Results 141 to 150 of about 4,510 (163)

Emery-Dreifuss muscular dystrophy and other related disorders

British Medical Bulletin, 1989
There are some 30 or so different forms of muscular dystrophy which are conveniently classified according to the mode of inheritance. Emery-Dreifuss X-linked muscular dystrophy is characterized by the triad of: (1) early contractures of the elbows, Achilles tendons and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a ...
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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.
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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
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Emery–Dreifuss Muscular Dystrophy

2017
Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel   +2 more
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Emery-Dreifuss Muscular Dystrophy

2015
Hacer Durmus, Piraye Serdaroglu-Oflazer, Feza Deymeer   +2 more
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Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy

Muscle and Nerve, 2001
Stefano Squarzoni, Cristina Capanni, Luciano Merlini   +2 more
exaly  

Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes

Nucleus, 2018
Elisa Schena, Liliana Vercelli, Gabriele Siciliano   +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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A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy

Clinica Chimica Acta, 2020
Joonhong Park, Eunseok Choi, Sangjee Lee   +2 more
exaly