Battini, Roberta

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., et al. (2012) · Nature Genetics

RNA regulation and diseaseinterferon and immune responses

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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., et al. (2016) · Nature Genetics

Cerebrovascular and genetic disordersGenomics and Rare Diseases

Cited by 148

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease

Battini, R., Alessandrì, M. G., Leuzzi, V., Moro, F., Tosetti, M., Bianchi, M. C., & Cioni, G. (2006) · The Journal of Pediatrics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

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Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

D'Amore, A., Tessa, A., Casali, C., Dotti, M. T., Filla, A., Silvestri, G., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., et al. (2018) · Frontiers in Neurology

Hereditary Neurological DisordersGenomics and Rare Diseases

Cited by 90