Results 171 to 180 of about 2,422 (183)

Miyoshi Myopathy (MM, 2p13.3-p13.1)

2008
openaire   +1 more source

Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy

2009
Alexander K. C. Leung, William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, Katerina Tanya B. Perez-Gosiengfiao, Reyna M. Duron, Jesus Machado-Salas, Iris E. Martinez-Juarez, Ma. Rosa Avila, Angela Vincent, John Newsom-Davis*, Vinzenz Oji, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Zvi Laron, Walter Lisch, Andreas Janecke, Berthold Seitz, Birgit Lorenz, Markus N. Preising, Nosratola D. Vaziri, John F. MacGregor, Roger A. Freedman, Thomas Klopstock, Arndt Hartmann, Wolfgang Dietmaier, Markus Böhm, Thomas A. Luger, Gudrun Rappold, Andrea Kelly, Changhong Li, Françoise Vuillier, Amos Etzioni, Cord Sunderkötter, Nandhagopal Ramachandiran, Sandra Sirrs, Jan Ehrchen, Stefan Beissert, Fenella Wojnarowska, Gudula Kirtschig, Alexander K. C. Leung, William Lane M. Robson, Laurent Schild, Bernard C. Rossier, Wolfgang Dietmaier, Arndt Hartmann, Hubert Scharnagl, Winfried März, James M. Gilchrist, Rabah Ben Yaou, Gisèle Bonne, Benedikt G. H. Schoser, Flavia Paula, Mariz Vainzof, Maria Rita Passos-Bueno, Mayana Zatz, Tracey Weiler, Patrick Frosk, Kiaus Wrogemann, Cheryl R. Greenberg, Eloisa De Sá Moreira, Mariz Vainzof, Mayana Zatz, Maria Rita Passos-Bueno, Patrick Frosk, Tracey Weiler, Klaus Wrogemann, Cheryl R. Greenberg, Adel Driss, Silke Hofmann, Leena Bruckner‐Tuderman, Takahiro Hamada, John A. McGrath, August H. M. Smelt, Renzo Guerrini, Carla Marini, Elena Parrini, Cord Sunderkötter, Olav A. Gressner, Sören Siegmund, Stephan Haas, Manfred V. Singer, Matthias Wettstein, Olav A. Gressner, Olav A. Gressner, Dieter Häussinger, Massimo Pinzani, Wataru Shimizu, Charles Antzelevitch, Gérard Gacon, Olivier Dorseuil, Rémi Salomon, Joël Lunardi, Rade Tomic, Jesse Roman, Michelle A. Carey, Darryl C. Zeldin, Hideto Kameda, Jonathan Corren, Johannes C. Nossent, Alexander Olivares-Reyes, Tobias A. Rupprecht, Hans-Walter Pfister, Volker Fingerle, Rui-Cheng Ji, Chitra Suri, Marlys H. Witte, Lubomir Sokol, Jürgen Schölmerich, Martina Deckert, Reiner Siebert, Manuel Montesinos-Rongen, Cornelius Courts, Heinrich Schwindt, Anna Brunn, Werner Kempf, Reinhard Dummer, Günter Burg, Sylvain Latour, Karsten Schulmann, Christian Pox, Wolff Schmiegel, Laura M. Tanner   +126 more
openaire   +1 more source

Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect

Traffic, 2007
Jaiswal J; Jaiswal Jk, Gareth J Marlow, Sanford M Simon   +2 more
exaly  

Physical mapping of the Miyoshi myopathy/LGMD2B locus on chromosome 2p13

Neuromuscular Disorders, 1997
J. Liu, C.Y. Wu, K. Bossie, K. Bejaoui, B.A. Hosler, E. Schurr, P. de Jong, R.H. Brown   +7 more
openaire   +1 more source

Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma

Acta Neuropathologica, 2002
Masashi Aoki
exaly  

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Neuromuscular Disorders, 2000
Robert Pogue, Elizabeth Vafiadaki, Ibrahim Mahjneh   +2 more
exaly  

Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene

Journal of the Neurological Sciences, 2001
exaly  

G.P.6.04 Nitric oxide signaling in selective muscle wasting of Miyoshi myopathy

Neuromuscular Disorders, 2009
R. Dhanarajan, M. Alexander, A. Oommen
openaire   +1 more source

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy

European Journal of Neurology, 2004
exaly  

Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy

2012
openaire   +1 more source