Frucht, Steven

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Haack, T. B., Hogarth, P., Kruer, M. C., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., et al. (2012) · The American Journal of Human Genetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 360

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Hayflick, S. J., Kruer, M. C., Gregory, A., Haack, T. B., Kurian, M. A., Houlden, H. H., Anderson, J., Boddaert, N., Sanford, L., Harik, S. I., et al. (2013) · Brain

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 250

Dysregulation of mitochondrial and proteolysosomal genes in Parkinson’s disease myeloid cells

Navarro, E., Udine, E., Lopes, K. D. P., Parks, M., Riboldi, G., Schilder, B. M., Humphrey, J., Snijders, G. J. L., Vialle, R. A., Zhuang, M., et al. (2021) · Nature Aging

Parkinson's Disease Mechanisms and TreatmentsNeuroinflammation and Neurodegeneration Mechanisms

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Targeting neurons in the gastrointestinal tract to treat Parkinson's disease

Hauser, R. A., Sutherland, D., Madrid, J. A., Rol, M. A., Frucht, S., Isaacson, S., Pagan, F., Maddux, B. N., Li, G., Tse, W., et al. (2019) · Clinical Parkinsonism & Related Disorders

Parkinson's Disease Mechanisms and TreatmentsGastrointestinal motility and disorders

Cited by 44