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Gene Therapy|June 22, 2007
Drosophila deoxyribonucleoside kinase mutants with enhanced ability to phosphorylate purine analogsW Knecht, E Rozpedowska, C Le Breton, et al.Clinical Genetics|June 18, 2015
Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genesT Vinther-Jensen, T T Nielsen, E Budtz-Jørgensen, et al.American Journal of Nephrology|January 1, 1996
Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failureA Van Loo, R Vanholder, K Madsen, et al.Journal of the Neurological Sciences|May 20, 1998
Machado-Joseph disease in three Scandinavian familiesT Løkkegaard, J E Nielsen, L Hasholt, et al.European Journal of Neurology|January 26, 2005
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutationJ E Nielsen, B Johnsen, P Koefoed, et al.European Journal of Neurology|August 30, 2008
A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairmentS G Lindquist, L Hasholt, J M C Bahl, et al.Pageof 4