المؤلفون: Regina Trollmann, Jessika Johannsen, Katharina Vill, Cornelia Köhler, Andreas Hahn, Sabine Illsinger, Astrid Pechmann, Maja von der Hagen, Wolfgang Müller-Felber

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: 5q-SMA, Preterm infants, Spinal muscular atrophy, Newborn screening, SMA treatment, Onasemnogene Abeparvovec, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/b981e61f264148b7a57d683c45dc6ae3

المؤلفون: 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

المصدر: The Lancet Regional Health. Europe, Vol 47, Iss , Pp 101092- (2024)

مصطلحات موضوعية: Spinal muscular atrophy, Gene addition therapy, SMA, Onasemnogene abeparvovec, Gene therapy, Zolgensma, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S266677622400259X; https://doaj.org/toc/2666-7762

URL الوصول: https://doaj.org/article/d70df10bcbf64e44ab80eb2ebad4ea6f

المؤلفون: 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

المصدر: The Lancet Regional Health. Europe, Vol 39, Iss , Pp 100862- (2024)

مصطلحات موضوعية: Antisense oligonucleotide, Intrathecal therapy, Motor neuron disease, Nusinersen, Spinal muscular atrophy, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666776224000280; https://doaj.org/toc/2666-7762

URL الوصول: https://doaj.org/article/290d74c1de7d42b58be5fe3b14b68827

المؤلفون: Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Maggie C. Walter, Astrid Bertsche, Katharina Vill, Matthias Baumann, Manuela Baumgartner, Isabell Cordts, Astrid Eisenkölbl, Marina Flotats-Bastardas, Johannes Friese, René Günther, Andreas Hahn, Veronka Horber, Ralf A. Husain, Sabine Illsinger, Jörg Jahnel, Jessika Johannsen, Cornelia Köhler, Heike Kölbel, Monika Müller, Arpad von Moers, Annette Schwerin-Nagel, Christof Reihle, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Regina Trollmann, Markus Weiler, Claudia Weiß, Gert Wiegand, Ekkehard Wilichowski, Andreas Ziegler, Hanns Lochmüller, Janbernd Kirschner, SMArtCARE study group

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Spinal muscular atrophy, Nusinersen, Sitter, Later-onset, SMArtCARE, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/3964177cf3a34839a500c56ee8c3ca92

المؤلفون: Patrick Julian Klann, Xiaoyan Wang, Anna Elfert, Wenli Zhang, Cornelia Köhler, Anne-Katrin Güttsches, Frank Jacobsen, Ute Weyen, Andreas Roos, Eric Ehrke-Schulz, Anja Ehrhardt, Matthias Vorgerd, Wibke Bayer

المصدر: Viruses, Vol 15, Iss 1, p 79 (2022)

مصطلحات موضوعية: human adenovirus, HAdV, viral vector, gene therapy, neuromuscular disease, seroprevalence, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1999-4915/15/1/79; https://doaj.org/toc/1999-4915

URL الوصول: https://doaj.org/article/70af1f19e10f48d9b271a683077bc16f

المؤلفون: Sören Janßen, Leoni S. Erbe, Moritz Kneifel, Matthias Vorgerd, Kristina Döring, Krzysztof P. Lubieniecki, Joanna M. Lubieniecka, Wanda M. Gerding, Nicolas Casadei, Anne-Katrin Güttsches, Christoph Heyer, Thomas Lücke, Hoa Huu Phuc Nguyen, Cornelia Köhler, Sabine Hoffjan

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 19, p 10867 (2024)

مصطلحات موضوعية: ryanodine receptor 1 (RYR1), whole genome sequencing (WGS), congenital myopathy, splice variant, RYR1 -related myopathies, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/19/10867; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/33e46c38d76d4c789dd7917df24a1779

الاتاحة: https://doi.org/10.3390/ijms251910867
https://doaj.org/article/33e46c38d76d4c789dd7917df24a1779

المؤلفون: Leoni S. Erbe, Sabine Hoffjan, Sören Janßen, Moritz Kneifel, Karsten Krause, Wanda M. Gerding, Kristina Döring, Anne-Katrin Güttsches, Andreas Roos, Elena Buena Atienza, Caspar Gross, Thomas Lücke, Hoa Huu Phuc Nguyen, Matthias Vorgerd, Cornelia Köhler

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 14716, p 14716 (2023)

مصطلحات موضوعية: Duchenne muscular dystrophy, DMD, optical genome mapping, OGM, long-read sequencing, inversion, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/19/14716; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/3ec8e1bd14f54769a046f4c0a9412e16

الاتاحة: https://doi.org/10.3390/ijms241914716
https://doaj.org/article/3ec8e1bd14f54769a046f4c0a9412e16

المؤلفون: Natalie Pluta, Sabine Hoffjan, Frederic Zimmer, Cornelia Köhler, Thomas Lücke, Jennifer Mohr, Matthias Vorgerd, Hoa Huu Phuc Nguyen, David Atlan, Beat Wolf, Ann-Kathrin Zaum, Simone Rost

المصدر: Genes; Volume 13; Issue 10; Pages: 1752

مصطلحات موضوعية: inversion, sarcoglycanopathy, SGCG, whole genome sequencing (WGS), next generation sequencing (NGS), LGMDR5, muscle disease, genetic diagnostics

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13101752

الاتاحة: https://doi.org/10.3390/genes13101752

المؤلفون: Wolfgang Müller-Felber, Astrid Blaschek, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Inken Brockow, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Jürgen Durner, Katja Eggermann, Heike Kölbel, Christine Müller, Iris Hannibal, Bernd Olgemöller, Ulrike Schara, Arpad von Moers, Regina Trollmann, Jessika Johannssen, Andreas Ziegler, Sebahattin Cirak, Andreas Hahn, Maja von der Hagen, Claudia Weiss, Gudrun Schreiber, Marina Flotats-Bastardas, Hans Hartmann, Sabine Illsinger, Astrid Pechmann, Veronka Horber, Jan Kirschner, Cornelia Köhler, Benedikt Winter, Johannes Friese, Katharina Vill

مصطلحات موضوعية: Neurology, Medizin, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2076f3c7700af5e297061ae3cdeaea57
https://www.ncbi.nlm.nih.gov/pubmed/36463459

المؤلفون: Astrid Blaschek, Heike Kölbel, Oliver Schwartz, Cornelia Köhler, Dieter Gläser, Katja Eggermann, Iris Hannibal, Ulrike Schara-Schmidt, Wolfgang Müller-Felber, Katharina Vill

مصطلحات موضوعية: Muscular Atrophy, Spinal, Survival of Motor Neuron 2 Protein, Neonatal Screening, Neurology, Infant, Newborn, Medizin, Humans, Infant, Neurology (clinical), Genetic Testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21990b3243e2eb4fc33f28851a26b1e2
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85138127831

المؤلفون: Andreas, Ziegler, Ekkehard, Wilichowski, Ulrike, Schara, Andreas, Hahn, Wolfgang, Müller-Felber, Jessika, Johannsen, Maja, von der Hagen, Arpad, von Moers, Corinna, Stoltenburg, Afshin, Saffari, Maggie C, Walter, Ralf A, Husain, Astrid, Pechmann, Cornelia, Köhler, Veronka, Horber, Oliver, Schwartz, Janbernd, Kirschner

المصدر: Der Nervenarzt. 91(6)

مصطلحات موضوعية: Europe, Muscular Atrophy, Spinal, Consensus, Muscular Diseases, Neurology, Germany, Humans, Neurodegenerative Diseases, Genetic Therapy, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::356125322b878c4d45552efa1d09c203
https://pubmed.ncbi.nlm.nih.gov/32394004

المؤلفون: Christine Decker, Katharina Kranz, T. Lücke, Cornelia Köhler, Kristine Adam, Charlotte Thiels

المصدر: Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.

مصطلحات موضوعية: Transplantation, business.industry, Medicine, Stem cell, business, University hospital, Bioinformatics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3f3a7efee164eb2f5d29052341ec8dca
https://doi.org/10.1055/s-0038-1676012