• 4436 Citations
  • 37 h-Index
1992 …2019
If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Roberta Battini is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles
Duchenne Muscular Dystrophy Medicine & Life Sciences
Mutation Medicine & Life Sciences
Creatine Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Italy Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1992 2019

  • 4436 Citations
  • 37 h-Index
  • 193 Article
  • 3 Conference contribution
  • 1 Chapter

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

Aromatic-L-Amino-Acid Decarboxylases
Carboxy-Lyases
Genotype
Mutation
Pyridoxal Phosphate

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., Jan 1 2019, (Accepted/In press) In : Molecular Biology Reports.

Research output: Contribution to journalArticle

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, Aug 1 2019, In : PLoS One. 14, 7, p. e0220714

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

Brogna, C., Coratti, G., Pane, M., Ricotti, V., Messina, S., D’Amico, A., Bruno, C., Vita, G., Berardinelli, A., Mazzone, E., Magri, F., Ricci, F., Mongini, T., Battini, R., Bello, L., Pegoraro, E., Baranello, G., Previtali, S. C., Politano, L., Comi, G. P. & 6 others, Sansone, V. A., Donati, A., Bertini, E., Muntoni, F., Goemans, N. & Mercuri, E., 2019, In : PLoS One. 14, 6, e0218683.

Research output: Contribution to journalArticle

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, 2019, In : PLoS One. 14, 6, p. e0218683

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons