Results 151 to 160 of about 283,904 (171)

Emery-Dreifuss muscular dystrophy.

Genetic counseling (Geneva, Switzerland), 2004
The muscular dystrophies are a group of disorders, genetically determined, with progressive degeneration of muscle(s), without central nervous nor peripheral nerve abnormalities. The Emery-Dreifuss muscular dystrophy is one of these. We report a case with typical features.
openaire   +1 more source

The role of the nuclear envelope in Emery–Dreifuss muscular dystrophy

Trends in Molecular Medicine, 2001
The X-linked form of Emery-Dreifuss muscular dystrophy (X-EDMD) is caused by absence, or greatly reduced amounts, of the inner nuclear-membrane protein, emerin. The autosomal dominant form (AD-EDMD) is caused by missense mutations in lamins A and C, two components of the nuclear lamina that interact directly with emerin.
openaire   +2 more sources

Emery-Dreifuss muscular dystrophy

Journal of the Neurological Sciences, 1987
Hideo Hara, Hitoshi Nagara, Shiro Mawatari, Akira Kondo, Hiroshi Sato   +4 more
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Emery-Dreifuss Muscular Dystrophies

2023
openaire   +1 more source

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy

Cells, 2020
Anne T Bertrand, Rabah Ben Yaou, Gisele Bonne   +2 more
exaly  

Emery–Dreifuss Muscular Dystrophy

2017
Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel   +2 more
openaire   +1 more source

Emery-Dreifuss Muscular Dystrophy

2015
Hacer Durmus, Piraye Serdaroglu-Oflazer, Feza Deymeer   +2 more
openaire   +1 more source

Lamin A/C–mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy

Journal of Cell Biology, 2009
Gisele Bonne, Colin L Stewart, Alexandre Méjat   +2 more
exaly  

Emery-Dreifuss Muscular Dystrophy

2009
Kei Inai, Alexander K. C. Leung, Jouni Uitto, Gerhard-Paul Diller, Michael A. Gatzoulis, John-John B. Schnog, Victor E. A. Gerdes, M. Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Christian A. Koch, Angela Vincent, Ravi Bhargava, Norma Leonard, Siobhan D. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Dirk Westermann, Carsten Tschöpe, Timothy Watson, Gregory Y. H. Lip, Klaus Pfeffer, Colin R. MacKenzie, Walter Däubener, Alexander K. C. Leung, Reginald S. Sauve, Andrew L. Wong, Leonard O’Sullivan, Stefan Beissert, Silke Hofmann, Leena Bruckner-Tuderman, Silke Hofmann, Leena Bruckner-Tuderman, Rolf Schröder, Iris Unterberger, Rüdiger Köhling, Holger Lerche, Fabienne Picard, Andreas Hahn, Bernd A. Neubauer, Holger Lerche, Carla Marini, Renzo Guerrini, Frederico Zara, Fernando Cendes, Iscia Lopes-Cendes, Heinz Beck, Holger Lerche, Christian Elger, Tracey D. Graves, Michael G. Hanna, Werner J. Heppt, Rainer Weber, Walter Lisch, Andreas Janecke, Berthold Seitz, Cord Sunderkötter, Mosaad Megahed, Akmal Hassan, Alexander K. C. Leung, Sonja Ständer, Heiko Traupe, William Jeffcoate, Marcus Schmitt, Thomas Frieling, Marcus Schmitt, Nirmal S. Mann, Michaela Luconi, Vincenzo Rochira, Rossana Mineri, Valeria Tiranti, Seda Sancak, Ralf Paschke, Eric A. Sobie, Hena R. Ramay   +74 more
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Cardiac and muscle imaging findings in a family with X-linked Emery–Dreifuss muscular dystrophy

Neuromuscular Disorders, 2012
Eleonora Cocco, Eugenio Mercuri
exaly