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neurogenetics

Ausgabe 3/2016

Inhalt (8 Artikel)

Review Article

Up-regulation of SNCA gene expression: implications to synucleinopathies

L. Tagliafierro, O. Chiba-Falek

Original Article

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

Original Article

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

Original Article

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

Original Article

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

Short Communication

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy

Ronen Spiegel, Avraham Shaag, Stavit Shalev, Orly Elpeleg

Short Communication

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

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