M Weigell-Weber
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View article: Genomewide Homozygosity Mapping and Molecular Analysis of a Candidate Gene Located on 22q13 (Fibulin-1) in a Previously Undescribed Vitreoretinal Dystrophy
Genomewide Homozygosity Mapping and Molecular Analysis of a Candidate Gene Located on 22q13 (Fibulin-1) in a Previously Undescribed Vitreoretinal Dystrophy Open
A genomewide homozygosity mapping analysis supported the hypothesis that the gene responsible for a unique vitreoretinal dystrophy is located on chromosome 22q13. No obviously pathogenic mutation was found in the candidate gene, FBLN1.
View article: Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina.
Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina. Open
The family provides evidence for genetic heterogeneity of PDR and is in agreement with heterogeneity in other retinal dystrophies. Further investigations are in progress to map the gene causing PDR in this family.
View article: Striatal glucose metabolism and dopamine D<sub>2</sub> receptor binding in asymptomatic gene carriers and patients with Huntington's disease
Striatal glucose metabolism and dopamine D<sub>2</sub> receptor binding in asymptomatic gene carriers and patients with Huntington's disease Open
We used PET scans with the tracers [18F]fluorodeoxyglucose (FDG) and [11C]raclopride (RACLO) to study glucose metabolism and dopamine D2 receptor binding in the caudate nucleus and putamen of 18 carriers of the Huntington's disease gene mu…