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	241.	Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. [electronic resource] by Lamont, P J Udd, B Mastaglia, F L de Visser, M Hedera, P Voit, T Bridges, L R Fabian, V Rozemuller, A Laing, N G Producer: 20060313 In: Journal of neurology, neurosurgery, and psychiatry vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	242.	Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. [electronic resource] by Lamont, Phillipa J Wallefeld, William Hilton-Jones, David Udd, Bjarne Argov, Zohar Barboi, Alexandru C Bonneman, Carsten Boycott, Kym M Bushby, Kate Connolly, Anne M Davies, Nicholas Beggs, Alan H Cox, Gerald F Dastgir, Jahannaz DeChene, Elizabeth T Gooding, Rebecca Jungbluth, Heinz Muelas, Nuria Palmio, Johanna Penttilä, Sini Schmedding, Eric Suominen, Tiina Straub, Volker Staples, Christopher Van den Bergh, Peter Y K Vilchez, Juan J Wagner, Kathryn R Wheeler, Patricia G Wraige, Elizabeth Laing, Nigel G Producer: 20150123 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	243.	Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. [electronic resource] by Saechao, Chai Valles-Ayoub, Yadira Esfandiarifard, Saghi Haghighatgoo, Arman No, Daniel Shook, Steven Mendell, Jerry R Rosales-Quintero, Xiomara Felice, Kevin J Morel, Chantal F Pietruska, Marvin Darvish, Daniel Producer: 20100729 In: Genetic testing and molecular biomarkers vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	244.	CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. [electronic resource] by Charton, Karine Sarparanta, Jaakko Vihola, Anna Milic, Astrid Jonson, Per Harald Suel, Laurence Luque, Helena Boumela, Imène Richard, Isabelle Udd, Bjarne Producer: 20160428 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	245.	Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent. [electronic resource] by Bhattacharya, Sudha Khadilkar, Satish V Nalini, Atchayaram Ganapathy, Aparna Mannan, Ashraf U Majumder, Partha P Bhattacharya, Alok Producer: 20180605 In: Journal of neuromuscular diseases vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	246.	A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function. [electronic resource] by Tsai, P-C Tsai, Y-S Soong, B-W Huang, Y-H Wu, H-T Chen, Y-H Lin, K-P Liao, Y-C Lee, Y-C Producer: 20180418 In: Clinical genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	247.	Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report. [electronic resource] by Astrea, Guja Petrucci, Antonio Cassandrini, Denise Savarese, Marco Trovato, Rosanna Lispi, Ludovico Rubegni, Anna Giacanelli, Manlio Massa, Roberto Nigro, Vincenzo Santorelli, Filippo M Producer: 20160511 In: BMC medical genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	248.	A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. [electronic resource] by Kimber, E Tajsharghi, H Kroksmark, A-K Oldfors, A Tulinius, M Producer: 20060913 In: Neurology vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	249.	Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy. [electronic resource] by Cader, Muhammed Z Ren, Jingshan James, Paul A Bird, Louise E Talbot, Kevin Stammers, David K Producer: 20070816 In: FEBS letters vol. 581 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	250.	RYR1 causing distal myopathy. [electronic resource] by Laughlin, Ruple S Niu, Zhiyv Wieben, Eric Milone, Margherita Producer: 20180119 In: Molecular genetics & genomic medicine vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	251.	[Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement]. [electronic resource] by Kraya, T Kress, W Stoevesant, D Deschauer, M Zierz, S Producer: 20130823 In: Der Nervenarzt vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	252.	MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. [electronic resource] by Muelas, N Hackman, P Luque, H Garcés-Sánchez, M Azorín, I Suominen, T Sevilla, T Mayordomo, F Gómez, L Martí, P María Millán, J Udd, B Vílchez, J J Producer: 20101018 In: Neurology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	253.	Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype. [electronic resource] by Moloney, Christina Rayaprolu, Sruti Howard, John Fromholt, Susan Brown, Hilda Collins, Matt Cabrera, Mariela Duffy, Colin Siemienski, Zoe Miller, Dave Swanson, Maurice S Notterpek, Lucia Borchelt, David R Lewis, Jada Producer: 20170621 In: Acta neuropathologica communications vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	254.	Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy. [electronic resource] by Broccolini, A Gidaro, T Tasca, G Morosetti, R Rodolico, C Ricci, E Mirabella, M Producer: 20100806 In: Neurology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	255.	Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. [electronic resource] by Ackermann, Maegen A Patel, Puja D Valenti, Jane Takagi, Yasuharu Homsher, Earl Sellers, James R Kontrogianni-Konstantopoulos, Aikaterini Producer: 20131216 In: FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	256.	Dysferlin mutations and mitochondrial dysfunction. [electronic resource] by Vincent, Amy E Rosa, Hannah S Alston, Charlotte L Grady, John P Rygiel, Karolina A Rocha, Mariana C Barresi, Rita Taylor, Robert W Turnbull, Doug M 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)
	257.	Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. [electronic resource] by Komlósi, Katalin Hadzsiev, Kinga Garbes, Lutz Martínez Carrera, Lilian A Pál, Endre Sigurðsson, Jóhann Haukur Magnusson, Olafur Melegh, Béla Wirth, Brunhilde Producer: 20141029 In: Neuromuscular disorders : NMD vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	258.	The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. [electronic resource] by Reilich, Peter Schoser, Benedikt Schramm, Nicolai Krause, Sabine Schessl, Joachim Kress, Wolfram Müller-Höcker, Josef Walter, Maggie C Lochmuller, Hanns Producer: 20100729 In: Neuromuscular disorders : NMD vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	259.	UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis. [electronic resource] by Hinderlich, Stephan Weidemann, Wenke Yardeni, Tal Horstkorte, Rüdiger Huizing, Marjan Producer: 20151106 In: Topics in current chemistry vol. 366 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	260.	Dominant collagen XII mutations cause a distal myopathy. [electronic resource] by Mohassel, Payam Liewluck, Teerin Hu, Ying Ezzo, Daniel Ogata, Tracy Saade, Dimah Neuhaus, Sarah Bolduc, Véronique Zou, Yaqun Donkervoort, Sandra Medne, Livija Sumner, Charlotte J Dyck, P James B Wierenga, Klaas J Tennekoon, Gihan Finkel, Richard S Chen, Jiani Winder, Thomas L Staff, Nathan P Foley, A Reghan Koch, Manuel Bönnemann, Carsten G Producer: 20200907 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)

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