Issue 3/2012
Content (12 Articles)
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly
Ayse Guven, Aysegul Gunduz, Tarik M. Bozoglu, Cengiz Yalcinkaya, Aslıhan Tolun
TRPV4 mutations in children with congenital distal spinal muscular atrophy
Chiara Fiorillo, Francesca Moro, Giacomo Brisca, Guja Astrea, Claudia Nesti, Zoltán Bálint, Andrea Olschewski, Maria Chiara Meschini, Christian Guelly, Michaela Auer-Grumbach, Roberta Battini, Marina Pedemonte, Alessandro Romano, Valeria Menchise, Roberta Biancheri, Filippo M. Santorelli, Claudio Bruno
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide
Cecilia Mancini, Giovanna Vaula, Laura Scalzitti, Simona Cavalieri, Enrico Bertini, Chiara Aiello, Cinzia Lucchini, Richard A. Gatti, Alessandro Brussino, Alfredo Brusco
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes
Claudia Dufke, Nina Schlipf, Rebecca Schüle, Michael Bonin, Michaela Auer-Grumbach, Giovanni Stevanin, Christel Depienne, Jan Kassubek, Stephan Klebe, Sven Klimpe, Thomas Klopstock, Susanne Otto, Sven Poths, Andrea Seibel, Henning Stolze, Andreas Gal, Ludger Schöls, Peter Bauer
Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions
Hildegard Kehrer-Sawatzki, Julia Vogt, Tanja Mußotter, Lan Kluwe, David N. Cooper, Victor-Felix Mautner
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type
Makiko Taira, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Toshihiro Hayashi, Jun Shimizu, Takashi Matsukawa, Naoko Saito, Kazumasa Okada, Sadatoshi Tsuji, Hiromasa Sawamura, Shiro Amano, Jun Goto, Shoji Tsuji
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset
María del Mar O’Callaghan, Sonia Emperador, Ester López-Gallardo, Cristina Jou, Nuria Buján, Raquel Montero, Àngels Garcia-Cazorla, Diana Gonzaga, Isidre Ferrer, Paz Briones, Eduardo Ruiz-Pesini, Mercè Pineda, Rafael Artuch, Julio Montoya
A novel binding protein of single-minded 2: the mitotic arrest-deficient protein MAD2B
Xianfang Meng, Xiujuan Tian, Xiaolan Wang, Pan Gao, Chun Zhang
A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility
Hannah C. Cox, Rod A. Lea, Claire Bellis, Melanie Carless, Thomas D. Dyer, Joanne Curran, Jac Charlesworth, Stuart Macgregor, Dale Nyholt, Daniel Chasman, Paul M. Ridker, Markus Schürks, John Blangero, Lyn R. Griffiths
RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas
German Melean, Ana Velasco, Elisabete Hernández-Imaz, Francisco Javier Rodríguez-Álvarez, Yolanda Martín, Ana Valero, Concepción Hernández-Chico
A novel double mutation in cis in MFN2 causes Charcot–Marie–Tooth neuropathy type 2A
Su-Yeon Park, So Yeon Kim, Yoon-Ho Hong, Sung Im Cho, Moon-Woo Seong, Sung Sup Park
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson’s disease
Eva C. Schulte, Brit Mollenhauer, Alexander Zimprich, Benjamin Bereznai, Peter Lichtner, Dietrich Haubenberger, Walter Pirker, Thomas Brücke, Maria J. Molnar, Annette Peters, Christian Gieger, Claudia Trenkwalder, Juliane Winkelmann