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Human Molecular Genetics|January 25, 2013
Low p14ARF expression in neuroblastoma cells is associated with repressed histone mark status, and enforced expression induces growth arrest and apoptosisDaniel Dreidax, Sina Gogolin, Christina Schroeder, et al.Human Molecular Genetics|December 18, 2012
GTPase activity regulates kinase activity and cellular phenotypes of Parkinson's disease-associated LRRK2Alice Biosa, Alzbeta Trancikova, Laura Civiero, et al.Human Molecular Genetics|December 22, 2012
Identification of novel molecular markers through transcriptomic analysis in human fetal and adult corneal endothelial cellsYinyin Chen, Kevin Huang, Martin N Nakatsu, et al.Human Molecular Genetics|January 15, 2013
Genetic variation associated with circulating monocyte count in the eMERGE NetworkDavid R Crosslin, Andrew McDavid, Noah Weston, et al.Human Molecular Genetics|January 17, 2013
S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxineRiccardo Montioli, Elisa Oppici, Barbara Cellini, et al.Human Molecular Genetics|December 25, 2012
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionalityBastian Ackermann, Sandra Kröber, Laura Torres-Benito, et al.Human Molecular Genetics|March 31, 2012
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effectsMari Sepp, Priit Pruunsild, Tõnis TimmuskHuman Molecular Genetics|February 5, 2013
Susceptibility-associated genetic variation at IL12B enhances Th1 polarization in psoriasisAndrew Johnston, Xianying Xing, William R Swindell, et al.Human Molecular Genetics|March 2, 2013
PINK1 and Parkin complementarily protect dopaminergic neurons in vertebratesHideaki Matsui, Roberto Gavinio, Takeshi Asano, et al.Human Molecular Genetics|March 12, 2013
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granulesCaroline Vance, Emma L Scotter, Agnes L Nishimura, et al.Pageof 1,196