Issue 4/2003
Content (12 Articles)
Dementia with Lewy bodies: disease concept and genetics
Manuel B. Graeber, Ulrich Müller
Gene expression profiling of Duchenne muscular dystrophy skeletal muscle
Judith N. Haslett, Despina Sanoudou, Alvin T. Kho, Mei Han, Richard R. Bennett, Isaac S. Kohane, Alan H. Beggs, Louis M. Kunkel
Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus
Désirée von Tell, Carl E. G. Bruder, Louise V. B. Anderson, Maria Anvret, Gabrielle Åhlberg
Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region
Danqing Zhu, Marina Kennerson, John Merory, Roman Chrast, Mark Verheijen, Greg Lemke, Garth Nicholson
Haplotype analysis of the ETM2 locus in familial essential tremor
Joseph J. Higgins, Joseph Jankovic, Roni Q. Lombardi, Joanna Pucilowska, Eng King Tan, Tetsuo Ashizawa, Melanie U. Ruszczyk
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family
Alejandro Leal, Corinna Berghoff, Martin Berghoff, Gerardo Del Valle, Carlos Contreras, Olga Montoya, Erick Hernández, Ramiro Barrantes, Ursula Schlötzer-Schrehardt, Bernhard Neundörfer, André Reis, Bernd Rautenstrauss, Dieter Heuss
A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia
David K. Simon, Jennifer Friedman, Xandra O. Breakefield, Joseph Jankovic, Mitchell F. Brin, John Provias, Susan B. Bressman, Michael E. Charness, Daniel Tarsy, Donald R. Johns, Mark A. Tarnopolsky
Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants
Alessandro De Luca, Mario Rizzardi, Anna Buccino, Rosina Alessandroni, Gian Paolo Salvioli, Nando Filograsso, Giuseppe Novelli, Bruno Dallapiccola
Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2
U. Finckh, K. van Hadeln, T. Müller-Thomsen, A. Alberici, G. Binetti, C. Hock, R. M. Nitsch, G. Stoppe, J. Reiss, A. Gal
Point mutations in exon 1 of the NR4A2 gene are not a major cause of familial Parkinson′s disease
Alexander Zimprich, Friedrich Asmus, Petra Leitner, Mirna Castro, Benjamin Bereznai, Nikolaus Homann, Erwin Ott, A. Wijnand F. Rutgers, Gyri Wieditz, Claudia Trenkwalder, Thomas Gasser
Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis
Ammar Al-Chalabi, Valerie K. Hansen, Claire L. Simpson, Jing Xi, Betsy A. Hosler, John F. Powell, Diane McKenna-Yasek, Christopher E. Shaw, P. Nigel Leigh, Robert H. Brown Jr