|1.||Talbot, Kevin: 3 articles (05/2014 - 06/2007)|
|2.||Burgess, Robert W: 3 articles (05/2014 - 09/2006)|
|3.||Yang, Xiang-Lei: 3 articles (03/2012 - 06/2007)|
|4.||Schimmel, Paul: 3 articles (03/2012 - 09/2006)|
|5.||Seo, Ah Jung: 2 articles (11/2014 - 08/2014)|
|6.||Park, Byung Sun: 2 articles (11/2014 - 08/2014)|
|7.||Guo, Min: 2 articles (03/2012 - 07/2011)|
|8.||He, Weiwei: 2 articles (03/2012 - 07/2011)|
|9.||Goldfarb, Lev G: 2 articles (01/2010 - 05/2003)|
|10.||Greensmith, Linda: 2 articles (07/2009 - 01/2009)|
|1.||Spinal Muscular Atrophy (Progressive Muscular Atrophy)
11/01/2014 - "Distal spinal muscular atrophy type V (dSMA-V), a hereditary axonal neuropathy, is a glycyl-tRNA synthetase (GRS)-associated neuropathy caused by a mutation in GRS. "
01/01/2014 - "Comprehensive analysis of known CMT-related genes revealed a novel heterozygous c.815T>A, p.L218Q mutation in glycyl-tRNA synthetase (GARS), a causative gene for both CMT type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V). "
07/01/2009 - "Mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system in humans, described clinically as Charcot-Marie-Tooth type 2D or distal spinal muscular atrophy type V. Here, we characterise a new mouse mutant, Gars(C201R), with a point mutation that leads to a non-conservative substitution within GARS. "
01/01/2009 - "In humans, mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system, and clinical phenotypes ranging from Charcot-Marie-Tooth neuropathy to a severe infantile form of spinal muscular atrophy. "
06/26/2007 - "Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy."
|2.||Peripheral Nervous System Diseases (PNS Diseases)
07/26/2011 - "Here we focus on mutations in glycyl-tRNA synthetase (GlyRS) that cause an axonal form of Charcot-Marie-Tooth (CMT) diseases, the most common hereditary peripheral neuropathies. "
07/01/2009 - "An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy."
09/21/2006 - "Of the many inherited Charcot-Marie-Tooth peripheral neuropathies, type 2D (CMT2D) is caused by dominant point mutations in the gene GARS, encoding glycyl tRNA synthetase (GlyRS). "
08/01/2014 - "Neuropathic pain model of peripheral neuropathies mediated by mutations of glycyl-tRNA synthetase."
|3.||Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy)
05/01/2009 - "Hypothesizing that this familial amyotrophy might be related to autosomal dominant distal spinal muscular atrophy type V(dSMA-V) that is characterized by prominent involvement of the distal upper extremities, we tested the index case for glycyl tRNA synthetase and Berardinelli-Seip congenital lipodystrophy (BSCL2) N88S and S90L gene mutations (by direct sequencing) that are involved in the development of dSMA-V phenotype. "
12/15/2007 - "Distal hereditary motor neuropathy type V (dHMN-V) and Charcot-Marie-Tooth syndrome (CMT) type 2 presenting with predominant hand involvement, also known as CMT2D and Silver syndrome (SS) are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and in the glycyl-tRNA synthetase encoding (GARS) genes. "
05/01/2008 - "Since 2001, mutations in six different genes have been identified for autosomal dominant distal HMN; glycyl-tRNA synthetase (GARS), dynactin 1 (DCTN1), small heat shock 27 kDa protein 1 (HSPB1), small heat shock 22 kDa protein 8 (HSPB8), Berardinelli-Seip congenital lipodystrophy (BSCL2) and senataxin (SETX). "
|4.||Interstitial Lung Diseases (Interstitial Lung Disease)
03/01/2014 - "Anti-glycyl tRNA synthetase antibody associated interstitial lung disease without symptoms of polymyositis/dermatomyositis."
04/20/2014 - "Establishment of an ELISA to detect anti-glycyl-tRNA synthetase antibody (anti-EJ), a serological marker of dermatomyositis/polymyositis and interstitial lung disease."
04/01/1996 - "We report here autoantibodies to glycyl tRNA synthetase in a patient with systemic lupus erythematosus and interstitial lung disease. "
|5.||Myositis (Idiopathic Inflammatory Myopathies)
08/01/2014 - "Pulmonary pathologic manifestations of anti-glycyl-tRNA synthetase (anti-EJ)-related inflammatory myopathy."
11/18/1994 - "Primary structure and functional expression of human Glycyl-tRNA synthetase, an autoantigen in myositis."
04/20/2014 - "Although anti-glycyl-tRNA synthetase antibodies (anti-EJ) are mainly found in patients with inflammatory myopathy, information on their clinical significances is limited, partly due to a lack of commercially available tests. "
|2.||Type 2D Charcot-Marie-Tooth disease
|3.||Class 2 Receptor-Like Protein Tyrosine Phosphatases
|4.||Fas Ligand Protein (Fas Ligand)
|5.||Hypoxia-Inducible Factor 1
|6.||Aryl Hydrocarbon Receptors (Aryl Hydrocarbon Receptor)
|7.||Gly Transfer RNA
|8.||Glycosylated Hemoglobin A (Glycosylated Hemoglobin)
|9.||Glycine (Aminoacetic Acid)