Ausgabe 4/2016
Inhalt (10 Artikel)
Transcriptional regulation of long-term potentiation
Nicola Bliim, Iryna Leshchyns’ka, Vladimir Sytnyk, Michael Janitz
Cortical gene expression: prognostic value for seizure outcome following temporal lobectomy and amygdalohippocampectomy
Matthew J. Gallek, Jesse Skoch, Tracy Ansay, Mandana Behbahani, David Mount, Ann Manziello, Marlys Witte, Michael Bernas, David M. Labiner, Martin E. Weinand
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay
Simon Edvardson, Yael Elbaz-Alon, Chaim Jalas, Ashanti Matlock, Krishna Patel, Katherine Labbé, Avraham Shaag, Jane E. Jackman, Orly Elpeleg
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
A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson’s disease
Valentina La Cognata, Giovanna Morello, Giulia Gentile, Velia D’Agata, Chiara Criscuolo, Francesca Cavalcanti, Sebastiano Cavallaro
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia
Tiago A. Mestre, Andreea Manole, Heather MacDonald, Sheila Riazi, Natalia Kraeva, Michael G. Hanna, Anthony E. Lang, Roope Männikkö, Grace Yoon
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A
Rony Cohen, Ayelet Halevy, Sharon Aharoni, Dror Kraus, Osnat Konen, Lina Basel-Vanagaite, Hadassa Goldberg–Stern, Rachel Straussberg
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
Elena Martín-Hernández, María Elena Rodríguez-García, Ana Camacho, Antoni Matilla-Dueñas, María Teresa García-Silva, Pilar Quijada-Fraile, Marc Corral-Juan, Pilar Tejada-Palacios, Rogelio Simón de Las Heras, Joaquín Arenas, Miguel A. Martín, Francisco Martínez-Azorín
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
Kishore R Kumar, G.M. Wali, Mahesh Kamate, Gautam Wali, André E Minoche, Clare Puttick, Mark Pinese, Velimir Gayevskiy, Marcel E Dinger, Tony Roscioli, Carolyn M. Sue, Mark J Cowley