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	121.	Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy. [electronic resource] by Gidaro, Teresa Reyngoudt, Harmen Le Louër, Julien Behin, Anthony Toumi, Ferial Villeret, Melanie Araujo, Ericky C A Baudin, Pierre-Yves Marty, Benjamin Annoussamy, Melanie Hogrel, Jean-Yves Carlier, Pierre G Servais, Laurent Producer: 20201022 In: Journal of neurology vol. 267 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	122.	[Sialic Acid supplementation therapy for distal myopathy with rimmed vacuoles]. [electronic resource] by Nishino, Ichizo Noguchi, Satoru Producer: 20120717 In: Brain and nerve = Shinkei kenkyu no shinpo vol. 64 Availability: No items available. Save to lists Add to cart (remove)
	123.	Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion. [electronic resource] by Defour, A Van der Meulen, J H Bhat, R Bigot, A Bashir, R Nagaraju, K Jaiswal, J K Producer: 20150212 In: Cell death & disease vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	124.	Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. [electronic resource] by Dominov, Janice A Uyan, Özgün McKenna-Yasek, Diane Nallamilli, Babi Ramesh Reddy Kergourlay, Virginie Bartoli, Marc Levy, Nicolas Hudson, Judith Evangelista, Teresinha Lochmuller, Hanns Krahn, Martin Rufibach, Laura Hegde, Madhuri Brown, Robert H Producer: 20200218 In: Annals of clinical and translational neurology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	125.	Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination. [electronic resource] by Mensch, Alexander Kraya, Torsten Koester, Felicitas Müller, Tobias Stoevesandt, Dietrich Zierz, Stephan Producer: 20210618 In: Journal of neurology vol. 267 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	126.	Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification. [electronic resource] by Griggs, Robert C Udd, Bjarne A Producer: 20110622 In: Neuromolecular medicine vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	127.	X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene. [electronic resource] by D'Arcy, Colleen Kanellakis, Voula Forbes, Robin Wilding, Brendan McGrath, Meagan Howell, Katherine Ryan, Monique McLean, Catriona Producer: 20160408 In: Journal of child neurology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	128.	Flexi-Myo Panel Strategy: Genomic Diagnoses of Myopathies and Muscular Dystrophies by Next-Generation Sequencing. [electronic resource] by Lee, Han-Chih Hencher Lau, Wai-Ling Ko, Chun-Hung Lee, Kam-Cheong Cheng, Fung-Yip Wong, Shun Woo, Yip-Hin Mak, Chloe Miu Producer: 20201005 In: Genetic testing and molecular biomarkers vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	129.	Hereditary inclusion body myopathy in Persian Jews: a case report from Iran. [electronic resource] by Miryounesi, M Soltanzadeh, P Modarressi, M H Producer: 20141209 In: Clinical genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	130.	[Development of therapy for distal myopathy with rimmed vacuoles]. [electronic resource] by Nishino, Ichizo Malicdan, May Christine V Noguchi, Satoru Producer: 20100902 In: Rinsho shinkeigaku = Clinical neurology vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	131.	Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy. [electronic resource] by Evilä, Anni Palmio, Johanna Vihola, Anna Savarese, Marco Tasca, Giorgio Penttilä, Sini Lehtinen, Sara Jonson, Per Harald De Bleecker, Jan Rainer, Peter Auer-Grumbach, Michaela Pouget, Jean Salort-Campana, Emmanuelle Vilchez, Juan J Muelas, Nuria Olive, Montse Hackman, Peter Udd, Bjarne Producer: 20190508 In: Molecular neurobiology vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	132.	Caveolinopathies: from the biology of caveolin-3 to human diseases. [electronic resource] by Gazzerro, Elisabetta Sotgia, Federica Bruno, Claudio Lisanti, Michael P Minetti, Carlo Producer: 20100224 In: European journal of human genetics : EJHG vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	133.	Distal myopathy with rimmed vacuoles in a case of opercular syndrome. [electronic resource] by Toriumi, Yoshitaka Takusa, Yuichi Uchiyama, Atsushi Kimura, Masahiko Sejima, Hitoshi Yamaguchi, Seiji Eda, Isematsu Nishino, Ichizo Nonaka, Ikuya Producer: 20060919 In: Brain & development vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	134.	165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. [electronic resource] by Udd, B Producer: 20090827 In: Neuromuscular disorders : NMD vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	135.	Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. [electronic resource] by Lehtokari, Vilma-Lotta Pelin, Katarina Herczegfalvi, Agnes Karcagi, Veronika Pouget, Jean Franques, Jerôme Pellissier, Jean François Figarella-Branger, Dominique von der Hagen, Maja Huebner, Angela Schoser, Benedikt Lochmüller, Hanns Wallgren-Pettersson, Carina Producer: 20120119 In: Neuromuscular disorders : NMD vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	136.	Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients. [electronic resource] by Bartoli, Marc Desvignes, Jean-Pierre Nicolas, Levy Martin, Krahn Producer: 20150218 In: Muscle & nerve vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	137.	Neuromyology III. [electronic resource] by Carraro, Ugo Producer: 20120910 In: Neurological research vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	138.	Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy. [electronic resource] by Gallego-Iradi, M Carolina Clare, Alexis M Brown, Hilda H Janus, Christopher Lewis, Jada Borchelt, David R Producer: 20160608 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	139.	A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement. [electronic resource] by Park, Jin-Mo Kim, Ye Jin Yoo, Jeong Hyun Hong, Young Bin Park, Ji Hoon Koo, Heasoo Chung, Ki Wha Choi, Byung-Ok 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)
	140.	Genetics of GNE myopathy in the non-Jewish Persian population. [electronic resource] by Haghighi, Alireza Nafissi, Shahriar Qurashi, Abrar Tan, Zheng Shamshiri, Hosein Nilipour, Yalda Haghighi, Amirreza Desnick, Robert J Kornreich, Ruth Producer: 20161007 In: European journal of human genetics : EJHG vol. 24 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.