Genetic diagnosis prevention and molecular pathophysiology of duchenne muscular dystrophy and non invasive diagnosis of familial neuromuscular disorders

Ludmila Kousoulidou, Carolina Sismani, Philippos C. Patsalis, Multiplex Amplifiable Probe Hybridization (MAPH) methodology as an alternative to comparative genomic hybridization (CGH) Methods of Molecular Biology. ,vol. 653, pp. 47- 71 ,(2010) , 10.1007/978-1-60761-759-4_4

G. Joost Jöbsis, H. Keizers, Jeroen P. Vreijling, Marianne de Visser, Marcy C. Speer, Ruud A. Wolterman, Frank Baas, Pieter A. Bolhuis, Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures Nature Genetics. ,vol. 14, pp. 113- 115 ,(1996) , 10.1038/NG0996-113

Pramod Gautam, Pankaj Jha, Dhirendra Kumar, Shivani Tyagi, Binuja Varma, Debasis Dash, Arijit Mukhopadhyay, Indian Genome Variation Consortium, Mitali Mukerji, None, Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity Human Genetics. ,vol. 131, pp. 131- 143 ,(2012) , 10.1007/S00439-011-1050-5

ALAN E. H. EMERY, Muscle histology and creatine kinase levels in the foetus in Duchenne muscular dystrophy Nature. ,vol. 266, pp. 472- 473 ,(1977) , 10.1038/266472A0

Daniel R. Carrasco, Giovanni Tonon, Yongsheng Huang, Yunyu Zhang, Raktim Sinha, Bin Feng, James P. Stewart, Fenghuang Zhan, Deepak Khatry, Marina Protopopova, Alexei Protopopov, Kumar Sukhdeo, Ichiro Hanamura, Owen Stephens, Bart Barlogie, Kenneth C. Anderson, Lynda Chin, John D. Shaughnessy, Cameron Brennan, Ronald A. DePinho, High-resolution genomic profiles define distinct clinico-pathogenetic subgroups of multiple myeloma patients. Cancer Cell. ,vol. 9, pp. 313- 325 ,(2006) , 10.1016/J.CCR.2006.03.019

David S. Greenberg, Yoshihide Sunada, Kevin P. Campbell, David Yaffe, Uri Nudel, Exogenous Dp71 restores the levels of dystrophin associated proteins but does not alleviate muscle damage in mdx mice Nature Genetics. ,vol. 8, pp. 340- 344 ,(1994) , 10.1038/NG1294-340

Peter Hackman, Anna Vihola, Henna Haravuori, Sylvie Marchand, Jaakko Sarparanta, Jerome de Seze, Siegfried Labeit, Christian Witt, Leena Peltonen, Isabelle Richard, Bjarne Udd, Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin American Journal of Human Genetics. ,vol. 71, pp. 492- 500 ,(2002) , 10.1086/342380

Inna N. Rybakova, James M. Ervasti, Dystrophin-Glycoprotein Complex Is Monomeric and Stabilizes Actin Filamentsin Vitrothrough a Lateral Association Journal of Biological Chemistry. ,vol. 272, pp. 28771- 28778 ,(1997) , 10.1074/JBC.272.45.28771

J.G. Seidman, Francesco Muntoni, Gerry Müehle, Wendy Johnson, Barbara McDonough, Christine E. Seidman, Diane Fatkin, Calum MacRae, Takeshi Sasaki, Matthew R. Wolff, Maurizio Porcu, Michael Frenneaux, John Atherton, Humberto J. Vidaillet, Serena Spudich, Umberto De Girolami, Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. The New England Journal of Medicine. ,vol. 341, pp. 1715- 1724 ,(1999) , 10.1056/NEJM199912023412302

Yukiko K. Hayashi, Fan-Li Chou, Eva Engvall, Megumu Ogawa, Chie Matsuda, Shinichi Hirabayashi, Kenji Yokochi, Barry L. Ziober, Randall H. Kramer, Stephen J. Kaufman, Eijiro Ozawa, Yu-ichi Goto, Ikuya Nonaka, Toshifumi Tsukahara, Jian-zhou Wang, Eric P. Hoffman, Kiichi Arahata, Mutations in the integrin alpha7 gene cause congenital myopathy. Nature Genetics. ,vol. 19, pp. 94- 97 ,(1998) , 10.1038/NG0598-94