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	281.	Neuromuscular disorders: molecular and therapeutic insights. [electronic resource] by Mastaglia, Frank L Producer: 20050125 In: The Lancet. Neurology vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	282.	A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8. [electronic resource] by Bouhy, Delphine Juneja, Manisha Katona, Istvan Holmgren, Anne Asselbergh, Bob De Winter, Vicky Hochepied, Tino Goossens, Steven Haigh, Jody J Libert, Claude Ceuterick-de Groote, Chantal Irobi, Joy Weis, Joachim Timmerman, Vincent Producer: 20190624 In: Acta neuropathologica vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	283.	Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing. [electronic resource] by Tal-Goldberg, Tzukit Lorain, Stéphanie Mitrani-Rosenbaum, Stella Producer: 20150105 In: Neuromolecular medicine vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	284.	Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. [electronic resource] by Bánfai, Zsolt Hadzsiev, Kinga Pál, Endre Komlósi, Katalin Melegh, Márton Balikó, László Melegh, Béla Producer: 20170926 In: BMC medical genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	285.	A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. [electronic resource] by Dubourg, Odile Maisonobe, Thierry Behin, Anthony Suominen, Tiina Raheem, Olayinka Penttilä, Sini Parton, Matt Eymard, Bruno Dahl, Arve Udd, Bjarne Producer: 20110923 In: Journal of neurology vol. 258 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	286.	Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. [electronic resource] by Zhu, Wenhua Mitsuhashi, Satomi Yonekawa, Takahiro Noguchi, Satoru Huei, Josiah Chai Yui Nalini, Atchayaram Preethish-Kumar, Veeramani Yamamoto, Masayoshi Murakata, Kenji Mori-Yoshimura, Madoka Kamada, Sachiko Yahikozawa, Hiroyuki Karasawa, Masato Kimura, Seigo Yamashita, Fumitada Nishino, Ichizo 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)
	287.	Distal myopathy caused by homozygous missense mutations in the nebulin gene. [electronic resource] by Wallgren-Pettersson, Carina Lehtokari, Vilma-Lotta Kalimo, Hannu Paetau, Anders Nuutinen, Elina Hackman, Peter Sewry, Caroline Pelin, Katarina Udd, Bjarne 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)
	288.	Characterization of the Asian myopathy patients with VCP mutations. [electronic resource] by Shi, Z Hayashi, Y K Mitsuhashi, S Goto, K Kaneda, D Choi, Y-C Toyoda, C Hieda, S Kamiyama, T Sato, H Wada, M Noguchi, S Nonaka, I Nishino, I Producer: 20120607 In: European journal of neurology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	289.	Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease. [electronic resource] by Slota, Christina Bevans, Margaret Yang, Li Shrader, Joseph Joe, Galen Carrillo, Nuria Producer: 20181008 In: Disability and rehabilitation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	290.	A rare mutation in MYH7 gene occurs with overlapping phenotype. [electronic resource] by Ruggiero, Lucia Fiorillo, Chiara Gibertini, Sara De Stefano, Francesco Manganelli, Fiore Iodice, Rosa Vitale, Floriana Zanotti, Simona Galderisi, Maurizio Mora, Marina Santoro, Lucio Producer: 20150709 In: Biochemical and biophysical research communications vol. 457 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	291.	Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. [electronic resource] by Hackman, Peter Sarparanta, Jaakko Lehtinen, Sara Vihola, Anna Evilä, Anni Jonson, Per Harald Luque, Helena Kere, Juha Screen, Mark Chinnery, Patrick F Åhlberg, Gabrielle Edström, Lars Udd, Bjarne Producer: 20140505 In: Annals of neurology vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	292.	Phenotype of matrin-3-related distal myopathy in 16 German patients. [electronic resource] by Müller, Tobias J Kraya, Torsten Stoltenburg-Didinger, Gisela Hanisch, Frank Kornhuber, Malte Stoevesandt, Dietrich Senderek, Jan Weis, Joachim Baum, Petra Deschauer, Marcus Zierz, Stephan Producer: 20141223 In: Annals of neurology vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	293.	Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy. [electronic resource] by Ro, Long-Sun Lee-Chen, Guey-Jen Lin, Tzu-Ching Wu, Yih-Ru Chen, Chiung-Mei Lin, Cheng-Yueh Chen, Sien-Tsong Producer: 20041203 In: Archives of neurology vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	294.	DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. [electronic resource] by Zhao, Zhe Hu, Jing Sakiyama, Yusuke Okamoto, Yuji Higuchi, Itsuro Li, Na Shen, Hongrui Takashima, Hiroshi Producer: 20140220 In: Clinical neurology and neurosurgery vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	295.	Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis. [electronic resource] by Weihl, Conrad C Baloh, Robert H Lee, Youjin Chou, Tsui-Fen Pittman, Sara K Lopate, Glenn Allred, Peggy Jockel-Balsarotti, Jennifer Pestronk, Alan Harms, Matthew B Producer: 20151207 In: Neuromuscular disorders : NMD vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	296.	Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice. [electronic resource] by Yonekawa, Takahiro Malicdan, May Christine V Cho, Anna Hayashi, Yukiko K Nonaka, Ikuya Mine, Toshiki Yamamoto, Takeshi Nishino, Ichizo Noguchi, Satoru Producer: 20141104 In: Brain : a journal of neurology vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	297.	Targeting GNE Myopathy: A Dual Prodrug Approach for the Delivery of [electronic resource] by Morozzi, Chiara Sedláková, Jana Serpi, Michaela Avigliano, Marialuce Carbajo, Rosangela Sandoval, Lucia Valles-Ayoub, Yadira Crutcher, Patrick Thomas, Stephen Pertusati, Fabrizio Producer: 20200629 In: Journal of medicinal chemistry vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	298.	Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. [electronic resource] by Klar, Joakim Sobol, Maria Melberg, Atle Mäbert, Katrin Ameur, Adam Johansson, Anna C V Feuk, Lars Entesarian, Miriam Orlén, Hanna Casar-Borota, Olivera Dahl, Niklas Producer: 20130906 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	299.	Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. [electronic resource] by Ten Dam, Leroy van der Kooi, Anneke J Rövekamp, Fleur Linssen, Wim H J P de Visser, Marianne Producer: 20150727 In: Neuromuscular disorders : NMD vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	300.	Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro. [electronic resource] by Tanaka, Akihito Woltjen, Knut Miyake, Katsuya Hotta, Akitsu Ikeya, Makoto Yamamoto, Takuya Nishino, Tokiko Shoji, Emi Sehara-Fujisawa, Atsuko Manabe, Yasuko Fujii, Nobuharu Hanaoka, Kazunori Era, Takumi Yamashita, Satoshi Isobe, Ken-Ichi Kimura, En Sakurai, Hidetoshi Producer: 20131126 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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