Ausgabe 1/2009
Inhalt (13 Artikel)
Risk for multiple sclerosis in relatives and spouses of patients diagnosed with autoimmune and related conditions
Kari Hemminki, Xinjun Li, Jan Sundquist, Jan Hillert, Kristina Sundquist
Alzheimer’s disease risk variants show association with cerebrospinal fluid amyloid beta
John S. K. Kauwe, Jun Wang, Kevin Mayo, John C. Morris, Anne M. Fagan, David M. Holtzman, Alison M. Goate
Assessment of Alzheimer’s disease case–control associations using family-based methods
Brit-Maren M. Schjeide, Matthew B. McQueen, Kristina Mullin, Jason DiVito, Meghan F. Hogan, Michele Parkinson, Basavaraj Hooli, Christoph Lange, Deborah Blacker, Rudolph E. Tanzi, Lars Bertram
Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation
Lena Skoglund, RoseMarie Brundin, Tommie Olofsson, Hannu Kalimo, Sofie Ingvast, Elin S. Blom, Vilmantas Giedraitis, Martin Ingelsson, Lars Lannfelt, Hans Basun, Anna Glaser
A locus for bilateral occipital polymicrogyria maps to chromosome 6q16–q22
Bouchra Ouled Amar Ben Cheikh, Stéphanie Baulac, Fatiha Lahjouji, Ahmed Bouhouche, Philippe Couarch, Naima Khalili, Wafae Regragui, Stéphane Lehericy, Merle Ruberg, Ali Benomar, Simon Heath, Taib Chkili, Mohamed Yahyaoui, Mohamed Jiddane, Reda Ouazzani, Eric LeGuern
Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization
Peter Bauer, Beate Winner, Rebecca Schüle, Claudia Bauer, Veronika Häfele, Ute Hehr, Michael Bonin, Michael Walter, Kathrin Karle, Thomas M. Ringer, Olaf Rieß, Jürgen Winkler, Ludger Schöls
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles
Stefania Zampieri, Mirella Filocamo, Emanuele Buratti, Marina Stroppiano, Kristian Vlahovicek, Natalia Rosso, Eleonora Bignulin, Stefano Regis, Franco Carnevale, Bruno Bembi, Andrea Dardis
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
Thilo Herzfeld, Nicole Wolf, Pia Winter, Holger Hackstein, Daniel Vater, Ulrich Müller
Association of dopamine transporter and monoamine oxidase molecular polymorphisms with sudden infant death syndrome and stillbirth: new insights into the serotonin hypothesis
Laura Filonzi, Cinzia Magnani, Anna Maria Lavezzi, Guido Rindi, Stefano Parmigiani, Giulio Bevilacqua, Luigi Matturri, Francesco Nonnis Marzano
A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis
E. Stogmann, S. El Tawil, J. Wagenstaller, A. Gaber, S. Edris, A. Abdelhady, E. Assem-Hilger, F. Leutmezer, S. Bonelli, C. Baumgartner, F. Zimprich, T. M. Strom, A. Zimprich
Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation
B. Bartelt-Kirbach, M. Wuepping, M. Dodrimont-Lattke, D. Kaufmann
Erratum to ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia
Sascha Vermeer, Rowdy P. P. Meijer, Benjamin J. Pijl, Janneke Timmermans, Johannes R. M. Cruysberg, Maaike M. Bos, Helenius J. Schelhaas, Bart. P. C. van de Warrenburg, Nine V. A. M. Knoers, Hans Scheffer, Berry Kremer