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missense mutation
16
"Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders" (2017) González-Morón, D.;Vishnopolska, S.;Consalvo, D. (...)Kauffman, M.A. PLoS ONE. 12(9)
"Mitochondrial genome architecture in non-alcoholic fatty liver disease" (2016) Sookoian, S.;Flichman, D.;Scian, R. (...)Pirola, C.J. Journal of Pathology. 240(4):437-449
"Acute intermittent porphyria in argentina: An update" (2015) Cerbino, G.N.;Gerez, E.N.;Varela, L.S. (...)Rossetti, M.V. BioMed Research International. 2015
"Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder" (2015) Nemirovsky, S.I.;Córdoba, M.;Zaiat, J.J. (...)Kauffman, M.A. PLoS ONE. 10(2)
"Inhibitor of growth 1 (ING1) acts at early steps of multiple DNA repair pathways" (2013) Ceruti, J.M.;Ogara, M.F.;Menéndez, C. (...)Cánepa, E.T. Molecular and Cellular Biochemistry. 378(1-2):117-126
"Presynaptic Cav2.1 calcium channels carrying familial hemiplegic migraine mutation R192Q allow faster recovery from synaptic depression in mouse calyx of Held" (2012) Inchauspe, C.G.;Urbano, F.J.;Di Guilmi, M.N. (...)Uchitel, O.D. Journal of Neurophysiology. 108(11):2967-2976
"Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors" (2011) Bae, G.-U.;Domené, S.;Roessler, E. (...)Krauss, R.S. American Journal of Human Genetics. 89(2):231-240
"Gain of function in FHM-1 CaV2.1 knock-in mice is related to the shape of the action potential" (2010) Inchauspe, C.G.;Urbano, F.J.;Di Guilmi, M.N. (...)Uchitel, O.D. Journal of Neurophysiology. 104(1):291-299
"Genetic and biochemical studies in Argentinean patients with variegate porphyria" (2008) Rossetti, M.V.;Granata, B.X.;Giudice, J. (...)Batlle, A. BMC Medical Genetics. 9
"Alternative splicing: Multiple control mechanisms and involvement in human disease" (2002) Cáceres, J.F.; Kornblihtt, A.R. Trends in Genetics. 18(4):186-193
"Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria." (2000) De Siervi, A.; Parera, V.E.; del C Batlle, A.M.; Rossetti, M.V. Human mutation. 16(6):532