1992 …2020

Research output per year

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Research Output

A novel IRF2BPL truncating variant is associated with endolysosomal storage

Ginevrino, M., Battini, R., Nuovo, S., Simonati, A., Micalizzi, A., Contaldo, I., Serpieri, V. & Valente, E. M., 2020, In : Molecular Biology Reports. 47, 1, p. 711-714 4 p.

Research output: Contribution to journalArticle

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

Orcesi Simona, 2020, In : Human Mutation. 41, 4, p. 837-849 13 p.

Research output: Contribution to journalArticle

Age and sex prevalence estimate of Joubert syndrome in Italy

JS Italian Study Group, Sep 2 2019, In : Neurology.

Research output: Contribution to journalArticle

  • Age and sex prevalence estimate of Joubert syndrome in Italy

    Group, JS. I. S., Nuovo, S., Bacigalupo, I., Ginevrino, M., Battini, R., Bertini, E., Borgatti, R., Casella, A., Micalizzi, A., Nardella, M., Romaniello, R., Serpieri, V., Zanni, G., Valente, E. M. & Vanacore, N., Sep 2 2019, In : Neurology.

    Research output: Contribution to journalArticle

  • A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies

    Montioli, R., Battini, R., Paiardini, A., Tolve, M., Bertoldi, M., Carducci, C., Leuzzi, V. & Borri Voltattorni, C., Jun 2019, In : Molecular Genetics and Metabolism. 127, 2, p. 132-137 6 p.

    Research output: Contribution to journalArticle