Ausgabe 1/2004
Inhalt (14 Artikel)
Friedreich ataxia—update on pathogenesis and possible therapies
Max Voncken, Panos Ioannou, Martin B. Delatycki
Genetic and environmental factors in the pathogenesis of Huntington’s disease
Anton van Dellen, Anthony J. Hannan
Analysis of sequence variability of the bovine prion protein gene (PRNP) in German cattle breeds
Petra Sander, Henning Hamann, Ina Pfeiffer, Wilhelm Wemheuer, Bertram Brenig, Martin H. Groschup, Ute Ziegler, Ottmar Distl, Tosso Leeb
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families
Nacim Louhichi, Chahnez Triki, Susana Quijano-Roy, Pascale Richard, Samira Makri, Mériem Méziou, Brigitte Estournet, Slah Mrad, Norma B. Romero, Hammadi Ayadi, Pascale Guicheney, Faiza Fakhfakh
Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor
Mazal Karpati, Ephraim Gazit, Boleslaw Goldman, Amos Frisch, Roberto Colombo, Leah Peleg
Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy
Wenli Gu, Thomas Sander, Tim Becker, Ortrud K. Steinlein
Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study
Margaret A. Pericak-Vance, Jackie B. Rimmler, Jonathan L. Haines, Melissa E. Garcia, Jorge R. Oksenberg, Lisa F. Barcellos, Robin Lincoln, Stephen L. Hauser, Isabelle Cournu-Rebeix, Ariele Azoulay-Cayla, Olivier Lyon-Caen, Bertrand Fontaine, Emmanuelle Duhamel, Helene Coppin, David Brassat, Marie-Paule Roth, Michel Clanet, Mehdi Alizadeh, Jacqueline Yaouanq, Erwann Quelvennec, Gilbert Semana, Gilles Edan, Marie-Claude Babron, Emmanuelle Genin, Francoise Clerget-Darpoux
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus
M. Muglia, C. Criscuolo, A. Magariello, G. De Michele, V. Scarano, P. D’Adamo, G. Ambrosio, A. L. Gabriele, A. Patitucci, R. Mazzei, F. L. Conforti, T. Sprovieri, L. Morgante, A. Epifanio, P. La Spina, P. Valentino, P. Gasparini, A. Filla, A. Quattrone
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2
Sibylle Jakubiczka, Stefan Vielhaber, Wolfram Kress, Peter Küpferling, Ulrike Reuner, Bernhard Kunath, Peter Wieacker
Sulfite and base for the treatment of familial amyloidotic polyneuropathy: two additive approaches to stabilize the conformation of human amyloidogenic transthyretin
Klaus Altland, Pia Winter, Maria Joao M. Saraiva, Ole Suhr
Novel splice site CACNA1A mutation causing episodic ataxia type 2
M. A. Kaunisto, H. Harno, M. Kallela, H. Somer, R. Sallinen, E. Hämäläinen, P.J. Miettinen, J. Vesa, A. Orpana, A. Palotie, M. Färkkilä, M. Wessman
Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan
Masahiko Yamamoto, Tsuyoshi Yoshihara, Naoki Hattori, Gen Sobue
Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family
R. Rademakers, M. Van den Broeck, K. Sleegers, C. van Duijn, C. Van Broeckhoven, M. Cruts
Mutation analysis of CBL-C and SPRED3 on 19q in human glioblastoma
Masahiro Mizoguchi, Catherine L. Nutt, David N. Louis