Issue 3/2016
Content (8 Articles)
Up-regulation of SNCA gene expression: implications to synucleinopathies
L. Tagliafierro, O. Chiba-Falek
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features
Hallie Steinfeld, Megan T. Cho, Kyle Retterer, Rick Person, G. Bradley Schaefer, Noelle Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G. Wheeler, Koen L.I. van Gassen, P.A. Terhal, Virginie J.M. Verhoeven, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Lindsay B. Henderson, Wendy K. Chung
microRNA profiling: increased expression of miR-147a and miR-518e in progressive supranuclear palsy (PSP)
Roman Tatura, Malte Buchholz, Dennis W. Dickson, John van Swieten, Catriona McLean, Günter Höglinger, Ulrich Müller
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects
David B. Beck, Megan T. Cho, Francisca Millan, Carin Yates, Mark Hannibal, Bridget O’Connor, Marwan Shinawi, Anne M. Connolly, Darrel Waggoner, Sara Halbach, Brad Angle, Victoria Sanders, Yufeng Shen, Kyle Retterer, Amber Begtrup, Renkui Bai, Wendy K. Chung
Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1
Fedor A. Platonov, Kathrin Tyryshkin, Dmitriy G. Tikhonov, Tatyana S. Neustroyeva, Tatyana M. Sivtseva, Natalya V. Yakovleva, Valerian P. Nikolaev, Oksana G. Sidorova, Sardana K. Kononova, Lev G. Goldfarb, Neil M. Renwick
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy
Ronen Spiegel, Avraham Shaag, Stavit Shalev, Orly Elpeleg
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation
Alessia Micalizzi, Isabella Moroni, Monia Ginevrino, Tommaso Biagini, Tommaso Mazza, Marta Romani, Enza Maria Valente
Alzheimer’s disease risk genes in wild-type adult zebrafish exhibit gender-specific expression changes during aging
Jinyoung Lee, Samuel M. Peterson, Jennifer L. Freeman