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Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA) Merlet, Angele N.; Lacene, Emmanuelle; Nelson, Isabelle; Brochier, Guy; Labasse, Clemence; Chanut, Anais; Madelaine, Angeline; Beuvin, Maud; Bonne, Gisele; Feasson, Leonard; Minot, Marie-Christine; Noury, Jean-Baptiste; Fradin, Melanie; Savarese, Marco; Fernandez-Eulate, Gorka; Behin, Anthony; Stojkovic, Tanya; Hentschel, Andreas; Marcorelles, Pascale; Roos, Andreas; Evangelista, Teresinha Share Save
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Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle Malaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Sikic, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schaenzer, Anne; Kuesters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadza, Danijela Petkovic; Jakovcevic, Antonia; Zigman, Tamara; Cavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Baric, Ivo; Lochmueller, Hanns Share Save
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Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5 Oeztuerk, Menekse; Herebian, Diran; Dipali, Kale; Hentschel, Andreas; Rademacher, Nina; Kraft, Florian; Horvath, Rita; Distelmaier, Felix; Meuth, Sven G.; Ruck, Tobias; Schara-Schmidt, Ulrike; Roos, Andreas Share Save
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome Della Marina, Adela; Koutsoulidou, Andrie; Natera-de Benito, Daniel; Tykocinski, Lars-Oliver; Tomazou, Marios; Georgiou, Kristia; Laner, Andreas; Koelbel, Heike; Nascimento, Andres; Ortez, Carlos; Abicht, Angela; Thakur, Basant Kumar; Lochmuller, Hanns; Phylactou, Leonidas A.; Ruck, Tobias; Schara-Schmidt, Ulrike; Kale, Dipali; Hentschel, Andreas; Roos, Andreas Share Save
Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy Manis, Cristina; Casula, Mattia; Roos, Andreas; Hentschel, Andreas; Vorgerd, Matthias; Pogoryelova, Oksana; Derksen, Alexa; Spendiff, Sally; Lochmueller, Hanns; Caboni, Pierluigi Share Save
Molecular composition of skeletal muscle in infants and adults: a comparative proteomic and transcriptomic study Schaiter, Alexander; Hentschel, Andreas; Kleefeld, Felix; Schuld, Julia; Umathum, Vincent; Procida-Kowalski, Tara; Nelke, Christopher; Roth, Angela; Hahn, Andreas; Kraemer, Heidrun H.; Ruck, Tobias; Horvath, Rita; van der Ven, Peter F. M.; Bartkuhn, Marek; Roos, Andreas; Schaenzer, Anne Share Save
Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant Della Marina, Adela; Hentschel, Andreas; Stenzel, Martin; Schara-Schmidt, Ulrike; Osmanovic, Alma; Ruck, Tobias; Grueneboom, Anika; Roebisch, Luisa; Beygo, Jasmin; Koelbel, Heike; Gangfuss, Andrea; Kaiser, Frank J.; Schaenzer, Anne; Kale, Dipali; Roos, Andreas Share Save
Anti-Ku plus myositis: an acquired inflammatory protein-aggregate myopathy Holzer, Marie-Therese; Uruha, Akinori; Roos, Andreas; Hentschel, Andreas; Schaenzer, Anne; Weis, Joachim; Claeys, Kristl G.; Schoser, Benedikt; Montagnese, Federica; Goebel, Hans-Hilmar; Huber, Melanie; Leonard-Louis, Sarah; Koetter, Ina; Streichenberger, Nathalie; Gallay, Laure; Benveniste, Olivier; Schneider, Udo; Preusse, Corinna; Krusche, Martin; Stenzel, Werner Share Save
Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus Bertino, Francesca; Mukherjee, Dibyanti; Bonora, Massimo; Bagowski, Christoph; Nardelli, Jeannette; Metani, Livia; Venturini, Diletta Isabella Zanin; Chianese, Diego; Santander, Nicolas; Salaroglio, Iris Chiara; Hentschel, Andreas; Quarta, Elisa; Genova, Tullio; Mckinney, Arpana Arjun; Allocco, Anna Lucia; Fiorito, Veronica; Petrillo, Sara; Ammirata, Giorgia; De Giorgio, Francesco; Dennis, Evan; Allington, Garrett; Maier, Felicitas; Shoukier, Moneef; Gloning, Karl-Philipp; Munaron, Luca; Mussano, Federico; Salsano, Ettore; Pareyson, Davide; di Rocco, Maja; Altruda, Fiorella; Panagiotakos, Georgia; Kahle, Kristopher T.; Gressens, Pierre; Riganti, Chiara; Pinton, Paolo P.; Roos, Andreas; Arnold, Thomas; Tolosano, Emanuela; Chiabrando, Deborah Share Save
Inter-alpha-trypsin inhibitor heavy chain H3 is a potential biomarker for disease activity in myasthenia gravis Schroeter, Christina B.; Nelke, Christopher; Stascheit, Frauke; Huntemann, Niklas; Preusse, Corinna; Dobelmann, Vera; Theissen, Lukas; Pawlitzki, Marc; Raeuber, Saskia; Willison, Alice; Vogelsang, Anna; Marina, Adela Della; Hartung, Hans-Peter; Melzer, Nico; Konen, Felix F.; Skripuletz, Thomas; Hentschel, Andreas; Koenig, Simone; Schweizer, Michaela; Stuehler, Kai; Poschmann, Gereon; Roos, Andreas; Stenzel, Werner; Meisel, Andreas; Meuth, Sven G.; Ruck, Tobias Share Save
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes Della Marina, Adela; Hentschel, Andreas; Czech, Artur; Schara-Schmidt, Ulrike; Preusse, Corinna; Laner, Andreas; Abicht, Angela; Ruck, Tobias; Weis, Joachim; Choueiri, Catherine; Lochmueller, Hanns; Koelbel, Heike; Roos, Andreas Share Save
Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy Roos, Andreas; Schmitt, Linda-Isabell; Hansmann, Christina; Hezel, Stefanie; Salmanian, Schahin; Hentschel, Andreas; Meyer, Nancy; Marina, Adela Della; Koelbel, Heike; Kleinschnitz, Christoph; Schara-Schmidt, Ulrike; Leo, Markus; Hagenacker, Tim Share Save
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2 Kleefeld, Felix; Horvath, Rita; Pinal-Fernandez, Iago; Mammen, Andrew L.; Casal-Dominguez, Maria; Hathazi, Denisa; Melchert, Sarah; Hahn, Katrin; Sickmann, Albert; Muselmann-Genschow, Claudia; Hentschel, Andreas; Preusse, Corinna; Roos, Andreas; Schoser, Benedikt; Stenzel, Werner Share Save
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