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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
- M. MacDonald, C. Ambrose, M. Duyao, R. Myers, P. Harper
- Biology, Medicine
- Cell
- 25 March 1993
The Huntington's disease (HD) gene has been mapped in 4p16.3 but has eluded identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the… Expand
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.
- M. Fardaei, M. Rogers, +4 authors J. D. Brook
- Biology, Medicine
- Human molecular genetics
- 1 April 2002
Myotonic dystrophy is a complex neuromuscular disorder associated with DNA expansion mutations in two different genes. In DM1 a CTG repeat in the 3'-untranslated region of DMPK is expanded, whereas… Expand
Practical genetic counselling
- P. Harper
- Medicine
- 29 January 1981
General Aspects of Genetic Counselling Genetic Counselling: an Introduction Genetic Counselling in Mendelian Disorders Common Disorders and Genetic Counselling Chromosome Abnormalities Molecular… Expand
Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.
- S. Huson, P. Harper, D. Compston
- Medicine
- Brain : a journal of neurology
- 1 December 1988
A population-based study in south-east Wales (population 668,100) identified 135 patients with von Recklinghausen neurofibromatosis (prevalence 20/10(5]. In addition to multiple café-au-lait spots… Expand
The epidemiology of Huntington's disease
- P. Harper
- Biology, Medicine
- Human Genetics
- 1 June 1992
SummaryThe available information on the world distribution of Huntington's disease (HD) from population surveys and death rate analysis is summarised and discussed in the light of genetic studies. It… Expand
Mutations in TITF-1 are associated with benign hereditary chorea.
- G. Breedveld, J. V. van Dongen, +14 authors P. Heutink
- Biology, Medicine
- Human molecular genetics
- 15 April 2002
Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families… Expand
Huntington's disease
- P. Harper
- Psychology
- 1991
Introduction - an historical background, Peter Harper and Michael Morris the clinical neurology of Huntington's disease, Oliver Quarrell and Peter Harper psychiatric aspects of Huntington's disease,… Expand
Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.
- A. Clarke, D. Phillips, R. Brown, P. Harper
- Medicine
- Archives of disease in childhood
- 1 October 1987
Boys with X-linked hypohidrotic ectodermal dysplasia and their families were studied. Many suffered severe illness in early childhood and nearly 30% died; many had feeding problems, severe fever,… Expand
Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin.
- J. M. Boutell, P. Thomas, +4 authors A. L. Jones
- Biology, Medicine
- Human molecular genetics
- 1 September 1999
We detected an interaction of the N-terminus of huntingtin (htt171) with the C-terminal region of the nuclear receptor co-repressor (N-CoR) using the yeast two-hybrid system. This interaction was… Expand
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