Issue 3/2008
Content (10 Articles)
Heterogeneous dysregulation of microRNAs across the autism spectrum
Kawther Abu-Elneel, Tsunglin Liu, Francesca S. Gazzaniga, Yuhei Nishimura, Dennis P. Wall, Daniel H. Geschwind, Kaiqin Lao, Kenneth S. Kosik
Differential expression of alpha-synuclein, parkin, and synphilin-1 isoforms in Lewy body disease
Katrin Beyer, Montserrat Domingo-Sàbat, Jordi Humbert, Cristina Carrato, Isidro Ferrer, Aurelio Ariza
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis
L. Blázquez, M. Azpitarte, A. Sáenz, M. Goicoechea, D. Otaegui, X. Ferrer, I. Illa, E. Gutierrez-Rivas, J. J. Vilchez, A. López de Munain
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
Ofir T. Betsalel, Jiddeke M. van de Kamp, Cristina Martínez-Muñoz, Efraim H. Rosenberg, Arjan P. M. de Brouwer, Petra J. W. Pouwels, Marjo S. van der Knaap, Grazia M. S. Mancini, Cornelis Jakobs, Ben C. J. Hamel, Gajja S. Salomons
Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region
Megan Brewer, Febriani Changi, Anthony Antonellis, Kurt Fischbeck, Patsie Polly, Garth Nicholson, Marina Kennerson
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series
Barbara Borroni, Silvana Archetti, Antonella Alberici, Chiara Agosti, Massimo Gennarelli, Barbara Bigni, Cristian Bonvicini, Maria Ferrari, Giuseppe Bellelli, Daniela Galimberti, Elio Scarpini, Diego Di Lorenzo, Luigi Caimi, Carlo Caltagirone, Monica Di Luca, Alessandro Padovani
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia
Sascha Vermeer, Rowdy P. P. Meijer, Benjamin J. Pijl, Janneke Timmermans, Johannes R. M. Cruysberg, Maaike M. Bos, Helenius J. Schelhaas, Bart. P. C. van de Warrenburg, Nine V. A. M. Knoers, Hans Scheffer, Berry Kremer
A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes
Brent L. Fogel, Pari Young, Arthur R. Thompson, Susan Perlman
Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation
Joseph J. Higgins, Jin Hao, Barry E. Kosofsky, Anjali M. Rajadhyaksha
Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25
Lúcia Inês Macedo-Souza, Fernando Kok, Silvana Santos, Luciana Licinio, Karina Lezirovitz, Rafaella M. P. Nascimento, Clarissa Bueno, Marcília Martyn, Emília K. E. A. Leão, Mayana Zatz