K
Kay E. Davies
Researcher at University of Oxford
Publications - 580
Citations - 40236
Kay E. Davies is an academic researcher from University of Oxford. The author has contributed to research in topics: Duchenne muscular dystrophy & Dystrophin. The author has an hindex of 100, co-authored 573 publications receiving 38462 citations. Previous affiliations of Kay E. Davies include Case Western Reserve University & Technische Universität München.
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Journal ArticleDOI
Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q).
Theodore L. Munsat,L. Skerry,Bruce R. Korf,Barbara R. Pober,Y. Schapira,G. G. Gascon,S. M. Al-Rajeh,Victor Dubowitz,Kay E. Davies,Linda M. Brzustowicz,Penchaszadeh Gk,T. C. Gilliam +11 more
TL;DR: Analysis of SMA 5q families supports the view that, with certain exceptions, there is little phenotypic intrafamilial variability and there are as yet no unambiguous cases of typical SMA families that are clearly unlinked to the locus at 5q–ie, no clear cases of nonallelic heterogeneity.
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Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe.
Kay E. Davies,J Jackson,Robert Williamson,Peter S. Harper,S. P. Ball,Mansoor Sarfarazi,L. Meredith,G. Fey +7 more
TL;DR: The segregation data for both the C2 protein polymorphism and the C3 RFLP support the linkage of myotonic dystrophy and C3, and can be readily used in linkage analyses of loci on chromosome 19.
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A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13
Michael J. Francis,Karen E. Morrison,L Campbell,Prabhjit K. Grewal,Zoe Christodoulou,R. J. Daniels,Anthony P. Monaco,Anne Marie Frischauf,John Douglas Mcpherson,John J. Wasmuth,Kay E. Davies +10 more
TL;DR: The data show the value of screening several YAC libraries simultaneously in order to construct a set of overlapping sequences suitable for candidate gene searches and direct genomic sequencing.
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A study of genetic linkage heterogeneity in adult polycystic kidney disease.
Stephen T. Reeders,Martijn H. Breuning,Markku A. Ryynanen,Alan F. Wright,Kay E. Davies,Andrew W. King,M. L. Watson,David J. Weatherall +7 more
TL;DR: The mutation for adult polycystic kidney disease (APKD) has previously been localised to chromosome 16 by the demonstration of genetic linkage with the loci for the alpha-chain of haemoglobin and phosphoglycolate phosphatase.
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Dismutase-competent SOD1 mutant accumulation in myelinating Schwann cells is not detrimental to normal or transgenic ALS model mice
TL;DR: It is concluded that dismutase-competent mutant SOD1 accumulation within Schwann cells is not pathological to spinal motor neurons or deleterious to disease course in transgenic ALS model mice, in contrast to astrocytes and microglia.