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	101.	Mutation in the caveolin-3 gene causes asymmetrical distal myopathy. [electronic resource] by Chen, Juanjuan Zeng, Wenshuang Han, Chunxi Wu, Jun Zhang, Haiou Tong, Xiaoxin Producer: 20170203 In: Neuropathology : official journal of the Japanese Society of Neuropathology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene. [electronic resource] by Ferbert, A Zibat, A Rautenstrauß, B Kress, W Hügens-Penzel, M Weis, J Shah, Y Roth, C Producer: 20180125 In: Neuromuscular disorders : NMD vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	Autosomal dominant distal myopathy due to a novel ACTA1 mutation. [electronic resource] by Liewluck, Teerin Sorenson, Eric J Walkiewicz, Magdalena A Rumilla, Kandelaria M Milone, Margherita Producer: 20180409 In: Neuromuscular disorders : NMD vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes. [electronic resource] by Suzuki, Naoki Aoki, Masashi Mizuno, Hideki Onodera, Yoshiaki Takahashi, Toshiaki Nagata, Tetsuya Tateyama, Maki Itoyama, Yasuto Producer: 20060221 In: Muscle & nerve vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. [electronic resource] by Homayoun, Houman Khavandgar, Simin Hoover, Jacqueline M Mohsen, Al-Walid Vockley, Jerry Lacomis, David Clemens, Paula R Producer: 20110610 In: Neuromuscular disorders : NMD vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy. [electronic resource] by Sim, Jae Eun Park, Hyung-Jun Shin, Ha Young Nam, Tai-Seung Kim, Seung Min Choi, Young-Chul Producer: 20140106 In: Yonsei medical journal vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	A report on GNE myopathy: Individuals of Rajasthan ancestry share the Roma gene. [electronic resource] by Khadilkar, Satish V Nallamilli, Babi Ramesh Reddy Bhutada, Ashish Hegde, Madhuri Gandhi, Khanjan Faldu, Hinaben Dayalal Patil, Sarika Bapuso Producer: 20180927 In: Journal of the neurological sciences vol. 375 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. [electronic resource] by Linssen, W H J P de Voogt, W G Krahn, M Bernard, R Levy, N Wokke, J H J Ginjaar, H B de Visser, M Producer: 20140127 In: European journal of neurology vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis. [electronic resource] by Mignarri, Andrea Carluccio, Maria Alessandra Malandrini, Alessandro Sicurelli, Francesco Galli, Lucia Mazzei, Maria Antonietta Federico, Antonio Orrico, Alfredo Dotti, Maria Teresa Producer: 20130107 In: Neuromuscular disorders : NMD vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy. [electronic resource] by Bennmann, Dorit Weidemann, Wenke Thate, Annett Kreuzmann, Denise Horstkorte, Rüdiger Producer: 20170621 In: The FEBS journal vol. 283 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	GNE myopathy in Chinese population: hotspot and novel mutations. [electronic resource] by Chen, Yang Xi, Jianying Zhu, Wenhua Lin, Jie Luo, Sushan Yue, Dongyue Cai, Shuang Sun, Chong Zhao, Chongbo Mitsuhashi, Satomi Nishino, Ichizo Xu, Minjie Lu, Jiahong Producer: 20190321 In: Journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations. [electronic resource] by Savarese, Marco Palmio, Johanna Poza, Juan José Weinberg, Jan Olive, Montse Cobo, Ana Maria Vihola, Anna Jonson, Per Harald Sarparanta, Jaakko García-Bragado, Federico Urtizberea, Jon Andoni Hackman, Peter Udd, Bjarne Producer: 20200330 In: Annals of neurology vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Late-onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin-containing protein. [electronic resource] by Boland-Freitas, Robert Graham, John Davis, Mark Geevasinga, Nimeshan Vucic, Steve Ng, Karl Producer: 20170817 In: Muscle & nerve vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy. [electronic resource] by Gemelli, Chiara Prada, Valeria Fiorillo, Chiara Fabbri, Sabrina Maggi, Lorenzo Geroldi, Alessandro Gibertini, Sara Mandich, Paola Trevisan, Lucia Fossa, Paola Tagliafico, Alberto Stefano Schenone, Angelo Grandis, Marina Producer: 20200528 In: Journal of the neurological sciences vol. 398 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	115.	Distal myopathies. [electronic resource] by Mastaglia, Frank L Lamont, Phillipa J Laing, Nigel G Producer: 20060314 In: Current opinion in neurology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	[A case of Japanese Laing type distal myopathy with a mutation in MYH7 gene]. [electronic resource] by Hara, Kenju Miyata, Hajime Nishino, Ichizo Producer: 20200302 In: Rinsho shinkeigaku = Clinical neurology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	[Cystinosis: an infrequent cause of distal myopathy]. [electronic resource] by Rodríguez-Gómez, F J López-Domínguez, J M Borrero-Martín, J J Rodríguez-Gómez, E Chinchón-Lara, I Pujol-De la Llave, E Producer: 20050912 In: Revista de neurologia vol. 40 Availability: No items available. Save to lists Add to cart (remove)
	118.	Impairment of respiratory function in late-onset distal myopathy due to MATR3 Mutation. [electronic resource] by Kraya, Torsten Schmidt, Bernd Müller, Tobias Hanisch, Frank Producer: 20150727 In: Muscle & nerve vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	Nationwide patient registry for GNE myopathy in Japan. [electronic resource] by Mori-Yoshimura, Madoka Hayashi, Yukiko K Yonemoto, Naohiro Nakamura, Harumasa Murata, Miho Takeda, Shin'ichi Nishino, Ichizo Kimura, En Producer: 20150330 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	120.	[Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)]. [electronic resource] by Nishino, Ichizo Noguchi, Satoru Producer: 20140421 In: Rinsho shinkeigaku = Clinical neurology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 315 results.