Results 91 to 100 of about 6,801 (167)

Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery–Dreifuss Muscular Dystrophy

American Journal of Perinatology Reports, 2016
Introduction Autosomal dominant Emery–Dreifuss muscular dystrophy (AD-EDMD) is rare compared with other forms of muscular dystrophy and is characterized by cardiac conduction defects.
Megumi Sato, Hiromitsu Shirasawa, Kenichi Makino, Hiroshi Miura, Wataru Sato, Dai Shimizu, Naoki Sato, Jin Kumagai, Akira Sato, Yukihiro Terada   +9 more
doaj   +1 more source

Manifestações Cardíacas nas Doenças Neuromusculares [PDF]

, 2010
RESUMO As distrofi as musculares são um grupo heterogéneo de doenças que se associam a alterações cardíacas (cardiomiopatia, arritmias), que podem ser determinantes no prognóstico destes doentes.
Álvares, S.
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Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies [PDF]

, 2019
Ankrd2 (ankyrin repeats containing domain 2) or Arpp (ankyrin repeat, PEST sequence, and proline-rich region) is a member of the muscle ankyrin repeat protein family. Ankrd2 is mostly expressed in skeletal muscle, where it plays an intriguing role in the
Capanni, Cristina, Cenni, Vittoria, Faulkner, Georgine, Kojić, Snežana, Lattanzi, Giovanna   +4 more
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Molecular genetics of cardiomyopathy: changing times, shifting paradigms [PDF]

, 2003
The original publication is available at http://www.cvja.co.za/Includes bibliographyCongestive heart failure is a major problem in developed and developing countries alike.
Brink, Paul A., Corfield, Valerie A., Mayosi, Bongani M., Moolman-Smook, Johanna C.   +3 more
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The empowerment of translational research: lessons from laminopathies

Orphanet Journal of Rare Diseases, 2012
The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009.
Benedetti Sara, Bernasconi Pia, Bertini Enrico, Biagini Elena, Boriani Giuseppe, Capanni Cristina, Carboni Nicola, Cenacchi Giovanna, Columbaro Marta, D'Adamo Monica, D’Amico Adele, D’Apice Maria, Fontana Marianna, Gambineri Alessandra, Lattanzi Giovanna, Liguori Rocco, Maraldi Nadir M, Mazzanti Laura, Mercuri Eugenio, Mongini Tiziana, Morandi Lucia O, Neri Iria, Nigro Giovanni, Novelli Giuseppe, Ortolani Michela, Pasquali Renato, Pini Antonella, Petrini Stefania, Politano Luisa, Previtali Stefano, Pucci Lisa, Rapezzi Claudio, Ricci Giulia, Rodolico Carmelo, Sbraccia Paolo, Scarano Emanuela, Siciliano Gabriele, Squarzoni Stefano, Toscano Antonio, Vercelli Liliana, Ziacchi Matteo   +40 more
doaj   +1 more source

Nuclear envelope laminopathies: evidence for developmentally inappropriate chromatin-nuclear envelope interactions [PDF]

, 2013
During terminal differentiation of cells, there is typically a transition of the nuclear envelope from the Lamin B protein to Lamin A/C proteins.
Eric Hoffman, Jelena Perovanovic, Jyoti Jaswal, Nikola Markovic   +3 more
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Report of 3 Cases of Emery-Dreifuss Muscular Dystrophy in a Family

پزشکی بالینی ابن سینا, 2004
Emery-Dreifuss muscular dystrophy (EDMD)can be seen in the middle childhood and the genetic patterns of them are X-linked recessive, autosomal dominant or recessive.
Parviz Yazdanpanah, Abdolrasool Javan, Behdad Nadimi, Mehrdad Rezaei, Behrouz Yazdanpanah, Hamdollah Delaviz   +5 more
doaj  

Loss-of-function genetic diseases and the concept of pharmaceutical targets [PDF]

, 2007
The biomedical world relies heavily on the definition of pharmaceutical targets as an essential step in the drug design process. It is therefore tempting to apply this model to genetic diseases as well.
Laurent Ségalat, MA Lindsay, RR Brinkman, F Sams-Dood, F Sams-Dood, M Ceccarelli, V Dubowitz, TA Rando, G Meister, C Eggert, P Rustin   +10 more
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LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society
Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
doaj   +1 more source

In Vitro Contracture Test Results and Anaesthetic Management of a Patient with Emery-Dreifuss Muscular Dystrophy for Cardiac Transplantation

Case Reports in Anesthesiology, 2012
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary neuromuscular disorder characterized by slowly progressive muscle weakness, early contractures, and dilated cardiomyopathy.
Frank Schuster, Carsten Wessig, Christoph Schimmer, Stephan Johannsen, Marc Lazarus, Ivan Aleksic, Rainer Leyh, Norbert Roewer   +7 more
doaj   +1 more source