Neurogenetics

A null mutation in VAMP1/synaptobrevin is associated with neurological defects and prewean mortality in the lethal-wasting mouse mutant
pp. 1-10(10)
Authors: Nystuen, Arne; Schwendinger, Jamie; Sachs, Andrew; Yang, Andy; Haider, Neena

Complex gene-gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes
pp. 11-20(10)
Authors: Motsinger, Alison; Brassat, David; Caillier, Stacy; Erlich, Henry; Walker, Karen; Steiner, Lori; Barcellos, Lisa; Pericak-Vance, Margaret; Schmidt, Silke; Gregory, Simon; Hauser, Stephen; Haines, Jonathan; Oksenberg, Jorge; Ritchie, Marylyn

Pin1 levels are downregulated during ER stress in human neuroblastoma cells
pp. 21-27(7)
Authors: Kap, Yolanda; Hoozemans, Jeroen; Bodewes, Adee; Zwart, Rob; Meijer, Onno; Baas, Frank; Scheper, Wiep

Identification of two novel mutations and of a novel critical region in the KRIT1 gene
pp. 29-37(9)
Authors: Guarnieri, Vito; Muscarella, Lucia; Amoroso, Rosina; Quattrone, Alessandro; Abate, Massimo; Coco, Michelina; Catapano, Domenico; D'Angelo, Vincenzo; Zelante, Leopoldo; D'Agruma, Leonardo

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination
pp. 39-44(6)
Authors: Wolf, Nicole; Cundall, Maria; Rutland, Paul; Rosser, Elisabeth; Surtees, Robert; Benton, Sarah; Chong, Wui; Malcolm, Sue; Ebinger, Friedrich; Bitner-Glindzicz, Maria; Woodward, Karen

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome
pp. 45-49(5)
Authors: Bassuk, A.; Chen, Y.; Batish, S.; Nagan, N.; Opal, P.; Chance, P.; Bennett, C.

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia
pp. 51-55(5)
Authors: Steinberger, Daniela; Trübenbach, Jutta; Zirn, Birgit; Leube, Barbara; Wildhardt, Gabriele; Müller, Ulrich

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease
pp. 57-60(4)
Authors: Salviati, Leonardo; Trevisson, Eva; Baldoin, Maria; Toldo, Irene; Sartori, Stefano; Calderone, Milena; Tenconi, Romano; Laverda, AnnaMaria

Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3
pp. 61-63(3)
Authors: Gurnett, Christina; Dobbs, Matthew; Keppel, Catherine; Pincus, Elisa; Jansen, Laura; Bowcock, Anne

Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis
pp. 65-67(3)
Authors: Chinnery, Patrick; Mowbray, Catherine; Elliot, Hannah; Elson, Joanna; Nixon, Hannah; Hartley, Judith; Shaw, Pamela

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia
pp. 69-69(1)
Authors: Steinberger, Daniela; Trübenbach, Jutta; Zirn, Birgit; Leube, Barbara; Wildhardt, Gabriele; Müller, Ulrich