Zobrazeno 1 - 10
of 1 259
pro vyhledávání: '"Hanns Lochmüller"'
Autor:
Erik Landfeldt, Alberto Alemán, Sophia Abner, Rongrong Zhang, Christian Werner, Ioannis Tomazos, Hanns Lochmüller, Ros M. Quinlivan, Karim Wahbi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-34 (2024)
Abstract Background Duchenne muscular dystrophy (DMD) is a rare disease that causes progressive muscle degeneration resulting in life-threatening cardiac complications. The objective of this systematic literature review was to describe and grade the
Externí odkaz:
https://doaj.org/article/c09edffea8ba4e5b8f6030cb32aaaa45
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:
Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A. C. ’t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative genes have been described for Congenital Myasthenic Syndromes (CMS), a group of divers
Externí odkaz:
https://doaj.org/article/da340b3b30af42679f99a2df69ba8241
Autor:
Cristina Manis, Mattia Casula, Andreas Roos, Andreas Hentschel, Matthias Vorgerd, Oksana Pogoryelova, Alexa Derksen, Sally Spendiff, Hanns Lochmüller, Pierluigi Caboni
Publikováno v:
Molecules, Vol 29, Iss 21, p 5211 (2024)
GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults. GNE myopathy (GNEM) is caused by bi-allelic variants in the UDP-N-acetylglucosamine
Externí odkaz:
https://doaj.org/article/1f103e2be7a74a24ac706e6f4917011d
Autor:
Stephen Henry Holland, Ricardo Carmona-Martinez, Kaela O’Connor, Daniel O’Neil, Andreas Roos, Sally Spendiff, Hanns Lochmüller
Publikováno v:
Biomolecules, Vol 14, Iss 10, p 1252 (2024)
The neuromuscular junction (NMJ) is the site where the motor neuron innervates skeletal muscle, enabling muscular contraction. Congenital myasthenic syndromes (CMS) arise when mutations in any of the approximately 35 known causative genes cause impai
Externí odkaz:
https://doaj.org/article/e5f54fce7e5a4e9f9e07f148b2265675
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:
Christopher T. Esapa, R. A. Jeffrey McIlhinney, Adrian J. Waite, Matthew A. Benson, Jasmin Mirzayan, Henriett Piko, Ágnes Herczegfalvi, Rita Horvath, Veronika Karcagi, Maggie C. Walter, Hanns Lochmüller, Pierre J. Rizkallah, Qi L. Lu, Derek J. Blake
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Fukutin-related protein (FKRP, MIM ID 606596) variants cause a range of muscular dystrophies associated with hypo-glycosylation of the matrix receptor, α-dystroglycan. These disorders are almost exclusively caused by homozygous or compound heterozyg
Externí odkaz:
https://doaj.org/article/35da4e2141714c0fa0e8671065cea821
Autor:
Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neu
Externí odkaz:
https://doaj.org/article/cd5cc9ecdd2c4821a6750da1e26f46ce
Autor:
Andrea C. Kakouri, Demetris Koutalianos, Andrie Koutsoulidou, Anastasis Oulas, Marios Tomazou, Nikoletta Nikolenko, Chris Turner, Andreas Roos, Anna Lusakowska, Katarzyna Janiszewska, George K. Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, Eleni Zamba Papanicolaou, Grainne Gorman, Hanns Lochmüller, George M. Spyrou, Leonidas A. Phylactou
Publikováno v:
RNA Biology, Vol 19, Iss 1, Pp 507-518 (2022)
Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are so
Externí odkaz:
https://doaj.org/article/fce9b866c9544801aef48904f2cb8776
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the treatment of SMA patients
Externí odkaz:
https://doaj.org/article/3964177cf3a34839a500c56ee8c3ca92