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APOE Alleles in Parkinson Disease and Their Relationship to Cognitive Decline: A Population-based, Longitudinal Study
Apolipoprotein E gene alleles have been linked to various cardiovascular and neurodegenerative disorders. There have been conflicting reports of associations between Apolipoprotein E alleles andExpand
Sperm transfer and paternity in the scorpionfly Panorpa cognata: large variance in traits favoured by post-copulatory episodes of sexual selection
Post-copulatory episodes of sexual selection can be a powerful selective force influencing the reproductive success of males. In order to understand variation in male fertilisation success, we firstExpand
Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene
We investigated the gene encoding the β subunit of cGMP phosphodiesterase (PDE6B) as a candidate for generalized progressive retinal atrophy (gPRA), an autosomal recessively transmitted eye diseaseExpand
FMR1 Alleles in Parkinson's Disease: Relation to Cognitive Decline and Hallucinations, A Longitudinal Study
Carriers of expanded alleles of the fragile X mental retardation (FMR1) gene may display parkinsonism, cognitive decline, and behavioral changes. The authors screened 2 male groups of patientsExpand
Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts
Objectives –  Mutations in the Parkin gene can cause autosomal recessive early‐onset Parkinson's disease (PD). Recently, Parkin mutations were also suggested to play a role in the commoner late‐onsetExpand
Substrate deprivation therapy in juvenile Sandhoff disease
SummarySubstrate deprivation therapy has been successfully applied in a number of lysosomal storage diseases, such as Gaucher disease. So far only limited experience is available in Sandhoff disease.Expand
Species-level differentiation of two cryptic species pairs of wild cavies, genera Cavia and Galea, with a discussion of the relationship between social systems and phylogeny in the Caviinae
Two little-known species of guinea-pig from the genera Cavia and Galea (Cavia magna Ximenez, 1980 and Galea sp. nov.) have recently been studied in more detail with respect to their behavior, socialExpand
Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.
PURPOSE Retinitis pigmentosa (RP) is the most common inherited retinal disease with high genetic heterogeneity and variable phenotypes. Characteristic symptoms include night blindness and progressiveExpand
Monozygotic twins with a new compound heterozygous SPG11 mutation and different disease expression
BACKGROUND A pair of monozygotic 22-year-old twins with complicated hereditary spastic paraplegia caused by a novel SPG11 mutation is described. METHODS Genetic testing and thorough clinicalExpand
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene
Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of inherited neuromuscular disorders and have been associated with a wide clinical spectrum, ranging from variousExpand