Concepedia

Roland Spiegel

RS

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Publications

15

Citations

1.4K

H-Index

14

Active since

1992

Affiliations

University of Zurich(Current)

Technical University of Munich

Sophia Genetics (Switzerland)

University of Pennsylvania

University Hospital of Basel

Roland Spiegel is an author at University of Zurich specializing in medicine, genetics, and molecular genetics.

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Publications per year

1992–2018

15

Publications

15

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

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Striatal glucose metabolism and dopamine D<sub>2</sub> receptor binding in asymptomatic gene carriers and patients with Huntington's disease

Angelo Antonini, Klaus L. Leenders, Roland Spiegel et al. · Brain · 1996 · 320 citations · Full text

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

Shurong Huang, Lin Lee, Nancy Hanson et al. · Human Mutation · 2006 · 223 citations · Full text

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

, , +9

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

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