Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype Sofia A. OliveiraWilliam K. ScottEden R. Martin Original Article 08 June 2004 Pages: 147 - 155
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations Ingrid K. SvensonMark T. KloosDouglas A. Marchuk Original Article 10 July 2004 Pages: 157 - 164
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey Andrea M. RichterRiza Koksal OzgulHaluk Topaloglu Original Article 20 May 2004 Pages: 165 - 170
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes Kleopas A. KleopaDomna-Maria GeorgiouKyproula Christodoulou Original Article 17 June 2004 Pages: 171 - 175
A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs Maria SpadaroSimona UrsuKarin Jurkat-Rott Original Article 31 July 2004 Pages: 177 - 185
Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia Daniela SteinbergerNenad BlauUlrich Müller Original Article 06 July 2004 Pages: 187 - 190
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia Elena ParriniDavide MeiRenzo Guerrini Short Communication 28 July 2004 Pages: 191 - 196
Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes Cindy KokMarina L. KennersonGarth A. Nicholson Short Communication 06 July 2004 Pages: 197 - 200