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	201.	The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. [electronic resource] by Pollazzon, Marzia Suominen, Tiina Penttilä, Sini Malandrini, Alessandro Carluccio, Maria Alessandra Mondelli, Mauro Marozza, Annabella Federico, Antonio Renieri, Alessandra Hackman, Peter Dotti, Maria Teresa Udd, Bjarne Producer: 20100623 In: Journal of neurology vol. 257 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	202.	Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing. [electronic resource] by Scoto, Mariacristina Cullup, Thomas Cirak, Sebahattin Yau, Shu Manzur, Adnan Y Feng, Lucy Jacques, Thomas S Anderson, Glenn Abbs, Stephen Sewry, Caroline Jungbluth, Heinz Muntoni, Francesco Producer: 20140507 In: European journal of human genetics : EJHG vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	203.	Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders. [electronic resource] by Nishikawa, Atsuko Mitsuhashi, Satomi Miyata, Naomasa Nishino, Ichizo Producer: 20171120 In: Journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	204.	Myotilinopathy in a family with late onset myopathy. [electronic resource] by Pénisson-Besnier, Isabelle Talvinen, Kati Dumez, Catherine Vihola, Anna Dubas, Frédéric Fardeau, Michel Hackman, Peter Carpen, Olli Udd, Bjarne Producer: 20061010 In: Neuromuscular disorders : NMD vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	205.	New phenotype and pathology features in MYH7-related distal myopathy. [electronic resource] by Tasca, Giorgio Ricci, Enzo Penttilä, Sini Monforte, Mauro Giglio, Vincenzo Ottaviani, Pierfrancesco Camastra, Giovanni Silvestri, Gabriella Udd, Bjarne Producer: 20121113 In: Neuromuscular disorders : NMD vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	206.	Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. [electronic resource] by Mahjneh, Ibrahim Bashir, Rumaisa Kiuru-Enari, Sari Linssen, Wim Lamminen, Antti Visser, Marianne de Producer: 20130227 In: Neuromuscular disorders : NMD vol. 22 Suppl 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	207.	Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. [electronic resource] by Chan, Yiumo Michael Lee, Paul Jungles, Steve Morris, Gabrielle Cadaoas, Jaclyn Skrinar, Alison Vellard, Michel Kakkis, Emil Producer: 20170825 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	208.	A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. [electronic resource] by Lochmüller, Hanns Behin, Anthony Caraco, Yoseph Lau, Heather Mirabella, Massimiliano Tournev, Ivailo Tarnopolsky, Mark Pogoryelova, Oksana Woods, Catherine Lai, Alexander Shah, Jinay Koutsoukos, Tony Skrinar, Alison Mansbach, Hank Kakkis, Emil Mozaffar, Tahseen Producer: 20191218 In: Neurology vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	209.	A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family. [electronic resource] by Lefter, Stela Hardiman, Orla McLaughlin, Russell L Murphy, Sinead M Farrell, Michael Ryan, Aisling M Producer: 20150910 In: Neuromuscular disorders : NMD vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	210.	Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy. [electronic resource] by Cho, Anna Christine, May Malicdan, V Miyakawa, Miho Nonaka, Ikuya Nishino, Ichizo Noguchi, Satoru Producer: 20180117 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	211.	Effects of pathogenic proline mutations on myosin assembly. [electronic resource] by Buvoli, Massimo Buvoli, Ada Leinwand, Leslie A Producer: 20120321 In: Journal of molecular biology vol. 415 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	212.	A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo. [electronic resource] by Parker, Francine Batchelor, Matthew Wolny, Marcin Hughes, Ruth Knight, Peter J Peckham, Michelle Producer: 20190513 In: Journal of molecular biology vol. 430 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	213.	Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy. [electronic resource] by Yardeni, Tal Jacobs, Katherine Niethamer, Terren K Ciccone, Carla Anikster, Yair Kurochkina, Natalya Gahl, William A Huizing, Marjan Producer: 20140129 In: Glycoconjugate journal vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	214.	Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). [electronic resource] by Garvey, Sean M Senderek, Jan Beckmann, Jacques S Seboun, Eric Jackson, Charles E Hauser, Michael A Producer: 20060619 In: Annals of human genetics vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	215.	Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. [electronic resource] by Jaiswal, Jyoti K Marlow, Gareth Summerill, Gillian Mahjneh, Ibrahim Mueller, Sebastian Hill, Maria Miyake, Katsuya Haase, Hannelore Anderson, Louise V B Richard, Isabelle Kiuru-Enari, Sari McNeil, Paul L Simon, Sanford M Bashir, Rumaisa Producer: 20070328 In: Traffic (Copenhagen, Denmark) vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	216.	Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. [electronic resource] by Chakravorty, Samya Berger, Kiera Arafat, Dalia Nallamilli, Babi Ramesh Reddy Subramanian, Hari Prasanna Joseph, Soumya Anderson, Mary E Campbell, Kevin P Glass, Jonathan Gibson, Greg Hegde, Madhuri Producer: 20191024 In: Muscle & nerve vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	217.	Distal myopathy in multi-minicore disease. [electronic resource] by Mitsuhashi, Satomi Nonaka, Ikuya Wu, Shiwen Moreno, Carlos Alberto Ibarra Shalaby, Sherine Hayashi, Yukiko K Noguchi, Satoru Nishino, Ichizo Producer: 20091229 In: Internal medicine (Tokyo, Japan) vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	218.	Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles). [electronic resource] by Mori-Yoshimura, Madoka Oya, Yasushi Hayashi, Yukiko K Noguchi, Satoru Nishino, Ichizo Murata, Miho Producer: 20130904 In: Neuromuscular disorders : NMD vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	219.	Lipid accumulation in dysferlin-deficient muscles. [electronic resource] by Grounds, Miranda D Terrill, Jessica R Radley-Crabb, Hannah G Robertson, Terry Papadimitriou, John Spuler, Simone Shavlakadze, Tea Producer: 20141230 In: The American journal of pathology vol. 184 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	220.	ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. [electronic resource] by Park, Hyung Jun Hong, Young Bin Choi, Young-Chul Lee, Jinho Kim, Eun Ja Lee, Ji-Su Mo, Won Min Ki, Soo Mi Kim, Hyo In Kim, Hye Jin Hyun, Young Se Hong, Hyun Dae Nam, Kisoo Jung, Sung Chul Kim, Sang-Beom Kim, Se Hoon Kim, Deok-Ho Oh, Ki-Wook Kim, Seung Hyun Yoo, Jeong Hyun Lee, Ji Eun Chung, Ki Wha Choi, Byung-Ok Producer: 20160617 In: Annals of neurology vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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