Issue 1/2013
Content (10 Articles)
Splice variants of the Alzheimer’s disease beta-secretase, BACE1
R. M. Damian Holsinger, Nelleke Goense, John Bohorquez, Padraig Strappe
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Sandy Chan Hsu, Renee L. Sears, Roberta R. Lemos, Beatriz Quintáns, Alden Huang, Elizabeth Spiteri, Lisette Nevarez, Catherine Mamah, Mayana Zatz, Kerrie D. Pierce, Janice M. Fullerton, John C. Adair, Jon E. Berner, Matthew Bower, Henry Brodaty, Olga Carmona, Valerija Dobricić, Brent L. Fogel, Daniel García-Estevez, Jill Goldman, John L. Goudreau, Suellen Hopfer, Milena Janković, Serge Jaumà, Joanna C. Jen, Suppachok Kirdlarp, Joerg Klepper, Vladimir Kostić, Anthony E. Lang, Agnès Linglart, Melissa K. Maisenbacher, Bala V. Manyam, Pietro Mazzoni, Zofia Miedzybrodzka, Witoon Mitarnun, Philip B. Mitchell, Jennifer Mueller, Ivana Novaković, Martin Paucar, Henry Paulson, Sheila A. Simpson, Per Svenningsson, Paul Tuite, Jerrold Vitek, Suppachok Wetchaphanphesat, Charles Williams, Michele Yang, Peter R. Schofield, João R. M. de Oliveira, María-Jesús Sobrido, Daniel H. Geschwind, Giovanni Coppola
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders
J. J. T. van Harssel, S. Weckhuysen, M. J. A. van Kempen, K. Hardies, N. E. Verbeek, C. G. F. de Kovel, W. B. Gunning, E. van Daalen, M. V. de Jonge, A. C. Jansen, R. J. Vermeulen, W. F. M. Arts, H. Verhelst, A. Fogarasi, J. F. de Rijk-van Andel, A. Kelemen, D. Lindhout, P. De Jonghe, B. P. C. Koeleman, A. Suls, E. H. Brilstra
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2
B.-O. Choi, M.-H. Park, K. W. Chung, H.-M. Woo, H. Koo, H.-K. Chung, K.-G. Choi, K. D. Park, H. J. Lee, Y. S. Hyun, S. K. Koo
Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations
Cathryn Poulton, Renske Oegema, Daphne Heijsman, Jeannette Hoogeboom, Rachel Schot, Hans Stroink, Michèl A. Willemsen, Frans W. Verheijen, Peter van de Spek, Andreas Kremer, Grazia M. S. Mancini
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases
Larissa Arning, Jörg T. Epplen, Elisa Rahikkala, Corinna Hendrich, Albert C. Ludolph, Anne-Dorte Sperfeld
Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y
Mohammed Yusuf, Kay Leung, Keith J. Morris, Emanuela V. Volpi
Refining the phenotype associated with MEF2C point mutations
Thierry Bienvenu, Bertrand Diebold, Jamel Chelly, Bertrand Isidor
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype
Carlo C. Quattrocchi, Ginevra Zanni, Antonio Napolitano, Daniela Longo, Duccio Maria Cordelli, Sabina Barresi, Francesco Randisi, Enza Maria Valente, Tommaso Verdolotti, Elisabetta Genovese, Nicola Specchio, Giuseppina Vitiello, Ronen Spiegel, Enrico Bertini, Bruno Bernardi
Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis
Dennis Lal, Kerstin Becker, Susanne Motameny, Janine Altmüller, Holger Thiele, Peter Nürnberg, Uwe Ahting, Boris Rolinski, Bernd A. Neubauer, Andreas Hahn