Gass, Jennifer

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., Lindholm, C., Snowden, J., Adamson, J., Sadovnick, A. D., Rollinson, S., et al. (2006) · Nature

Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis Research

Cited by 2,058

Maple syrup urine disease: mechanisms and management

Blackburn, P., Gass, J., Pinto e Vairo, F., Farnham, K., Atwal, H., Macklin, S., Klee, E., & Atwal, P. (2017) · The Application of Clinical Genetics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 280

Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers-Danlos syndrome

Blackburn, P. R., Xu, Z., Tumelty, K. E., Zhao, R. W., Monis, W. J., Harris, K. G., Gass, J. M., Cousin, M. A., Boczek, N. J., Mitkov, M. V., et al. (2018) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 176

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

Rademakers, R., Melquist, S., Cruts, M., Theuns, J., Del-Favero, J., Poorkaj, P., Baker, M., Sleegers, K., Crook, R., De Pooter, T., et al. (2005) · Human Molecular Genetics

Parkinson's Disease Mechanisms and TreatmentsAlzheimer's disease research and treatments

Cited by 164