Dutra, Amalia

Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease

Polymeropoulos, M. H., Lavedan, C., Leroy, E., Ide, S. E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., et al. (1997) · Science

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 8,240

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 4,409

Telomere-to-telomere assembly of a complete human X chromosome

Miga, K. H., Koren, S., Rhie, A., Vollger, M. R., Gershman, A., Bzikadze, A., Brooks, S., Howe, E., Porubsky, D., Logsdon, G. A., et al. (2020) · Nature

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 765

Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs

Aflaki, E., Stubblefield, B. K., Maniwang, E., Lopez, G., Moaven, N., Goldin, E., Marugan, J., Patnaik, S., Dutra, A., Southall, N., et al. (2014) · Science Translational Medicine

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 126