Garavaglia, Barbara

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

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Salpietro, V., Malintan, N. T., Llano-Rivas, I., Spaeth, C. G., Efthymiou, S., Striano, P., Vandrovcova, J., Cutrupi, M. C., Chimenz, R., David, E., et al. (2019) · The American Journal of Human Genetics

Cellular transport and secretionGenetics and Neurodevelopmental Disorders

Cited by 134

Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria

Uziel, G., Garavaglia, B., & Di Donato, S. (1988) · Muscle & Nerve

Biochemical Acid Research StudiesMitochondrial Function and Pathology

Cited by 118

Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome

Cozzi, A., Santambrogio, P., Privitera, D., Broccoli, V., Rotundo, L. I., Garavaglia, B., Benz, R., Altamura, S., Goede, J. S., Muckenthaler, M. U., et al. (2013) · Journal of Experimental Medicine

Iron Metabolism and DisordersNeurological diseases and metabolism

Cited by 47