Peter S. Harper
University of Bath(GB)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, BRCA gene mutations in cancer, Muscle Physiology and Disorders, Nutrition, Genetics, and Disease
Most-Cited Works
- → Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member(1992)2,767 cited
- → Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease(1993)715 cited
- → VON RECKLINGHAUSEN NEUROFIBROMATOSIS(1988)684 cited
- → A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.(1989)542 cited
- Phenotypic Characterization of Individuals with 30–40 CAG Repeats in the Huntington Disease (HD) Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36–39 Repeats(1996)
- → Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome(1983)393 cited