Ausgabe 4/2014
Neurogenetic Disease: Genes, Mechanisms and Future Promise
Inhalt (15 Artikel)
Next Generation Sequencing and the Future of Genetic Diagnosis
Katja Lohmann, Christine Klein
Epigenetic Mechanisms Underlying the Pathogenesis of Neurogenetic Diseases
Irfan A. Qureshi, Mark F. Mehler
Repeat-Associated Non-AUG Translation and Its Impact in Neurodegenerative Disease
Michael G. Kearse, Peter K. Todd
Heterogeneity of Leucine-Rich Repeat Kinase 2 Mutations: Genetics, Mechanisms and Therapeutic Implications
Iakov N. Rudenko, Mark R. Cookson
The Role for Alterations in Neuronal Activity in the Pathogenesis of Polyglutamine Repeat Disorders
Ravi Chopra, Vikram G. Shakkottai
The Nuclear Envelope: An Intriguing Focal Point for Neurogenetic Disease
Howard J. Worman, William T. Dauer
Triadopathies: An Emerging Class of Skeletal Muscle Diseases
James J. Dowling, Michael W. Lawlor, Robert T. Dirksen
Spinal Muscular Atrophy: Journeying From Bench to Bedside
Tomoyuki Awano, Jeong-Ki Kim, Umrao R. Monani
Gene Therapy for the Nervous System: Challenges and New Strategies
Casey A. Maguire, Servio H. Ramirez, Steven F. Merkel, Miguel Sena-Esteves, Xandra O. Breakefield
A GCase Chaperone Improves Motor Function in a Mouse Model of Synucleinopathy
Franziska Richter, Sheila M. Fleming, Melanie Watson, Vincent Lemesre, Lee Pellegrino, Brian Ranes, Chunni Zhu, Farzad Mortazavi, Caitlin K. Mulligan, Pedrom C. Sioshansi, Sindalana Hean, Krystal De La Rosa, Richie Khanna, John Flanagan, David J. Lockhart, Brandon A. Wustman, Sean W. Clark, Marie-Françoise Chesselet
Novel mGluR5 Positive Allosteric Modulator Improves Functional Recovery, Attenuates Neurodegeneration, and Alters Microglial Polarization after Experimental Traumatic Brain Injury
David J. Loane, Bogdan A. Stoica, Flaubert Tchantchou, Alok Kumar, James P. Barrett, Titilola Akintola, Fengtian Xue, P. Jeffrey Conn, Alan I. Faden