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	301.	Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content. [electronic resource] by Kyriakou, Kalia Lederer, Carsten W Kleanthous, Marina Drousiotou, Anthi Malekkou, Anna Producer: 20201208 In: International journal of molecular sciences vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	302.	Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy. [electronic resource] by Shunchang, Sun Fan, Qishi Huacheng, Wu Leturcq, France Yongjian, Song Bingfeng, Zhang Wen, Yu Deburgrave, Nathalie Producer: 20060811 In: Clinical neurology and neurosurgery vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	303.	A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles. [electronic resource] by Williams, D R Reardon, K Roberts, L Dennet, X Duff, R Laing, N G Byrne, E Producer: 20060210 In: Neurology vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	304.	Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. [electronic resource] by Senderek, Jan Garvey, Sean M Krieger, Michael Guergueltcheva, Velina Urtizberea, Andoni Roos, Andreas Elbracht, Miriam Stendel, Claudia Tournev, Ivailo Mihailova, Violeta Feit, Howard Tramonte, Jeff Hedera, Peter Crooks, Kristy Bergmann, Carsten Rudnik-Schöneborn, Sabine Zerres, Klaus Lochmüller, Hanns Seboun, Eric Weis, Joachim Beckmann, Jacques S Hauser, Michael A Jackson, Charles E Producer: 20090424 In: American journal of human genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	305.	[Modeling muscular diseases by patient-derived iPS cells]. [electronic resource] by Sakurai, Hidetoshi Producer: 20160721 In: Nihon yakurigaku zasshi. Folia pharmacologica Japonica vol. 147 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	306.	Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells. [electronic resource] by Azakir, Bilal A Di Fulvio, Sabrina Kinter, Jochen Sinnreich, Michael Producer: 20120516 In: The Journal of biological chemistry vol. 287 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	307.	Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). [electronic resource] by Hackman, Peter Marchand, Sylvie Sarparanta, Jaakko Vihola, Anna Pénisson-Besnier, Isabelle Eymard, Bruno Pardal-Fernández, Jose Manuel Hammouda, El-Hadi Richard, Isabelle Illa, Isabel Udd, Bjarne Producer: 20090319 In: Neuromuscular disorders : NMD vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	308.	Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. [electronic resource] by O'Grady, Gina L Best, Heather A Sztal, Tamar E Schartner, Vanessa Sanjuan-Vazquez, Myriam Donkervoort, Sandra Abath Neto, Osorio Sutton, Roger Bryan Ilkovski, Biljana Romero, Norma Beatriz Stojkovic, Tanya Dastgir, Jahannaz Waddell, Leigh B Boland, Anne Hu, Ying Williams, Caitlin Ruparelia, Avnika A Maisonobe, Thierry Peduto, Anthony J Reddel, Stephen W Lek, Monkol Tukiainen, Taru Cummings, Beryl B Joshi, Himanshu Nectoux, Juliette Brammah, Susan Deleuze, Jean-François Ing, Viola Oorschot Ramm, Georg Ardicli, Didem Nowak, Kristen J Talim, Beril Topaloglu, Haluk Laing, Nigel G North, Kathryn N MacArthur, Daniel G Friant, Sylvie Clarke, Nigel F Bryson-Richardson, Robert J Bönnemann, Carsten G Laporte, Jocelyn Cooper, Sandra T Producer: 20170519 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	309.	Interaction between the AAA [electronic resource] by Rao, Maya V Williams, Dewight R Cocklin, Simon Loll, Patrick J Producer: 20171219 In: The Journal of biological chemistry vol. 292 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	310.	The p.S85C-mutation in MATR3 impairs stress granule formation in Matrin-3 myopathy. [electronic resource] by Mensch, Alexander Meinhardt, Beate Bley, Nadine Hüttelmaier, Stefan Schneider, Ilka Stoltenburg-Didinger, Gisela Kraya, Torsten Müller, Tobias Zierz, Stephan Producer: 20190128 In: Experimental neurology vol. 306 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	311.	[GNE myopathy]. [electronic resource] by Urtizberea, J Andoni Béhin, Anthony Producer: 20160901 In: Medecine sciences : M/S vol. 31 Spec No 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	312.	A mutant MATR3 mouse model to explain multisystem proteinopathy. [electronic resource] by Zhang, Xiao Yamashita, Satoshi Hara, Kentaro Doki, Tsukasa Tawara, Nozomu Ikeda, Tokunori Misumi, Yohei Zhang, Ziwei Matsuo, Yoshimasa Nagai, Makiko Kurashige, Takashi Maruyama, Hirofumi Ando, Yukio Producer: 20200413 In: The Journal of pathology vol. 249 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	313.	Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy. [electronic resource] by Nogalska, Anna D'Agostino, Carla Engel, W King Cacciottolo, Mafalda Asada, Shinichi Mori, Kazutoshi Askanas, Valerie Producer: 20150727 In: Journal of neuropathology and experimental neurology vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	314.	Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts. [electronic resource] by Harazi, Avi Chaouat, Malka Shlomai, Zippora Levitzki, Robina Becker-Cohen, Michal Sadeh, Menachem Dabby, Ron Ben-Bassat, Hannah Mitrani-Rosenbaum, Stella Producer: 20160816 In: Journal of receptor and signal transduction research vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	315.	Full-length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells. [electronic resource] by Meregalli, Mirella Navarro, Claire Sitzia, Clementina Farini, Andrea Montani, Erica Wein, Nicolas Razini, Paola Beley, Cyriaque Cassinelli, Letizia Parolini, Daniele Belicchi, Marzia Parazzoli, Dario Garcia, Luis Torrente, Yvan Producer: 20140122 In: The FEBS journal vol. 280 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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