Vincent Procaccio
Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG)
University of California
Irvine 92697-3940
USA
Name/email consistency: high
- A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Procaccio, V., Salazar, G., Ono, S., Styers, M.L., Gearing, M., Davila, A., Jimenez, R., Juncos, J., Gutekunst, C.A., Meroni, G., Fontanella, B., Sontag, E., Sontag, J.M., Faundez, V., Wainer, B.H. Am. J. Hum. Genet. (2006)
- Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes. Procaccio, V., Neckelmann, N., Paquis-Flucklinger, V., Bannwarth, S., Jimenez, R., Davila, A., Poole, J.C., Wallace, D.C. Molecular. Diagnosis. &. Therapy (2006)
- Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Procaccio, V., Wallace, D.C. Neurology (2004)