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10.1111/j.1468-1331.2012.03883.x http://scihub22266oqcxt.onion/10.1111/j.1468-1331.2012.03883.x C4669564!4669564!23043354     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Eur+J+Neurol 2013 ; 20 (3): 486-92 Nephropedia Template TP {{tp|p=23043354|t=2013. Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders |pdf=|usr=}}{{23043354}} gab.com Text Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders JO: Eur J Neurol http://www.kidney.de/pget.php?&tw=1&pmid=23043354 #FOAvip Background: Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied 3 families diagnosed with ARCA. Methods: To determine the gene lesions responsible for their disorders, we performed high density SNP genotyping and exome sequencing. Results: We identified a new mutation in the SACS gene and a known mutation in SPG11. Notably we also identified a homozygous variant in APOB, a gene previously associated with ataxia. Conclusions: These findings demonstrate that exome sequencing is an efficient and direct diagnostic tool for identifying the causes of complex and genetically heterogeneous neurodegenerative diseases, early stage disease or cases with limited clinical data. Twit Text FOAVip Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders ????Eur J Neurol http://www.kidney.de/pget.php?&tw=1&pmid=23043354 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23043354 #FOAvip English Wikipedia <ref>{{Cite pmid|23043354}}</ref> Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders #MMPMID23043354 Hammer MB; Eleuch-Fayache G; Gibbs JR; Arepalli SK; Chong SB; Sassi C; Bouhlal Y; Hentati F; Amouri R; Singleton AB Eur J Neurol 2013[Mar]; 20 (3): 486-92 PMID23043354show ga Background: Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied 3 families diagnosed with ARCA. Methods: To determine the gene lesions responsible for their disorders, we performed high density SNP genotyping and exome sequencing. Results: We identified a new mutation in the SACS gene and a known mutation in SPG11. Notably we also identified a homozygous variant in APOB, a gene previously associated with ataxia. Conclusions: These findings demonstrate that exome sequencing is an efficient and direct diagnostic tool for identifying the causes of complex and genetically heterogeneous neurodegenerative diseases, early stage disease or cases with limited clinical data. äExome sequencing: an efficient diagnostic tool for complex neurodegene(epmc).pdf DeepDyve Pubget Overpricing