Sara Mole
Institute of Child Health(GR)University College London(GB)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Cellular transport and secretion, Glycogen Storage Diseases and Myoclonus, Glycosylation and Glycoproteins Research, Health, Medicine and Society
Most-Cited Works
- → Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A(1993)1,958 cited
- → Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage(2012)485 cited
- → Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses(2011)331 cited
- → Genetics of the neuronal ceroid lipofuscinoses (Batten disease)(2015)323 cited
- → The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8(1999)318 cited
- → Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses(2005)307 cited