Ausgabe 2/2013
Inhalt (9 Artikel)
Natural history of neurofibromatosis type 2 with onset before the age of 1 year
Martino Ruggieri, Anna Lia Gabriele, Agata Polizzi, Vincenzo Salpietro, Francesco Nicita, Piero Pavone, Nunzio Platania, Pietro Milone, Angela Distefano, Giuseppe Privitera, Giuseppe Belfiore, Francesca Granata, Rosario Caltabiano, Vincenzo Albanese, Lorenzo Pavone, Aldo Quattrone
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
Alex R. Paciorkowski, Ryan N. Traylor, Jill A. Rosenfeld, Jacqueline M. Hoover, Catharine J. Harris, Susan Winter, Yves Lacassie, Martin Bialer, Allen N. Lamb, Roger A. Schultz, Elizabeth Berry-Kravis, Brenda E. Porter, Marni Falk, Anu Venkat, Rena J. Vanzo, Julie S. Cohen, Ali Fatemi, William B. Dobyns, Lisa G. Shaffer, Blake C. Ballif, Eric D. Marsh
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype
Heather R. Tiffin, Zandra A. Jenkins, Mary J. Gray, Sophia R. Cameron-Christie, Jennifer Eaton, Salim Aftimos, David Markie, Stephen P. Robertson
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland
Mari Auranen, Emil Ylikallio, Jussi Toppila, Mirja Somer, Sari Kiuru-Enari, Henna Tyynismaa
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions
Florence Riant, Michaelle Cecillon, Pascale Saugier-Veber, Elisabeth Tournier-Lasserve
Peripheral blood gene expression signature differentiates children with autism from unaffected siblings
S. W. Kong, Y. Shimizu-Motohashi, M. G. Campbell, I. H. Lee, C. D. Collins, S. J. Brewster, I. A. Holm, L. Rappaport, I. S. Kohane, L. M. Kunkel
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
Célia Nogueira, José Barros, Maria José Sá, Luísa Azevedo, Ricardo Taipa, Alessandra Torraco, Maria Chiara Meschini, Daniela Verrigni, Claudia Nesti, Teresa Rizza, João Teixeira, Rosalba Carrozzo, Manuel Melo Pires, Laura Vilarinho, Filippo M. Santorelli
The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms
Antonino Cannas, Giuseppe Borghero, Gian Luca Floris, Paolo Solla, Adriano Chiò, Bryan J. Traynor, Andrea Calvo, Gabriella Restagno, Elisa Majounie, Emanuela Costantino, Valeria Piras, Loredana Lavra, Carla Pani, Gianni Orofino, Francesca Di Stefano, Paolo Tacconi, Marcello Mario Mascia, Antonella Muroni, Maria Rita Murru, Stefania Tranquilli, Daniela Corongiu, Marcella Rolesu, Stefania Cuccu, Francesco Marrosu, Maria Giovanna Marrosu
Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia–parkinsonism
Toshitaka Kawarai, Paul Matthew D. Pasco, Rosalia A. Teleg, Masaki Kamada, Waka Sakai, Komei Shimozono, Makoto Mizuguchi, Daisy Tabuena, Antonio Orlacchio, Yuishin Izumi, Satoshi Goto, Lillian V. Lee, Ryuji Kaji