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	261.	Increasing Role of Titin Mutations in Neuromuscular Disorders. [electronic resource] by Savarese, Marco Sarparanta, Jaakko Vihola, Anna Udd, Bjarne Hackman, Peter Producer: 20180315 In: Journal of neuromuscular diseases vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	262.	[GNE myopathy: proven failure of sialic acid supplementation… what's next?] [electronic resource] by Marion, Sylvie Béhin, Anthony Attarian, Shahram Producer: 20190515 In: Medecine sciences : M/S vol. 33 Hors série n°1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	263.	Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. [electronic resource] by Bevilacqua, Jorge A Krahn, Martin Pedraza, Luis Gejman, Roger Gonzalez, Sergio Lévy, Nicolas Producer: 20090615 In: Genetic testing and molecular biomarkers vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	264.	Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. [electronic resource] by Feinstein-Linial, Miora Buvoli, Massimo Buvoli, Ada Sadeh, Menachem Dabby, Ron Straussberg, Rachel Shelef, Ilan Dayan, Daniel Leinwand, Leslie Anne Birk, Ohad S Producer: 20170502 In: BMC medical genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	265.	The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. [electronic resource] by Reddy, Hemakumar M Cho, Kyung-Ah Lek, Monkol Estrella, Elicia Valkanas, Elise Jones, Michael D Mitsuhashi, Satomi Darras, Basil T Amato, Anthony A Lidov, Hart Gw Brownstein, Catherine A Margulies, David M Yu, Timothy W Salih, Mustafa A Kunkel, Louis M MacArthur, Daniel G Kang, Peter B Producer: 20170524 In: Journal of human genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	266.	A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. [electronic resource] by Carbonell-Corvillo, P Tristán-Clavijo, E Cabrera-Serrano, M Servián-Morilla, E García-Martín, G Villarreal-Pérez, L Rivas-Infante, E Area-Gómez, E Chamorro-Muñoz, M I Gil-Gálvez, A Miranda-Vizuete, A Martinez-Mir, A Laing, N Paradas, C Producer: 20191031 In: Neuromuscular disorders : NMD vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	267.	Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. [electronic resource] by Schramm, Nicolai Born, Christine Weckbach, Sabine Reilich, Peter Walter, Maggie C Reiser, Maximilian F Producer: 20090406 In: European radiology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	268.	Different early pathogenesis in myotilinopathy compared to primary desminopathy. [electronic resource] by Fischer, Dirk Clemen, Christoph S Olivé, Montse Ferrer, Isidro Goudeau, Bertrand Roth, Udo Badorf, Petra Wattjes, Mike P Lutterbey, Götz Kral, Thomas van der Ven, Peter F M Fürst, Dieter O Vicart, Patrick Goldfarb, Lev G Moza, Monica Carpen, Olli Reichelt, Julia Schröder, Rolf Producer: 20061108 In: Neuromuscular disorders : NMD vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	269.	Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. [electronic resource] by Zygmunt, Deborah A Crowe, Kelly E Flanigan, Kevin M Martin, Paul T Producer: 20180501 In: Human gene therapy vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	270.	A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. [electronic resource] by Malicdan, May Christine V Noguchi, Satoru Nonaka, Ikuya Hayashi, Yukiko K Nishino, Ichizo Producer: 20070405 In: Human molecular genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	271.	Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. [electronic resource] by Charton, Karine Danièle, Nathalie Vihola, Anna Roudaut, Carinne Gicquel, Evelyne Monjaret, François Tarrade, Anne Sarparanta, Jaakko Udd, Bjarne Richard, Isabelle Producer: 20110510 In: Human molecular genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	272.	Distal myopathy with ADSSL1 mutations in Korean patients. [electronic resource] by Park, Hyung Jun Shin, Ha Young Kim, Sungjun Kim, Se Hoon Lee, Yunbeom Lee, Jung Hwan Hong, Ji-Man Kim, Seung Min Park, Kee Duk Choi, Byung-Ok Lee, Ji Hyun Choi, Young-Chul Producer: 20180221 In: Neuromuscular disorders : NMD vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	273.	Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. [electronic resource] by Xu, Xin Wang, Amy Q Latham, Lea L Celeste, Frank Ciccone, Carla Malicdan, May Christine Goldspiel, Barry Terse, Pramod Cradock, James Yang, Nora Yorke, Selwyn McKew, John C Gahl, William A Huizing, Marjan Carrillo, Nuria Producer: 20180518 In: Molecular genetics and metabolism vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	274.	Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms. [electronic resource] by Pramono, Zacharias Aloysius Dwi Tan, Chin Lai Seah, Irene Ai Lian See, Joseph Shean Long Kam, Siok Yuen Lai, Poh San Yee, Woon Chee Producer: 20090519 In: Human genetics vol. 125 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	275.	Heterogeneous characteristics of Korean patients with dysferlinopathy. [electronic resource] by Park, Hyung Jun Hong, Ji-Man Suh, Gyoung Im Shin, Ha Young Kim, Seung Min Sunwoo, Il Nam Suh, Bum Chun Choi, Young-Chul Producer: 20120718 In: Journal of Korean medical science vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	276.	Novel DYSF mutations in Thai patients with distal myopathy. [electronic resource] by Liewluck, Teerin Pongpakdee, Sunsanee Witoonpanich, Rawiphan Sangruchi, Tumtip Pho-Iam, Theeraphong Limwongse, Chanin Thongnoppakhun, Wanna Boonyapisit, Kanokwan Sopassathit, Varisa Phudhichareonrat, Suchart Suthiponpaisan, Udom Raksadawan, Natte Goto, Kanako Hayashi, Yukiko K Nishino, Ichizo Producer: 20090928 In: Clinical neurology and neurosurgery vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	277.	Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy. [electronic resource] by Screen, Mark Raheem, Olayinka Holmlund-Hampf, Jeanette Jonson, Per Harald Huovinen, Sanna Hackman, Peter Udd, Bjarne Producer: 20150529 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	278.	GNE myopathy: a prospective natural history study of disease progression. [electronic resource] by Mori-Yoshimura, Madoka Oya, Yasushi Yajima, Hiroyuki Yonemoto, Naohiro Kobayashi, Yoko Hayashi, Yukiko K Noguchi, Satoru Nishino, Ichizo Murata, Miho Producer: 20141210 In: Neuromuscular disorders : NMD vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	279.	TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. [electronic resource] by Lee, YouJin Jonson, Per Harald Sarparanta, Jaakko Palmio, Johanna Sarkar, Mohona Vihola, Anna Evilä, Anni Suominen, Tiina Penttilä, 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 Producer: 20190715 In: The Journal of clinical investigation vol. 128 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	280.	Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. [electronic resource] by Walter, M C Reilich, P Huebner, A Fischer, D Schröder, R Vorgerd, M Kress, W Born, C Schoser, B G Krause, K H Klutzny, U Bulst, S Frey, J R Lochmüller, H Producer: 20070627 In: Brain : a journal of neurology vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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