Ruth B. Wheeler
St Thomas' Hospital(GB)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Cellular transport and secretion, Glycogen Storage Diseases and Myoclonus, Trypanosoma species research and implications, Carbohydrate Chemistry and Synthesis
Most-Cited Works
- → The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8(1999)318 cited
- → The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein(2002)201 cited
- → CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein(2004)116 cited
- → Spectrum ofCLN6mutations in variant late infantile neuronal ceroid lipofuscinosis(2003)79 cited
- → Pharmacodynamic resistance to warfarin is associated with nucleotide substitutions inVKORC1(2008)69 cited
- → A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset(2005)56 cited
- → A New Locus for Variant Late Infantile Neuronal Ceroid Lipofuscinosis—CLN7(1999)55 cited
- → Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8(2001)54 cited
- → Toxoplasma serology in Zambian and Ugandan patients infected with the human immunodeficiency virus(1991)54 cited
- → Genetic and Physical Mapping of theCLN6Gene on Chromosome 15q21–23(1999)22 cited