Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1093/brain/awx045 http://scihub22266oqcxt.onion/10.1093/brain/awx045 C5405235!5405235 !28334938     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\28334938 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Brain 2017 ; 140 (5 ): 1204-1211 Nephropedia Template TP {{tp|p=28334938 |t=2017. Clinical and genetic characterization of leukoencephalopathies in adults |pdf=|usr=}}{{28334938 }} gab.com Text Clinical and genetic characterization of leukoencephalopathies in adults JO: Brain http://www.kidney.de/pget.php?&tw=1&pmid=28334938 #FOAvip Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all. In this study, we used focused and whole exome sequencing to evaluate a cohort of undiagnosed adult patients referred to a specialist leukoencephalopathy service. In total, 100 patients were evaluated using focused exome sequencing of 6100 genes. We detected pathogenic or likely pathogenic variants in 26 cases. The most frequently mutated genes were NOTCH3, EIF2B5, AARS2 and CSF1R. We then carried out whole exome sequencing on the remaining negative cases including four family trios, but could not identify any further potentially disease-causing mutations, confirming the equivalence of focused and whole exome sequencing in the diagnosis of genetic leukoencephalopathies. Here we provide an overview of the clinical and genetic features of these disorders in adults. Twit Text FOAVip Clinical and genetic characterization of leukoencephalopathies in adults ????Brain http://www.kidney.de/pget.php?&tw=1&pmid=28334938 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28334938 #FOAvip English Wikipedia <ref>{{Cite pmid|28334938 }}</ref> Clinical and genetic characterization of leukoencephalopathies in adults #MMPMID28334938 Lynch DS ; Rodrigues Brandão de Paiva A ; Zhang WJ ; Bugiardini E ; Freua F ; Tavares Lucato L ; Macedo-Souza LI ; Lakshmanan R ; Kinsella JA ; Merwick A ; Rossor AM ; Bajaj N ; Herron B ; McMonagle P ; Morrison PJ ; Hughes D ; Pittman A ; Laurà M ; Reilly MM ; Warren JD ; Mummery CJ ; Schott JM ; Adams M ; Fox NC ; Murphy E ; Davagnanam I ; Kok F ; Chataway J ; Houlden H Brain 2017[May]; 140 (5 ): 1204-1211 PMID28334938 show ga Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all. In this study, we used focused and whole exome sequencing to evaluate a cohort of undiagnosed adult patients referred to a specialist leukoencephalopathy service. In total, 100 patients were evaluated using focused exome sequencing of 6100 genes. We detected pathogenic or likely pathogenic variants in 26 cases. The most frequently mutated genes were NOTCH3, EIF2B5, AARS2 and CSF1R. We then carried out whole exome sequencing on the remaining negative cases including four family trios, but could not identify any further potentially disease-causing mutations, confirming the equivalence of focused and whole exome sequencing in the diagnosis of genetic leukoencephalopathies. Here we provide an overview of the clinical and genetic features of these disorders in adults. |Adolescent [MESH] |Adult [MESH] |Exome/*genetics [MESH] |Female [MESH] |Genetic Predisposition to Disease/*genetics [MESH] |Humans [MESH] |Leukoencephalopathies/*diagnosis/*genetics [MESH] |Male [MESH] |Mutation [MESH] |Sequence Analysis, DNA [MESH]Clinical and genetic characterization of leukoencephalopathies in adul(epmc).pdf DeepDyve Pubget Overpricing