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	221.	Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). [electronic resource] by Cho, Anna Hayashi, Yukiko K Monma, Kazunari Oya, Yasushi Noguchi, Satoru Nonaka, Ikuya Nishino, Ichizo Producer: 20140825 In: Journal of neurology, neurosurgery, and psychiatry vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	222.	Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. [electronic resource] by Xi, Jianying Blandin, Gaelle Lu, Jiahong Luo, Sushan Zhu, Wenhua Béroud, Christophe Pécheux, Christophe Labelle, Véronique Lévy, Nicolas Urtizberea, Jon Andoni Zhao, Chongbo Krahn, Martin Producer: 20150326 In: Neurology India vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	223.	Clinical myopathy in patients with nephropathic cystinosis. [electronic resource] by Sadjadi, Reza Sullivan, Stacey Grant, Natalie Thomas, Susan E Doyle, Maya Hammond, Colleen Duong, Rachel Corre, Camille David, William Eichler, Florian Producer: 20200330 In: Muscle & nerve vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	224.	UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles). [electronic resource] by Ishihara, Shoichiro Tomimitsu, Hiroyuki Fujigasaki, Hiroto Saito, Fumiaki Mizusawa, Hidehiro Producer: 20091102 In: Journal of medical and dental sciences vol. 55 Availability: No items available. Save to lists Add to cart (remove)
	225.	[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]. [electronic resource] by Béhin, A Dubourg, O Laforêt, P Pêcheux, C Bernard, R Lévy, N Eymard, B Producer: 20080825 In: Revue neurologique vol. 164 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	226.	Cystinosis distal myopathy, novel clinical, pathological and genetic features. [electronic resource] by Cabrera-Serrano, Macarena Junckerstorff, Reimar C Alisheri, Ali Pestronk, Alan Laing, Nigel G Weihl, Conrad C Lamont, Phillipa J Producer: 20180502 In: Neuromuscular disorders : NMD vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	227.	ANO5 mutations in the Dutch limb girdle muscular dystrophy population. [electronic resource] by van der Kooi, Anneke J Ten Dam, Leroy Frankhuizen, Wendy S Straathof, Chiara S M van Doorn, Pieter A de Visser, Marianne Ginjaar, Ieke B Producer: 20140213 In: Neuromuscular disorders : NMD vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	228.	A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. [electronic resource] by Perić, Stojan Glumac, Jelena Nikodinović Töpf, Ana Savić-Pavićević, Dušanka Phillips, Lauren Johnson, Katherine Cassop-Thompson, Marcus Xu, Liwen Bertoli, Marta Lek, Monkol MacArthur, Daniel Brkušanin, Miloš Milenković, Sanja Rašić, Vedrana Milić Banko, Bojan Maksimović, Ružica Lochmüller, Hanns Stojanović, Vidosava Rakočević Straub, Volker Producer: 20170428 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	229.	Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. [electronic resource] by Schessl, Joachim Kress, Wolfram Schoser, Benedikt Producer: 20120604 In: Muscle & nerve vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	230.	A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy. [electronic resource] by Rossi, Daniela Palmio, Johanna Evilä, Anni Galli, Lucia Barone, Virginia Caldwell, Tracy A Policke, Rachel A Aldkheil, Esraa Berndsen, Christopher E Wright, Nathan T Malfatti, Edoardo Brochier, Guy Pierantozzi, Enrico Jordanova, Albena Guergueltcheva, Velina Romero, Norma Beatriz Hackman, Peter Eymard, Bruno Udd, Bjarne Sorrentino, Vincenzo Producer: 20171120 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	231.	ZASPopathy with childhood-onset distal myopathy. [electronic resource] by Strach, Katharina Reimann, Jens Thomas, Daniel Naehle, Claas P Kress, Wolfram Kornblum, Cornelia Producer: 20121126 In: Journal of neurology vol. 259 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	232.	When myopathy breaks the rules: a late-onset distal presentation. [electronic resource] by Newby, Rachel Jamieson, Stuart Udd, Bjarne Alty, Jane Producer: 20160301 In: BMJ case reports vol. 2015 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	233.	Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. [electronic resource] by Cirak, Sebahattin von Deimling, Florian Sachdev, Shrikesh Errington, Wesley J Herrmann, Ralf Bönnemann, Carsten Brockmann, Knut Hinderlich, Stephan Lindner, Tom H Steinbrecher, Alice Hoffmann, Katrin Privé, Gilbert G Hannink, Mark Nürnberg, Peter Voit, Thomas Producer: 20100720 In: Brain : a journal of neurology vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	234.	Zaspopathy in a large classic late-onset distal myopathy family. [electronic resource] by Griggs, R Vihola, A Hackman, P Talvinen, K Haravuori, H Faulkner, G Eymard, B Richard, I Selcen, D Engel, A Carpen, O Udd, B 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)
	235.	Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family. [electronic resource] by Chu, Chun-Che Kuo, Hung-Chou Yeh, Tu-Hsueh Ro, Long-Sun Chen, Shyue-Ru Huang, Chin-Chang Producer: 20070508 In: Clinical neurology and neurosurgery vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	236.	A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family. [electronic resource] by Liu, Xiang-Yi Zhang, Ying-Shuang Sun, A-Ping Zhong, Yan-Feng Zheng, Dan-Feng Fan, Dong-Sheng Producer: 20190722 In: Chinese medical journal vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	237.	A Gne knockout mouse expressing human GNE D176V 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: 20071220 In: Human molecular genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	238.	Clinical assessment determines the diagnosis of inclusion body myositis independently of pathological features. [electronic resource] by Brady, Stefen Squier, Waney Hilton-Jones, David Producer: 20131125 In: Journal of neurology, neurosurgery, and psychiatry vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	239.	Development and preliminary evidence of the psychometric properties of the GNE myopathy functional activity scale. [electronic resource] by Mayhew, Jill Bonner, Nicola Arbuckle, Rob Turnbull, Alice Bowden, Alexandra Skrinar, Alison Producer: 20190919 In: Journal of comparative effectiveness research vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	240.	Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. [electronic resource] by Jonson, P H Palmio, J Johari, M Penttilä, S Evilä, A Nelson, I Bonne, G Wiart, N Meyer, V Boland, A Deleuze, J-F Masson, C Stojkovic, T Chapon, F Romero, N B Solé, G Ferrer, X Ferreiro, A Hackman, P Richard, I Udd, B Producer: 20190315 In: European journal of neurology vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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