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10.1186/s40673-017-0061-y http://scihub22266oqcxt.onion/10.1186/s40673-017-0061-y C5324265!5324265!28250961     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28250961&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 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 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Cerebellum+Ataxias 2017 ; 4 (ä): ä Nephropedia Template TP {{tp|p=28250961|t=2017. Systematic review of autosomal recessive ataxias and proposal for a classification |pdf=|usr=}}{{28250961}} gab.com Text Systematic review of autosomal recessive ataxias and proposal for a classification JO: Cerebellum Ataxias http://www.kidney.de/pget.php?&tw=1&pmid=28250961 #FOAvip Background: The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literature to examine all recessive ataxias in order to propose a new classification and properly circumscribe this field as new technologies are emerging for comprehensive targeted gene testing. Methods: We searched Pubmed and Embase to identify original articles on recessive forms of ataxia in humans for which a causative gene had been identified. Reference lists and public databases, including OMIM and GeneReviews, were also reviewed. We evaluated the clinical descriptions to determine if ataxia was a core feature of the phenotype and assessed the available evidence on the genotype-phenotype association. Included disorders were classified as primary recessive ataxias, as other complex movement or multisystem disorders with prominent ataxia, or as disorders that may occasionally present with ataxia. Results: After removal of duplicates, 2354 references were reviewed and assessed for inclusion. A total of 130 articles were completely reviewed and included in this qualitative analysis. The proposed new list of autosomal recessive ataxias includes 45 gene-defined disorders for which ataxia is a core presenting feature. We propose a clinical algorithm based on the associated symptoms. Conclusion: We present a new classification for autosomal recessive ataxias that brings awareness to their complex phenotypes while providing a unified categorization of this group of disorders. This review should assist in the development of a consensus nomenclature useful in both clinical and research applications. Electronic supplementary material: The online version of this article (doi:10.1186/s40673-017-0061-y) contains supplementary material, which is available to authorized users. Twit Text FOAVip Systematic review of autosomal recessive ataxias and proposal for a classification ????Cerebellum Ataxias http://www.kidney.de/pget.php?&tw=1&pmid=28250961 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28250961 #FOAvip English Wikipedia <ref>{{Cite pmid|28250961}}</ref> Systematic review of autosomal recessive ataxias and proposal for a classification #MMPMID28250961 Beaudin M; Klein CJ; Rouleau GA; Dupré N Cerebellum Ataxias 2017[]; 4 (ä): ä PMID28250961show ga Background: The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literature to examine all recessive ataxias in order to propose a new classification and properly circumscribe this field as new technologies are emerging for comprehensive targeted gene testing. Methods: We searched Pubmed and Embase to identify original articles on recessive forms of ataxia in humans for which a causative gene had been identified. Reference lists and public databases, including OMIM and GeneReviews, were also reviewed. We evaluated the clinical descriptions to determine if ataxia was a core feature of the phenotype and assessed the available evidence on the genotype-phenotype association. Included disorders were classified as primary recessive ataxias, as other complex movement or multisystem disorders with prominent ataxia, or as disorders that may occasionally present with ataxia. Results: After removal of duplicates, 2354 references were reviewed and assessed for inclusion. A total of 130 articles were completely reviewed and included in this qualitative analysis. The proposed new list of autosomal recessive ataxias includes 45 gene-defined disorders for which ataxia is a core presenting feature. We propose a clinical algorithm based on the associated symptoms. Conclusion: We present a new classification for autosomal recessive ataxias that brings awareness to their complex phenotypes while providing a unified categorization of this group of disorders. This review should assist in the development of a consensus nomenclature useful in both clinical and research applications. Electronic supplementary material: The online version of this article (doi:10.1186/s40673-017-0061-y) contains supplementary material, which is available to authorized users. äSystematic review of autosomal recessive ataxias and proposal for a cl(epmc).pdf DeepDyve Pubget Overpricing