S-Glutathionylation and S-Nitrosylation in Mitochondria: Focus on Homeostasis and Neurodegenerative Diseases von Vrettou, Sofia, Wirth, Brunhilde

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Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next von Wirth, Brunhilde, Karakaya, Mert, Kye, Min Jeong, Mendoza-Ferreira, Natalia

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Spinal Muscular Atrophy: In the Challenge Lies a Solution von Wirth, Brunhilde

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Mitochondrial Dysfunction in Spinal Muscular Atrophy von Zilio, Eleonora, Piano, Valentina, Wirth, Brunhilde

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Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care von Mercuri, Eugenio, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico, Davis, Rebecca Hurst, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon, Qian, Ying, Sejersen, Thomas, Muntoni, Francesco, Wirth, Brunhilde, Tiziano, Francesco Danilo, Kirschner, Janbernd, Tizzano, Eduardo, Topaloglu, Haluk, Swoboda, Kathy, Laing, Nigel, Kayoko, Saito, Prior, Thomas, Chung, Wendy K., Wu, Shou-Mei, Montes, Jacqueline, Mazzone, Elena, Main, Marion, Coleman, Caron, Gee, Richard, Glanzman, Allan, Kroksmark, Anna-Karin, Krosschell, Kristin, Nelson, Leslie, Rose, Kristy, Stępień, Agnieszka, Vuillerot, Carole, Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Dubousset, Jean, Farrington, David, Flynn, Jack, Halanski, Matthew, Hasler, Carol, Miladi, Lotfi, Reilly, Christopher, Roye, Benjamin, Sponseller, Paul, Yazici, Muharrem, Hurst, Rebecca, Bertini, Enrico, Tarrant, Stacey, Barja, Salesa, Bertoli, Simona, Crawford, Thomas, Foust, Kevin, Kyle, Barbara, Rodan, Lance, Roper, Helen, Seffrood, Erin, Swoboda, Kathryn, Szlagatys-Sidorkiewicz, Agnieszka

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An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) von Wirth, Brunhilde

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How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches von Wirth, Brunhilde, Garbes, Lutz, Riessland, Markus

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Plastin 3 in health and disease: a matter of balance von Wolff, Lisa, Strathmann, Eike A., Müller, Ilka, Mählich, Daniela, Veltman, Charlotte, Niehoff, Anja, Wirth, Brunhilde

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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years von Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Glaeser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Roeschinger, Wulf, Becker, Marc, Czibere, Ludwig, Durner, Jurgen, Eggermann, Katja, Olgemoeller, Bernhard, Harms, Erik, Schara, Ulrike, Koelbel, Heike, Mueller-Felber, Wolfgang

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Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons von Thelen, Maximilian Paul, Wirth, Brunhilde, Kye, Min Jeong

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Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy von Karakaya, Mert, Paketci, Cem, Altmueller, Janine, Thiele, Holger, Hoelker, Irmgard, Yis, Uluc, Wirth, Brunhilde

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High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR von Czibere, Ludwig, Burggraf, Siegfried, Fleige, Tobias, Glueck, Birgit, Keitel, Lisa Marie, Landt, Olfert, Durner, Juergen, Roeschinger, Wulf, Hohenfellner, Katharina, Wirth, Brunhilde, Mueller-Felber, Wolfgang, Vill, Katharina, Becker, Marc

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Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta von Becker, Jutta, Semler, Oliver, Gilissen, Christian, Li, Yun, Bolz, Hanno Jörn, Giunta, Cecilia, Bergmann, Carsten, Rohrbach, Marianne, Koerber, Friederike, Zimmermann, Katharina, de Vries, Petra, Wirth, Brunhilde, Schoenau, Eckhard, Wollnik, Bernd, Veltman, Joris A., Hoischen, Alexander, Netzer, Christian

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Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy von Oprea, Gabriela E, Kröber, Sandra, McWhorter, Michelle L, Rossoll, Wilfried, Müller, Stefan, Krawczak, Michael, Bassell, Gary J, Beattie, Christine E, Wirth, Brunhilde

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PLS3 Mutations in X-Linked Osteoporosis with Fractures von van Dijk, Fleur S, Zillikens, M. Carola, Micha, Dimitra, Riessland, Markus, Marcelis, Carlo L.M, de Die-Smulders, Christine E, Milbradt, Janine, Franken, Anton A, Harsevoort, Arjan J, Lichtenbelt, Klaske D, Pruijs, Hans E, Rubio-Gozalbo, M. Estela, Zwertbroek, Rolf, Moutaouakil, Youssef, Egthuijsen, Jaqueline, Hammerschmidt, Matthias, Bijman, Renate, Semeins, Cor M, Bakker, Astrid D, Everts, Vincent, Klein-Nulend, Jenneke, Campos-Obando, Natalia, Hofman, Albert, te Meerman, Gerard J, Verkerk, Annemieke J.M.H, Uitterlinden, André G, Maugeri, Alessandra, Sistermans, Erik A, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Wirth, Brunhilde, Simon, Marleen E.H, Pals, Gerard

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SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy von Riessland, Markus, Ackermann, Bastian, Förster, Anja, Jakubik, Miriam, Hauke, Jan, Garbes, Lutz, Fritzsche, Ina, Mende, Ylva, Blumcke, Ingmar, Hahnen, Eric, Wirth, Brunhilde

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Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome von Salpietro, Vincenzo, Lin, Weichun, Delle Vedove, Andrea, Storbeck, Markus, Liu, Yun, Efthymiou, Stephanie, Manole, Andreea, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, McElreavey, Kenneth, Krishnakumar, Shyam S., Pitt, Matthew, Bello, Oscar D., Rothman, James E., Basel‐Vanagaite, Lina, Hubshman, Monika Weisz, Aharoni, Sharon, Manzur, Adnan Y., Wirth, Brunhilde, Houlden, Henry

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Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality von Ackermann, Bastian, Kröber, Sandra, Torres-Benito, Laura, Borgmann, Anke, Peters, Miriam, Hosseini Barkooie, Seyyed Mohsen, Tejero, Rocio, Jakubik, Miriam, Schreml, Julia, Milbradt, Janine, Wunderlich, Thomas F, Riessland, Markus, Tabares, Lucia, Wirth, Brunhilde

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Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach von Kruse, Teresa, Leflerovà, Diana, Cap, Annette, Portegys, Sara, Wirth, Brunhilde, Heller, Raoul, Brakemeier, Svenja, Hagenacker, Tim, Braumann, Bert, Wunderlich, Gilbert

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Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy von Neveling, Kornelia, Martinez-Carrera, Lilian A., Hölker, Irmgard, Heister, Angelien, Verrips, Aad, Hosseini-Barkooie, Seyyed Mohsen, Gilissen, Christian, Vermeer, Sascha, Pennings, Maartje, Meijer, Rowdy, te Riele, Margot, Frijns, Catharina J.M., Suchowersky, Oksana, MacLaren, Linda, Rudnik-Schöneborn, Sabine, Sinke, Richard J., Zerres, Klaus, Lowry, R. Brian, Lemmink, Henny H., Garbes, Lutz, Veltman, Joris A., Schelhaas, Helenius J., Scheffer, Hans, Wirth, Brunhilde

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