Ausgabe 3/2004
Inhalt (8 Artikel)
Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype
Sofia A. Oliveira, William K. Scott, Fengyu Zhang, Jeffrey M. Stajich, Kenichiro Fujiwara, Michael Hauser, Burton L. Scott, Margaret A. Pericak-Vance, Jeffery M. Vance, Eden R. Martin
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations
Ingrid K. Svenson, Mark T. Kloos, P. Craig Gaskell, Martha A. Nance, James Y. Garbern, Shin-ichi Hisanaga, Margaret A. Pericak-Vance, Allison E. Ashley-Koch, Douglas A. Marchuk
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey
Andrea M. Richter, Riza Koksal Ozgul, Virginie C. Poisson, Haluk Topaloglu
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes
Kleopas A. Kleopa, Domna-Maria Georgiou, Paschalis Nicolaou, Pantelitsa Koutsou, Eleftherios Papathanasiou, Theodoros Kyriakides, Kyproula Christodoulou
A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs
Maria Spadaro, Simona Ursu, Frank Lehmann-Horn, Veneziano Liana, Antonini Giovanni, Giunti Paola, Marina Frontali, Karin Jurkat-Rott
Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia
Daniela Steinberger, Nenad Blau, Dimitri Goriuonov, Juliane Bitsch, Michael Zuker, Sibylla Hummel, Ulrich Müller
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia
Elena Parrini, Davide Mei, Micheal Wright, Thomas Dorn, Renzo Guerrini
Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes
Cindy Kok, Marina L. Kennerson, Simon J. Myers, Garth A. Nicholson