Julie D. Sharp
The Royal Free Hospital(GB)University College London(GB)Royal College of Paediatrics and Child Health(GB)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Cellular transport and secretion, Glycogen Storage Diseases and Myoclonus, Glycosylation and Glycoproteins Research, 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
- → Association study of a dopamine transporter polymorphism and attention deficit hyperactivity disorder in UK and Turkish samples(2001)161 cited
- → CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein(2004)116 cited
- Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.(1994)
- → Spectrum ofCLN6mutations in variant late infantile neuronal ceroid lipofuscinosis(2003)79 cited
- → Attention deficit hyperactivity disorder (ADHD) and the dopamine D4 receptor gene: evidence of association but no linkage in a UK sample