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10.1590/1678-4685-GMB-2016-0019 http://scihub22266oqcxt.onion/10.1590/1678-4685-GMB-2016-0019 C5004840!5004840!27575431     free     free     free Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Genet+Mol+Biol 2016 ; 39 (3): 339-48 Nephropedia Template TP {{tp|p=27575431|t=2016. Neuromuscular disorders: genes, genetic counseling and therapeutic trials |pdf=|usr=}}{{27575431}} gab.com Text Neuromuscular disorders: genes, genetic counseling and therapeutic trials JO: Genet Mol Biol http://www.kidney.de/pget.php?&tw=1&pmid=27575431 #FOAvip Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies have been incorporated since then. Next generation sequencing greatly improved our capacity to identify disease-causing mutations with important benefits for research and prevention through genetic counseling of patients' families. Stem cells researches, from and for patients, have been used as tools to study human genetic diseases mechanisms and for therapies development. The clinical effect of preclinical trials in mice and canine models for muscular dystrophies are under investigation. Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country. Twit Text FOAVip Neuromuscular disorders: genes, genetic counseling and therapeutic trials ????Genet Mol Biol http://www.kidney.de/pget.php?&tw=1&pmid=27575431 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27575431 #FOAvip English Wikipedia <ref>{{Cite pmid|27575431}}</ref> Neuromuscular disorders: genes, genetic counseling and therapeutic trials #MMPMID27575431 Zatz M; Passos-Bueno MR; Vainzof M Genet Mol Biol 2016[Jul]; 39 (3): 339-48 PMID27575431show ga Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies have been incorporated since then. Next generation sequencing greatly improved our capacity to identify disease-causing mutations with important benefits for research and prevention through genetic counseling of patients' families. Stem cells researches, from and for patients, have been used as tools to study human genetic diseases mechanisms and for therapies development. The clinical effect of preclinical trials in mice and canine models for muscular dystrophies are under investigation. Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country. äNeuromuscular disorders: genes, genetic counseling and therapeutic tri(epmc).pdf DeepDyve Pubget Overpricing