Issue 1/2007
Content (11 Articles)
A null mutation in VAMP1/synaptobrevin is associated with neurological defects and prewean mortality in the lethal-wasting mouse mutant
Arne M. Nystuen, Jamie K. Schwendinger, Andrew J. Sachs, Andy W. Yang, Neena B. Haider
Complex gene–gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes
Alison A. Motsinger, David Brassat, Stacy J. Caillier, Henry A. Erlich, Karen Walker, Lori L. Steiner, Lisa F. Barcellos, Margaret A. Pericak-Vance, Silke Schmidt, Simon Gregory, Stephen L. Hauser, Jonathan L. Haines, Jorge R. Oksenberg, Marylyn D. Ritchie
Pin1 levels are downregulated during ER stress in human neuroblastoma cells
Yolanda S. Kap, Jeroen J. M. Hoozemans, Adee J. Bodewes, Rob Zwart, Onno C. Meijer, Frank Baas, Wiep Scheper
Identification of two novel mutations and of a novel critical region in the KRIT1 gene
Vito Guarnieri, Lucia A. Muscarella, Rosina Amoroso, Alessandro Quattrone, Massimo E. Abate, Michelina Coco, Domenico Catapano, Vincenzo A. D’Angelo, Leopoldo Zelante, Leonardo D’Agruma
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination
Nicole I. Wolf, Maria Cundall, Paul Rutland, Elisabeth Rosser, Robert Surtees, Sarah Benton, Wui K. Chong, Sue Malcolm, Friedrich Ebinger, Maria Bitner-Glindzicz, Karen J. Woodward
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome
A. G. Bassuk, Y. Z. Chen, S. D. Batish, N. Nagan, P. Opal, P. F. Chance, C. L. Bennett
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia
Daniela Steinberger, Jutta Trübenbach, Birgit Zirn, Barbara Leube, Gabriele Wildhardt, Ulrich Müller
A novel deletion in the GJA12 gene causes Pelizaeus–Merzbacher-like disease
Leonardo Salviati, Eva Trevisson, Maria Cristina Baldoin, Irene Toldo, Stefano Sartori, Milena Calderone, Romano Tenconi, AnnaMaria Laverda
Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3
Christina A. Gurnett, Matthew B. Dobbs, Catherine R. Keppel, Elisa R. Pincus, Laura A. Jansen, Anne M. Bowcock
Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis
Patrick F. Chinnery, Catherine Mowbray, Hannah Elliot, Joanna L. Elson, Hannah Nixon, Judith Hartley, Pamela J. Shaw
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia
Daniela Steinberger, Jutta Trübenbach, Birgit Zirn, Barbara Leube, Gabriele Wildhardt, Ulrich Müller