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SaveShare Save Share Save Morphologic and Molecular Patterns of Polymyositis With Mitochondrial Pathology and Inclusion Body Myositis
Kleefeld, Felix; Uruha, Akinori; Schanzer, Anne; Nishimura, Anna; Roos, Andreas; Schneider, Udo; Goebel, Hans H.; Schuelke, Markus; Hahn, Katrin; Preusse, Corinna; Stenzel, Werner Share Save Share Save Share Save SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and humanVietxuan Phan; Cox, Dan; Cipriani, Silvia; Spendiff, Sally; Buchkremer, Stephan; O'Connor, Emily; Horvath, Rita; Goebel, Hans Hilmar; Hathazi, Denisa; Lochmueller, Hanns; Straka, Tatjana; Rudolf, Ruediger; Weis, Joachim; Roos, Andreas Share Save Share Save Autophagic vacuolar myopathy is a common feature of CLN3 diseaseRadke, Josefine; Koll, Randi; Gill, Esther; Wiese, Lars; Schulz, Angela; Kohlschuetter, Alfried; Schuelke, Markus; Hagel, Christian; Stenzel, Werner; Goebel, Hans H. Share Save TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutationsLee, YouJin; Jonson, Per Harald; Sarparanta, Jaakko; Palmio, Johanna; Sarkar, Mohona; Vihola, Anna; Evila, Anni; Suominen, Tiina; Penttila, Sini; Savarese, Marco; Johari, Mridul; Minot, Marie-Christine; Hilton-Jones, David; Maddison, Paul; Chinnery, Patrick; Reimann, Jens; Kornblum, Cornelia; Kraya, Torsten; Zierz, Stephan; Sue, Carolyn; Goebel, Hans; Azfer, Asim; Ralston, Stuart H.; Hackman, Peter; Bucelli, Robert C.; Taylor, J. Paul; Weihl, Conrad C.; Udd, Bjarne Share Save Share Save Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone FracturesKnierim, Ellen; Hirata, Hiromi; Wolf, Nicole I.; Morales-Gonzalez, Susanne; Schottmann, Gudrun; Tanaka, Yu; Rudnik-Schoeneborn, Sabine; Orgeur, Mickael; Zerres, Klaus; Vogt, Stefanie; van Riesen, Anne; Gill, Esther; Seifert, Franziska; Zwirner, Angelika; Kirschner, Janbernd; Goebel, Hans Hilmar; Huebner, Christoph; Stricker, Sigmar; Meierhofer, David; Stenzel, Werner; Schuelke, Markus Share Save Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathyStenzel, Werner; Preusse, Corinna; Allenbach, Yves; Pehl, Debora; Junckerstorff, Reimar; Heppner, Frank L.; Nolte, Kay; Aronica, Eleonora; Kana, Veronika; Rushing, Elisabeth; Schneider, Udo; Claeys, Kristl G.; Benveniste, Olivier; Weis, Joachim; Goebel, Hans H. Share Save Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axonsKlein, Christopher J.; Wu, Yanhong; Vogel, Peter; Goebel, Hans H.; Boennemann, Carsten; Zukosky, Kristen; Botuyan, Maria-Victoria; Duan, Xiaohui; Middha, Sumit; Atkinson, Elizabeth J.; Mer, Georges; Dyck, Peter J. Share Save De Novo Prion Aggregates Trigger Autophagy in Skeletal MuscleJoshi-Barr, Shivanjali; Bett, Cyrus; Chiang, Wei-Chieh; Trejo, Margarita; Goebel, Hans H.; Sikorska, Beata; Liberski, Pawel; Raeber, Alex; Lin, Jonathan H.; Masliah, Eliezer; Sigurdson, Christina J. Share Save Myopathy in Marinesco-Sjogren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathologyRoos, Andreas; Buchkremer, Stephan; Kollipara, Laxmikanth; Labisch, Thomas; Gatz, Christian; Zitzelsberger, Manuela; Brauers, Eva; Nolte, Kay; Schroeder, J. Michael; Kirschner, Janbernd; Jesse, Christopher Marvin; Goebel, Hans Hilmar; Goswami, Anand; Zimmermann, Richard; Zahedi, Rene Peiman; Senderek, Jan; Weis, Joachim Share Save SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeKrieger, Michael; Roos, Andreas; Stendel, Claudia; Claeys, Kristl G.; Sonmez, Fatma Mujgan; Baudis, Michael; Bauer, Peter; Bornemann, Antje; de Goede, Christian; Dufke, Andreas; Finkel, Richard S.; Goebel, Hans H.; Haeussler, Martin; Kingston, Helen; Kirschner, Janbernd; Medne, Livija; Muschke, Petra; Rivier, Francois; Rudnik-Schoeneborn, Sabine; Spengler, Sabrina; Inzana, Francesca; Stanzial, Franco; Benedicenti, Francesco; Synofzik, Matthis; Lia Taratuto, Ana; Pirra, Laura; Tay, Stacey Kiat-Hong; Topaloglu, Haluk; Uyanik, Goekhan; Wand, Dorothea; Williams, Denise; Zerres, Klaus; Weis, Joachim; Senderek, Jan Share Save Share Save Share Save Share Save 
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