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Autosomal dominant diseases

Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis

Bernd Timmermann, Martin Kerick, Christina Roehr, Axel Fischer, Melanie Isau, Stefan T. Boerno, Andrea Wunderlich, Christian Barmeyer, Petra Seemann, Jana Koenig, Michael Lappe, Andreas W. Kuss, Masoud Garshasbi, Lars Bertram, Kathrin Trappe, Martin Werber, Bernhard G. Herrmann, Kurt Zatloukal, Hans Lehrach, Michal R. Schweiger

published 22 Dec 2010

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Glioblastoma Subclasses Can Be Defined by Activity among Signal Transduction Pathways and Associated Genomic Alterations

Cameron Brennan, Hiroyuki Momota, Dolores Hambardzumyan, Tatsuya Ozawa, Adesh Tandon, Alicia Pedraza, Eric Holland

published 13 Nov 2009

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Neurofibromatosis Type 1 and the “Elephant Man's” Disease: The Confusion Persists: An Ethnographic Study

Claire-Marie Legendre, Catherine Charpentier-Côté, Régen Drouin, Chantal Bouffard

published 09 Feb 2011

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A Locked Nucleic Acid Antisense Oligonucleotide (LNA) Silences PCSK9 and Enhances LDLR Expression In Vitro and In Vivo

Nidhi Gupta, Niels Fisker, Marie-Claude Asselin, Marie Lindholm, Christoph Rosenbohm, Henrik Ørum, Joacim Elmén, Nabil G. Seidah, Ellen Marie Straarup

published 17 May 2010

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Oxytocin and Vasopressin Are Dysregulated in Williams Syndrome, a Genetic Disorder Affecting Social Behavior

Li Dai, C. Sue Carter, Jian Ying, Ursula Bellugi, Hossein Pournajafi-Nazarloo, Julie R. Korenberg

published 12 Jun 2012

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The Ubiquitin-Proteasome Reporter GFPu Does Not Accumulate in Neurons of the R6/2 Transgenic Mouse Model of Huntington's Disease

John S. Bett, Casey Cook, Leonard Petrucelli, Gillian P. Bates

published 08 Apr 2009

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Utilization of Murine Colonoscopy for Orthotopic Implantation of Colorectal Cancer

Ehud Zigmond, Zamir Halpern, Eran Elinav, Eli Brazowski, Steffen Jung, Chen Varol

published 12 Dec 2011

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Proteasome Activator Enhances Survival of Huntington's Disease Neuronal Model Cells

Hyemyung Seo, Kai-Christian Sonntag, Woori Kim, Elena Cattaneo, Ole Isacson

published 28 Feb 2007

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RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression

Adam Labadorf, Andrew G. Hoss, Valentina Lagomarsino, Jeanne C. Latourelle, Tiffany C. Hadzi, Joli Bregu, Marcy E. MacDonald, James F. Gusella, Jiang-Fan Chen, Schahram Akbarian, Zhiping Weng, Richard H. Myers

published 04 Dec 2015

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A Novel Multiplex Cell Viability Assay for High-Throughput RNAi Screening

Daniel F. Gilbert, Gerrit Erdmann, Xian Zhang, Anja Fritzsche, Kubilay Demir, Andreas Jaedicke, Katja Muehlenberg, Erich E. Wanker, Michael Boutros

published 05 Dec 2011

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The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression

Céline Vanderplanck, Eugénie Ansseau, Sébastien Charron, Nadia Stricwant, Alexandra Tassin, Dalila Laoudj-Chenivesse, Steve D. Wilton, Frédérique Coppée, Alexandra Belayew

published 28 Oct 2011

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A Monoclonal Antibody TrkB Receptor Agonist as a Potential Therapeutic for Huntington’s Disease

Daniel Todd, Ian Gowers, Simon J. Dowler, Michael D. Wall, George McAllister, David F. Fischer, Sipke Dijkstra, Silvina A. Fratantoni, Rhea van de Bospoort, Jessica Veenman-Koepke, Geraldine Flynn, Jamshid Arjomand, Celia Dominguez, Ignacio Munoz-Sanjuan, John Wityak, Jonathan A. Bard

published 04 Feb 2014

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Brain-Derived Neurotrophic Factor in Patients with Huntington's Disease

Chiara Zuccato, Manuela Marullo, Barbara Vitali, Alessia Tarditi, Caterina Mariotti, Marta Valenza, Nayana Lahiri, Edward J. Wild, Jenny Sassone, Andrea Ciammola, Anne Catherine Bachoud-Lèvi, Sarah J. Tabrizi, Stefano Di Donato, Elena Cattaneo

published 12 Aug 2011

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