المؤلفون: Erik Landfeldt, Alberto Alemán, Sophia Abner, Rongrong Zhang, Christian Werner, Ioannis Tomazos, Hanns Lochmüller, Ros M. Quinlivan, Karim Wahbi

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-34 (2024)

مصطلحات موضوعية: Heart, Cardiomyopathy, Neuromuscular disease, Treatment, Guidelines, GRADE, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/c09edffea8ba4e5b8f6030cb32aaaa45

المؤلفون: Laurie, Steven, Steyaert, Wouter, de Boer, Elke, Polavarapu, Kiran, Schuermans, Nika, Sommer, Anna K., Demidov, German, Ellwanger, Kornelia, Paramonov, Ida, Thomas, Coline, Aretz, Stefan, Baets, Jonathan, Benetti, Elisa, Bullich, Gemma, Chinnery, Patrick F., Clayton-Smith, Jill, Cohen, Enzo, Danis, Daniel, de Sainte Agathe, Jean-Madeleine, Denommé-Pichon, Anne-Sophie, Diaz-Manera, Jordi, Efthymiou, Stephanie, Faivre, Laurence, Fernandez-Callejo, Marcos, Freeberg, Mallory, Garcia-Pelaez, José, Guillot-Noel, Lena, Haack, Tobias B., Hanna, Mike, Hengel, Holger, Horvath, Rita, Houlden, Henry, Jackson, Adam, Johansson, Lennart, Johari, Mridul, Kamsteeg, Erik-Jan, Kellner, Melanie, Kleefstra, Tjitske, Lacombe, Didier, Lochmüller, Hanns, López-Martín, Estrella, Macaya, Alfons, Marcé-Grau, Anna, Maver, Aleš, Morsy, Heba, Muntoni, Francesco, Musacchia, Francesco, Nelson, Isabelle, Nigro, Vincenzo, Olimpio, Catarina

المصدر: Nature Medicine ; ISSN 1078-8956 1546-170X

الاتاحة: https://doi.org/10.1038/s41591-024-03420-w
https://www.nature.com/articles/s41591-024-03420-w.pdf
https://www.nature.com/articles/s41591-024-03420-w

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: Patrick F Chinnery, Rita Horvath, Nour Elkhateeb, Katherine Schon, Thiloka E Ratnaike, Angela Lochmüller, Christopher Gilmartin

المصدر: BMJ Neurology Open, Vol 6, Iss 1 (2024)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://neurologyopen.bmj.com/content/6/1/e000650.full; https://doaj.org/toc/2632-6140

URL الوصول: https://doaj.org/article/fb5ec582cd4348f697749b386c6430fa

المؤلفون: 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

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/da340b3b30af42679f99a2df69ba8241

المؤلفون: Katja Neuhoff, Ozge Aksel Kilicarslan, Corinna Preuße, Ann-Kathrin Zaum, Heike Kölbel, Hanns Lochmüller, Ulrike Schara-Schmidt, Kiran Polavarapu, Andreas Roos, Andrea Gangfuß

المصدر: Biomedicines, Vol 12, Iss 12, p 2738 (2024)

مصطلحات موضوعية: Becker muscular dystrophy, BMD, DMD, Duchenne muscular dystrophy, dystrophin, molecular diagnosis, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/12/12/2738; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/06045052caab4c95b3e8a676dc80370e

المؤلفون: Cristina Manis, Mattia Casula, Andreas Roos, Andreas Hentschel, Matthias Vorgerd, Oksana Pogoryelova, Alexa Derksen, Sally Spendiff, Hanns Lochmüller, Pierluigi Caboni

المصدر: Molecules, Vol 29, Iss 21, p 5211 (2024)

مصطلحات موضوعية: GNE myopathy, HIBM, Nonaka myopathy, GNEM biomarkers, carnitines, lysophosphocholines, Organic chemistry, QD241-441

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1420-3049/29/21/5211; https://doaj.org/toc/1420-3049

URL الوصول: https://doaj.org/article/1f103e2be7a74a24ac706e6f4917011d

المؤلفون: Stephen Henry Holland, Ricardo Carmona-Martinez, Kaela O’Connor, Daniel O’Neil, Andreas Roos, Sally Spendiff, Hanns Lochmüller

المصدر: Biomolecules, Vol 14, Iss 10, p 1252 (2024)

مصطلحات موضوعية: glutamine-fructose-6-phosphate transaminase 1 (Gfpt1), congenital myasthenic syndrome (CMS), neuromuscular junction (NMJ), O-GlcNAcylation, acetylcholine receptor delta subunit (AChRδ), glycosylation, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-273X/14/10/1252; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/e5f54fce7e5a4e9f9e07f148b2265675

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: Wismueller, Axel, De, Titas, Lochmueller, Eva, Eckstein, Felix, Nagarajan, Mahesh B.

مصطلحات موضوعية: Electrical Engineering and Systems Science - Image and Video Processing, Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning, Mathematics - Algebraic Topology

URL الوصول: http://arxiv.org/abs/2004.01185

المؤلفون: Baskar, Dipti, Reddy, Nishanth, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Nishadham, Vikas, Vengalil, Seena, Nashi, Saraswati, Sanka, Sai Bhargava, Bardhan, Mainak, Huddar, Akshata, Unnikrishnan, Gopikrishnan, Harikrishna, Ganaraja Valakunja, Gunasekaran, Swetha, Thomas, Priya Treesa, Keerthipriya, Muddasu Suhasini, Girija, Manu Santhappan, Arunachal, Gautham, Anjanappa, Ram Murthy, Nishino, Ichizo, Pogoryelova, Oksana, Lochmüller, H., Nalini, Atchayaram

المصدر: Journal of neuromuscular diseases. - 11, 5 (2024) , 959-968, ISSN: 2214-3602

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/261707

الاتاحة: https://freidok.uni-freiburg.de/data/261707
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2617073
https://doi.org/10.3233/jnd-230130
https://freidok.uni-freiburg.de/dnb/download/261707

المؤلفون: Kastreva, Kristina, Chamova, Teodora, Blagoeva, Stanislava, Bichev, Stoyan, Mihaylova, Violeta, Meyer, Stefanie, Thompson, Rachel, Cherninkova, Sylvia, Guergueltcheva, Velina, Lochmüller, H., Tournev, Ivailo

المصدر: Journal of neuromuscular diseases. - 11, 5 (2024) , 1011-1020, ISSN: 2214-3602

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/261708

الاتاحة: https://freidok.uni-freiburg.de/data/261708
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2617083
https://doi.org/10.3233/jnd-230235
https://freidok.uni-freiburg.de/dnb/download/261708

المؤلفون: Roos, Andreas, Häusler, Martin, Kollipara, Laxmikanth, Töpf, Ana, Preuße, Corinna, Stucka, Rolf, Nolte, Kay Wilhelm, Strom, Tim M., Berutti, Riccardo, Jiang, Xuehui, Koll, Randi, Lochmüller, Hanns, Schacht, Sabine Maria, Zahedi, René P., Weis, Joachim, Senderek, Jan

المصدر: Journal of neuromuscular diseases. - 11, 5 (2024) , 1131-1137, ISSN: 2214-3602

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/261709

الاتاحة: https://freidok.uni-freiburg.de/data/261709
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2617092
https://doi.org/10.3233/jnd-240050
https://freidok.uni-freiburg.de/dnb/download/261709

المؤلفون: Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana, Vissers, Lisenka E. L. M., SOLVE-RD consortium, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Sturm, Marc, Park, Joohyun, Schütz, Leon, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kellner, Melanie, Resch, Baptist, Kolen, Ingrid, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Beijer, Danique, Heutink, Peter, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Boßelmann, Christian, Kegele, Josua, Lauerer-Braun, Robert, Lauxmann, Stephan, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ’t Hoen, Peter A. C., Steyaert, Wouter, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Neveling, Kornelia, van der Sanden, Bart, Sagath, Lydia, Kleefstra, Tjitske, Brookes, Anthony J., Gibson, Spencer, Riaz, Umar, Warren, Greg, Nalagandla, Sai Anuhya, Wang, Yunze Patrick, Sukumaran, Deepthi, Abadijou, Sadegh, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Couturier, Victor, Gut, Ivo Glynne, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Codina, Anna Esteve, Dabad, Marc, Gut, Marta, Raineri, Emanuele, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lucano, Caterina, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Ryba, Lukáš, Lišková, Petra, Doležalová, Pavla, Krebsová, Alice, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Bellampalli, Ravishankara, Moloney, Patrick, Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Perry, Luke, Pini, Veronica, Müller, Juliane, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, de Jonghe, Peter, De Ridder, Willem, Weckhuysen, Sarah, Stamberger, Hannah, Millevert, Charissa, Smal, Noor, Nigro, Vincenzo, Morleo, Manuela, Pinelli, Michele, Banfi, Sandro, Torella, Annalaura, Zeuli, Roberta, Zanobio, Mariateresa, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Ruvolo, David, van Gijn, Marielle, Abbott, Kristin M., Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Köhler, Sebastian, Metcalfe, Alison, Moore, Richard, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Jamra, Rami Abou, Abramowicz, Marc, Kiliçarslan, Özge Aksel, Allen, Nicholas, Javier Alonso García de la Rosa, Francisco, Balestrini, Simona, Balicza, Peter, Bartolomaeus, Tobias, Başak, Ayşe Nazl, Masó, Laura Batlle, Beeson, David, Benoit, Valerie, Benson, Katherine, Sánchez, Eva Bermejo, Bijlsma, Emilia K., Bogaert, Elke, Bourbouli, Mara, Boztug, Kaan, Brohée, Sylvain, Byrne, Susan, Garcia de Oteyza, Andrés Caballero, Capella, Gabriel, Carpancea, Evelina, Cavalleri, Gianpiero, Cazurro-Gutiérrez, Ana, Chinnery, Patrick F., Cilio, Maria-Roberta, Ciolfi, Andrea, Claeys, Kristl, Colobran, Roger, Cordts, Isabell, Cossins, Judith, Dahan, Karin, Dallapiccola, Bruno, Delanty, Norman, Depienne, Christel, Depondt, Chantal, Dermaut, Bart, Deschauer, Marcus, Desir, Julie, Destrée, Anne, Drakos, Minas, Duerinckx, Sarah, Estevez, Berta, Evangeliou, Athanasios, Fallerini, Chiara, Ferilli, Marco, Furini, Simone, Gagneur, Julien, Ghani, Hamidah, Greally, Marie, Grimbacher, Bodo, Guerrini, Renzo, Hackman, Peter, Haimel, Matthias, Bouveret, Eva Hammar, Hemelsoet, Dimitri, Herzog, Rebecca, Hoffer, Mariette J. V., Holinski-Feder, Elke, Horvath, Rita, Huibers, Manon, Iacomino, Michele, Johari, Mridul, Kapaki, Elisabeth, Karadurmus, Deniz, Karakaya, Mert, Kokosali, Evgenia, Korff, Christian, Krass, Leon, Lacombe, Didier, Laner, Andreas, Leavis, Helen, Lederer, Damien, Leitão, Elsa, Lochmüller, Hanns, Martín, Estrella López, Luknárová, Rebeka, Macaya, Alfons, Malaichamy, Sivasankar, Marcé-Grau, Anna, Delgado, Beatriz Martínez, Mary, Sandrine, Masclaux, Frédéric, Mathioudakis, Lambros, Maver, Ales, MAY, Patrick, Maystadt, Isabelle, Mei, Davide, Mertes, Christian, Meunier, Colombine, Molnar, Maria Judit, Monestier, Olivier, Moortgat, Stéphanie, Münchau, Alexander, Munell, Francina, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Reghan, Mary O., Olimpio, Catarina, Parrini, Elena, Pauly, Martje, Pérez-Dueñas, Belén, Peterlin, Borut, Platzer, Konrad, Polavarapu, Kiran, Poppe, Bruce, De la Paz, Manuel Posada, Privitera, Flavia, Radio, Francesca Clementina, Ratnaike, Thiloka, Renieri, Alessandra, Riva, Antonella, Rooryck, Caroline, Roos, Andreas, Ruivenkamp, Claudia A. L., Rump, Andreas, Santen, Gijs W. E., Savarese, Marco, Scala, Marcello, Schon, Katherine, Schröck, Evelin, Scudieri, Paolo, Spilioti, Martha, Steinke-Lange, Verena, Striano, Pasquale, Sznajer, Yves, Tartaglia, Marco, Thompson, Rachel, Trimouille, Aurelien, Udd, Bjarne, Uva, Paolo, Valle, Laura, van der Veken, Lars, van Heurck, Roxane, van Montfrans, Joris, Van Nieuwenhove, Erika, Verdin, Hannah, Webb, David, Wirth, Brunhilde, Yépez, Vicente A., Zaganas, Ioannis, Zara, Federico, Zguro, Kristina, Laurie, Steven

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: npj Genomic Medicine, 9 (1) (2024-10-26)

مصطلحات موضوعية: CNVs, Exome sequencing, Rare diseases, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.nature.com/articles/s41525-024-00436-6.pdf; urn:issn:2056-7944; https://orbilu.uni.lu/handle/10993/62319; info:hdl:10993/62319; https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf

الاتاحة: https://orbilu.uni.lu/handle/10993/62319
https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf
https://doi.org/10.1038/s41525-024-00436-6

المؤلفون: Derksen, Alexa, Thompson, Rachel, Shaikh, Madeeha, Spendiff, Sally, Perkins, Theodore J., Lochmüller, Hanns

المصدر: Human Mutation. - 2024, 1 (2024) , 7377504, ISSN: 1098-1004

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/258331

الاتاحة: https://freidok.uni-freiburg.de/data/258331
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2583310
https://doi.org/10.1155/2024/7377504
https://freidok.uni-freiburg.de/dnb/download/258331

المؤلفون: Vill, Katharina, Tacke, Moritz, König, Anna, Baumann, Matthias, Baumgartner, Manuela, Steinbach, Meike, Bernert, Guenther, Blaschek, Astrid, Deschauer, Marcus, Flotats-Bastardas, Marina, Friese, Johannes, Goldbach, Susanne, Gross, Martin, Günther, René, Hahn, Andreas, Hagenacker, Tim, Hauser, Erwin, Horber, Veronika, Illsinger, Sabine, Johannsen, Jessika, Kamm, Christoph, Koch, Jan C., Koelbel, Heike, Koehler, Cornelia, Kolzter, Kirsten, Lochmüller, Hanns, Ludolph, Albert, Mensch, Alexander, Meyer zu Hoerste, Gerd, Mueller, Monika, Mueller-Felber, Wolfgang, Neuwirth, Christoph, Petri, Susanne, Probst-Schendzielorz, Kristina, Pühringer, Manuel, Steinbach, Robert, Schara-Schmidt, Ulrike, Schimmel, Mareike, Schrank, Bertold, Schwartz, Oliver, Schlachter, Kurt, Schwerin-Nagel, Annette, Schreiber, Gudrun, Smitka, Martin, Topakian, Raffi, Trollmann, Regina, Tuerk, Matthias, Theophil, Manuela, Rauscher, Christian, Vorgerd, Mathias, Walter, Maggie C., Weiler, Markus, Weiss, Claudia, Wilichowski, Ekkehard, Wurster, Claudia D., Wunderlich, Gilbert, Zeller, Daniel, Ziegler, Andreas, Kirschner, Janbernd, Pechmann, Astrid

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

الاتاحة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/115014
https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-1150144
https://doi.org/10.1007/s00415-024-12188-5
https://opus.bibliothek.uni-augsburg.de/opus4/files/115014/s00415-024-12188-5.pdf

المؤلفون: Atalaia, Antonio, Wandrei, Dagmar, Tassoni, Adrian, Kirschner, Janbernd, Lochmüller, H., Evangelista, Teresinha

المصدر: Orphanet journal of rare diseases. - 19, 1 , 66, ISSN: 1750-1172

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/243920

الاتاحة: https://freidok.uni-freiburg.de/data/243920
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2439202
https://doi.org/10.1186/s13023-024-03059-3
https://freidok.uni-freiburg.de/dnb/download/243920

المؤلفون: Landfeldt, Erik, Aleman, A., Abner, Sophie, Zhang, R., Werner, C., Tomazos, Ioannis, Lochmüller, Hanns, Quinlivan, Ros

المصدر: Journal of neuromuscular diseases. - 11, 1 (2024) , 25-57, ISSN: 2214-3602

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/241556

الاتاحة: https://freidok.uni-freiburg.de/data/241556
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2415565
https://doi.org/10.3233/jnd-230094
https://freidok.uni-freiburg.de/dnb/download/241556

المؤلفون: Chelban, Viorica, Aksnes, Henriette, Lochmüller, H., Arnesen, Thomas, Houden, Henry, SYNaPS, Study Group

المصدر: Nature communications. - 15, 1 (2024) , 2269, ISSN: 2041-1723

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/253411

الاتاحة: https://freidok.uni-freiburg.de/data/253411
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2534110
https://doi.org/10.1038/s41467-024-46354-0
https://freidok.uni-freiburg.de/dnb/download/253411

المؤلفون: Ferreira, Tomas, Polavarapu, Kiran, Olimpio, Catarina, Paramonov, Ida, Lochmüller, Hanns, Horvath, Rita

المصدر: Journal of neurology. - 271, 6 (2024) , 3546-3553, ISSN: 1432-1459

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/253308

الاتاحة: https://freidok.uni-freiburg.de/data/253308
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2533085
https://doi.org/10.1007/s00415-024-12319-y
https://freidok.uni-freiburg.de/dnb/download/253308