, Barbara Plecko, Regina Trollmann, Veronka Horber, Ekkehard Wilichowski, Matthias Baumann, Andrea Klein, Astrid Eisenkölbl, Cornelia Köhler, Georg M. Stettner, Sebahattin Cirak, Oswald Hasselmann, Angela M. Kaindl, Sven F. Garbade, Jessika Johannsen, Andreas Ziegler, Petra Baum, Manuela Baumgartner, Astrid Bertsche, Markus Blankenburg, Jonas Denecke, Marcus Deschauer, Matthias Eckenweiler, Tobias Geis, Martin Groß, René Günther, Tim Hagenacker, Eckard Hamelmann, Christoph Kamm, Birgit Kauffmann, Jan Christoph Koch, Wolfgang Löscher, Albert Ludolph, Pascal Martin, Alexander Mensch, Gerd Meyer zu Hörste, Christoph Neuwirth, Susanne Petri, Manuel Pühringer, Imke Rathmann, Dorothee Schäfer, Mareike Schimmel, Bertold Schrank, Olivia Schreiber-Katz, Anette Schwerin-Nagel, Martin Smitka, Meike Steinbach, Elisabeth Steiner, Johannes Stoffels, Manuela Theophil, Raffi Topakian, Matthias Türk, Matthias Vorgerd, Maggie C. Walter, Markus Weiler, Gert Wiegand, Gilbert Wunderlich, Claudia Diana Wurster, Daniel Zeller, Moritz Metelmann, Fiona Zeiner, Veronika Pilshofer, Mika Rappold, Josefine Pauschek, Christof Reihle, Annette Karolin Homma, Paul Lingor, Bettina Henzi, Tabea Reinhardt, Dorothea Holzwarth, Wolfgang Wittmann, Stefan Kappel, Maren Freigang, Benjamin Stolte, Kyriakos Martakis, Georg Classen, Doris Roland-Schäfer, Daniela Steuernagel, Hans Hartmann, Sophie Fischer, Marieke Wermuth, Mohamad Tareq Muhandes, Anna Hotter, Zeljko Uzelac, Steffen Naegel, Sarah Wiethoff, Nathalie Braun, Bogdan Bjelica, Heike Kölbel, Daniela Angelova-Toshkina, Bernd Wilken, Alma Osmanovic, Barbara Fiedler, Maike Tomforde, Thomas Voelkl, Arpad von Moers, Petra Müller, Bettina Behring, Anne Güttsches, Peter Reilich, Wolfgang Wick, Corinna Stoltenburg, Simon Witzel, Julia Bellut, Georg Friedrich Hoffmann, Kathrin Mörtlbauer, Alexandra Ille, Michael Schroth, Joenna Driemeyer, Luisa Semmler, Cornelia Müller, Katharina Dörnbrack, Michael Zemlin, Stephanie Geitmann, Hanna Sophie Lapp, Svenja Brakemeier, Tascha Gehrke, Klearchos Ntemiris, Nadja Kaiser, Sabine Borowski, Barbara Ramadan, Ulf Hustedt, Tobias Baum, Ilka Schneider, Esra Akova-Oztürk, Katharina Vill, Zylfie Dibrani, Camilla Wohnrade, Adela Della-Marina, Lisa Jung, Timo Deba, Joachim Zobel, Jens Schallner, Christina Kraut, Peter Vollmann, Stephanie Schüssler, Melanie Roeder, Miriam Hiebeler, Nicole Berberich, Joanna Schneider, Brigitte Brauner, Stefan Kölker, Elke Pernegger, Magdalena Gosk-Tomek, Sarah Braun, Deike Weiss, Gerrit Machetanz, Thorsten Langer, Christina Saier, Sandra Baumann, Sabine Hettrich, Gabriel Dworschak, Katharina Müller-Kaempffer, Isabelle Dittes, Andreas Thimm, Lisa Quinten, Kristina Albers, Andrea Bevot, Christa Bretschneider, Johannes Dorst, Thomas Kendzierski, Iris Hannibal, Jasmin Bischofberger, Tilman Riesmeier, Andrea Gangfuß, Eva Johann to Settel, Michael Grässl, Susan Fiebig, Carmen Hollerauer, Lea Seeber, Ina Krahwinkler, Irene Lange, Federica Montagnese, Marcel Mann-Richter, Alexandra Wagner, Christine Leypold, Afshin Saffari, Elmecker Anna, Anna Wiesenhofer, Eva-Maria Wendel, Paula-Sophie Steffens, Sabine Wider, Adrian Tassoni, Andrea Dall, Franziska Busch, Daniela Zeisler, Maria Wessel, Jaqueline Lipka, Andrea Hackemer, Loreen Plugge, Eva Jansen, Erdmute Roth, Joachim Schuster, Anna Koelsch, Birgit Warken-Madelung, Michaela Schwippert, Britta Holtkamp, Katja Köbbing, Sander Claeys, Sandy Foerster, Simone Thiele, Heidi Rochau-Trumpp, Annette George, Moritz Niesert, Tanja Neimair, Katia Vettori, Julia Haverkamp, Jila Taherpour, Juliane Hug, Franziska Wenzel, Christina Bant, Ute Baur, Kathrin Bühner, Melina Schlag, Lena Ruß, Hanna Küpper, Anja Müller, Kurt Wollinsky, Therese Well, Antonia Leinert, Barbara Andres, Heymut Omran, Nicole Claus, Anna Hagenmeyer, Marion Schnurr, Vladimir Dukic, Albert Christian Ludolph, Sabine Specht, Verena Angermair, Anna Hüpper, Daniela Banholzer, Sabine Stein, Tim Kampowski, Marion Richmann, Sylke Nicolai, Omar Atta, Birgit Meßmer, Heike de Vries, Elisabeth Rotenfusser, Alma Oscmanovic, Isabelle Renger, Hélène Guillemot, Ilka Lehnert, Mike Grünwedel, Laura Grimm, Guido Stocker, Annegret Hoevel, Theresa Stadler, Michal Fischer, Sibylle Vogt, Axel Gebert, Susanne Goldbach, Hanns Lochmüller, Wolfgang Müller-Felber, Ulrike Schara-Schmidt, Kristina Probst-Schendzielorz, Annina Lang, Maren Nitzsche, Julie Hammer, Katharina Müller-Kaempfer, Corinna Wirner-Piotrowski, Lieske van der Stam, Anke Bongartz, Cornelia Enzmann, Joël Fluss, Elea Galiart, David Jacquier, Dominique Baumann Metzler, Anne Tscherter
Publikováno v:
The Lancet Regional Health. Europe, Vol 47, Iss , Pp 101092- (2024)
Summary: Background: Real-world data on gene addition therapy (GAT) with onasemnogene abeparvovec (OA), including all age groups and with or without symptoms of the disease before treatment are needed to provide families with evidence-based advice an
Externí odkaz:
https://doaj.org/article/d70df10bcbf64e44ab80eb2ebad4ea6f
Autor:
Celine Chiu, Alma Küchler, Christel Depienne, Corinna Preuße, Adela Della Marina, Andre Reis, Frank J. Kaiser, Kay Nolte, Andreas Hentschel, Ulrike Schara-Schmidt, Heike Kölbel, Andreas Roos
Publikováno v:
Skeletal Muscle, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Background TCF4 acts as a transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5 motif. Dominant variants in TCF4 are associated with the manifestation of Pitt-Hopkins syndrome, a rare disease characterized by severe mental
Externí odkaz:
https://doaj.org/article/2e484f64d83a4c958c3c49c8b122eed4
Autor:
Nada Rotovnik Kozjek, Gašper Tonin, Luka Puzigaća, Gregor Veninšek, Sergej Pirkmajer, Tajda Košir Božič, Denis Mlakar Mastnak, Jurij Aleš Košir, Laura Petrica, Karla Berlec, Katja Kogovšek, Tomaž Marš, Taja Jordan, Mitja Lainščak, Jerneja Farkaš Lainščak, Rok Poličnik, Eva Peklaj, Neža Majdič, Erik Brecelj, Alenka Marič Cevzar, Andrej Škoberne, Barbara Korošec, Rada Franko, Brigita Brumen Avramović, Renata Hribar, Ana Jelovčan, Mojca Stubelj, Nataša Bratina, Karin Sernec, Katja Povhe Jemec, Branka Stražišar, Sergeja Kozar, Mojca Jensterle, Irena Šarc, Jaka Strel, Klemen Schara, Mojca Gabrijelčič, Milena Kerin Povšič, Neža Lipovec, Evgen Benedik, Jasna Klen, Milena Blaž Kovač
Publikováno v:
Zdravniški Vestnik, Vol 93, Iss 1-2, Pp 20-35 (2024)
Izhodišča: Na podlagi prehranske obravnave in postavljene diagnoze motnja prehranjenosti ali s prehranjenostjo povezane motnje lahko oblikujemo posamezniku prilagojeni načrt prehranskih ukrepov. Ta je nujen, da vzdržujemo ali izboljšamo posamezn
Externí odkaz:
https://doaj.org/article/b5a8b737fcb541c5ae7ab2c1c4a0852c
Autor:
René Günther, Claudia Diana Wurster, Svenja Brakemeier, Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri, Zeljko Uzelac, Miriam Hiebeler, Simone Thiele, Maggie C. Walter, Markus Weiler, Tobias Kessler, Maren Freigang, Hanna Sophie Lapp, Isabell Cordts, Paul Lingor, Marcus Deschauer, Andreas Hahn, Kyriakos Martakis, Robert Steinbach, Benjamin Ilse, Annekathrin Rödiger, Julia Bellut, Julia Nentwich, Daniel Zeller, Mohamad Tareq Muhandes, Tobias Baum, Jan Christoph Koch, Bertold Schrank, Sophie Fischer, Andreas Hermann, Christoph Kamm, Steffen Naegel, Alexander Mensch, Markus Weber, Christoph Neuwirth, Helmar C. Lehmann, Gilbert Wunderlich, Christian Stadler, Maike Tomforde, Annette George, Martin Groß, Astrid Pechmann, Janbernd Kirschner, Matthias Türk, Mareike Schimmel, Günther Bernert, Pascal Martin, Christian Rauscher, Gerd Meyer zu Hörste, Petra Baum, Wolfgang Löscher, Marina Flotats-Bastardas, Cornelia Köhler, Kristina Probst-Schendzielorz, Susanne Goldbach, Ulrike Schara-Schmidt, Wolfgang Müller-Felber, Hanns Lochmüller, Otgonzul von Velsen, Christoph Kleinschnitz, Albert C. Ludolph, Tim Hagenacker
Publikováno v:
The Lancet Regional Health. Europe, Vol 39, Iss , Pp 100862- (2024)
Summary: Background: Evidence for the efficacy of nusinersen in adults with 5q-associated spinal muscular atrophy (SMA) has been demonstrated up to a period of 16 months in relatively large cohorts but whereas patients reach a plateau over time is st
Externí odkaz:
https://doaj.org/article/290d74c1de7d42b58be5fe3b14b68827
Autor:
Nada Rotovnik Kozjek, Gašper Tonin, Luka Puzigaća, Gregor Veninšek, Sergej Pirkmajer, Tajda Košir Božič, Denis Mlakar Mastnak, Jurij Aleš Košir, Laura Petrica, Karla Berlec, Katja Kogovšek, Tomaž Marš, Taja Jordan, Mitja Lainščak, Jerneja Farkaš Lainščak, Rok Poličnik, Eva Peklaj, Neža Majdič, Erik Brecelj, Alenka Marič Cevzar, Andrej Škoberne, Barbara Korošec, Rada Franko, Brigita Brumen Avramović, Renata Hribar, Ana Jelovčan, Mojca Stubelj, Nataša Bratina, Karin Sernec, Katja Povhe Jemec, Branka Stražišar, Sergeja Kozar, Mojca Jensterle, Irena Šarc, Jaka Strel, Klemen Schara, Mojca Gabrijelčič, Milena Kerin Povšič, Neža Lipovec, Evgen Benedik, Jasna Klen, Milena Blaž Kovač
Publikováno v:
Zdravniški Vestnik, Vol 92, Iss 11-12, Pp 442-455 (2023)
Izhodišča: Pomembno vlogo pri prehranski obravnavi imata tako presejanje prehranske ogroženosti kot prehranski pregled, na podlagi katerega lahko postavimo diagnozo motnje prehranjenosti ali s prehranjenostjo povezane motnje. Ocena posameznikovega
Externí odkaz:
https://doaj.org/article/26a0ed5cf83e4eb7b400eaabf9a30dfb
Autor:
Nada Rotovnik Kozjek, Gašper Tonin, Luka Puzigaća, Gregor Veninšek, Sergej Pirkmajer, Tajda Košir Božič, Denis Mlakar Mastnak, Jurij Aleš Košir, Laura Petrica, Karla Berlec, Katja Kogovšek, Tomaž Marš, Taja Jordan, Mitja Lainščak, Jerneja Farkaš Lainščak, Rok Poličnik, Eva Peklaj, Neža Majdič, Erik Brecelj, Alenka Marič Cevzar, Andrej Škoberne, Barbara Korošec, Rada Franko, Brigita Brumen Avramović, Renata Hribar, Ana Jelovčan, Mojca Stubelj, Nataša Bratina, Karin Sernec, Katja Povhe Jemec, Branka Stražišar, Sergeja Kozar, Mojca Jensterle, Irena Šarc, Jaka Strel, Klemen Schara, Mojca Gabrijelčič, Milena Kerin Povšič, Neža Lipovec, Evgen Benedik, Jasna Klen, Milena Blaž Kovač
Publikováno v:
Zdravniški Vestnik, Vol 92, Iss 9-10, Pp 356-370 (2023)
Izhodišča: Prehransko stanje posameznika uvrščamo med ključne dejavnike njegovega zdravja. Za učinkovito individualno in multidisciplinarno obravnavo stanj, povezanih s prehranskim stanjem posameznika, moramo dobro poznati terminologijo klinič
Externí odkaz:
https://doaj.org/article/90db890a053c4a879922c2727e499947
Autor:
Tim Hagenacker, Ulrike Schara-Schmidt
Publikováno v:
The Lancet Regional Health. Europe, Vol 37, Iss , Pp 100822- (2024)
Externí odkaz:
https://doaj.org/article/5834a9147afb4a8fb9bfb1d595817641
Autor:
Victor M. Corman, Corinna Preusse, Julia Melchert, Olivier Benveniste, Randi Koll, Hans-Hilmar Goebel, Terry C. Jones, Christian Drosten, Ulrike Schara-Schmidt, Sarah Leonard-Louis, Werner Stenzel, Josefine Radke
Publikováno v:
Free Neuropathology, Vol 5 (2024)
Objective: To explore a possible connection between active viral infections and manifestation of Dermatomyositis (DM). Methods: Skeletal muscle biopsies were analyzed from patients diagnosed with juvenile (n=10) and adult (n=12) DM. Adult DM patien
Externí odkaz:
https://doaj.org/article/cba96a55687a4622b4a6a60b996ae40b
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