Roland Spiegel

Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy

Albert R. La Spada, Daniel B. Roling, Anita E. Harding et al. · Nature Genetics · 1992 · 377 citations

Life Sciences, Genetics, Molecular Genetics +11

Striatal glucose metabolism and dopamine D₂ receptor binding in asymptomatic gene carriers and patients with Huntington's disease

Angelo Antonini, Klaus L. Leenders, Roland Spiegel et al. · Brain · 1996 · 321 citations · Full text

Life Sciences, Neurology, Neuroscience +17

The spectrum of<i>WRN</i>mutations in Werner syndrome patients

Shurong Huang, Lin Lee, Nancy Hanson et al. · Human Mutation · 2006 · 225 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.

Alfred L. George, Karen Sloan‐Brown, Gerald M. Fenichel et al. · PubMed · 1994 · 98 citations

Life Sciences, Genetics, Molecular Genetics +16

Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.

Nina Raben, R Exelbert, Roland Spiegel et al. · PubMed · 1995 · 60 citations

Life Sciences, Biochemistry, Genetics +10