Sara Mole

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

Lois M. Mulligan, John B. Kwok, Catherine S. Healey et al. · Nature · 1993 · 2K citations

Endocrine Oncology, Germ-line Mutations, Developmental Biology +7

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith, John A. Damiano, Silvana Franceschetti et al. · The American Journal of Human Genetics · 2012 · 479 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +15

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

Susanna Ranta, Yonghui Zhang, Barbara Ross et al. · Nature Genetics · 1999 · 318 citations

Neuronal Ceroid Lipofuscinoses, Molecular Neuroscience, Ependyma +7

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová et al. · The American Journal of Human Genetics · 2011 · 261 citations · Full text

Linkage Mapping, Neurogenomics, Genetics +21

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

José Brás, Alain Verloès, Susanne A. Schneider et al. · Human Molecular Genetics · 2012 · 260 citations · Full text