Issue 1/2017
Content (10 Articles)
Circular RNAs—one of the enigmas of the brain
Ivan B. Filippenkov, Eugene O. Kalinichenko, Svetlana A. Limborska, Lyudmila V. Dergunova
Epigenome-wide DNA methylation analysis in siblings and monozygotic twins discordant for sporadic Parkinson’s disease revealed different epigenetic patterns in peripheral blood mononuclear cells
Oliver Kaut, Ina Schmitt, Jörg Tost, Florence Busato, Yi Liu, Per Hofmann, Stephanie H. Witt, Marcella Rietschel, Holger Fröhlich, Ullrich Wüllner
Mosaicism in ATP1A3-related disorders: not just a theoretical risk
Marie Hully, Juliette Ropars, Laurence Hubert, Nathalie Boddaert, Marlene Rio, Mathieu Bernardelli, Isabelle Desguerre, Valerie Cormier-Daire, Arnold Munnich, Pascale de Lonlay, Louise Reilly, Claude Besmond, Nadia Bahi-Buisson
DRD2 C957T polymorphism is associated with improved 6-month verbal learning following traumatic brain injury
John K. Yue, Ethan A. Winkler, Jonathan W. Rick, John F. Burke, Thomas W. McAllister, Sam S. Oh, Esteban G. Burchard, Donglei Hu, Jonathan Rosand, Nancy R. Temkin, Frederick K. Korley, Marco D. Sorani, Adam R. Ferguson, Hester F. Lingsma, Sourabh Sharma, Caitlin K. Robinson, Esther L. Yuh, Phiroz E. Tarapore, Kevin K.W. Wang, Ava M. Puccio, Pratik Mukherjee, Ramon Diaz-Arrastia, Wayne A. Gordon, Alex B. Valadka, David O. Okonkwo, Geoffrey T. Manley
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia
Ana L. Kolicheski, Gary S. Johnson, Tendai Mhlanga-Mutangadura, Jeremy F. Taylor, Robert D. Schnabel, Taroh Kinoshita, Yoshiko Murakami, Dennis P. O’Brien
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child
Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D. Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy
Aviva Fattal-Valevski, Hila Eliyahu, NItai D. Fraenkel, Ganit Elmaliach, Moran Hausman-Kedem, Avraham Shaag, Dror Mandel, Ophry Pines, Orly Elpeleg
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement
Andreea Manole, Alejandro Horga, Josep Gamez, Nuria Raguer, Maria Salvado, Beatriz San Millán, Carmen Navarro, Alan Pittmann, Mary M. Reilly, Henry Houlden
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
Michelangelo Cao, Marta Donà, Maria Lucia Valentino, Claudio Semplicini, Alessandra Maresca, Matteo Cassina, Alessandra Torraco, Eva Galletta, Valeria Manfioli, Gianni Sorarù, Valerio Carelli, Roberto Stramare, Enrico Bertini, Rosalba Carrozzo, Leonardo Salviati, Elena Pegoraro
Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect
Maher Awni Shahrour, Claudia M. Nicolae, Simon Edvardson, Motee Ashhab, Adri M. Galvan, Daniel Constantin, Bassam Abu-Libdeh, George-Lucian Moldovan, Orly Elpeleg