• 20 Citations
  • 3 h-Index
20132018
If you made any changes in Pure these will be visible here soon.

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

  • 14 Similar Profiles
Dystroglycans Medicine & Life Sciences
Muscles Medicine & Life Sciences
Mutation Medicine & Life Sciences
Zebrafish Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences
Genes Medicine & Life Sciences
Creatine Kinase Medicine & Life Sciences
Neuroimaging Medicine & Life Sciences

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

Research Output 2013 2018

  • 20 Citations
  • 3 h-Index
  • 7 Article

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report

Moro, F., Rubegni, A., Pochiero, F., Mero, S., Procopio, E., Baldacci, J., Donati, M. A. & Santorelli, F. M., Jan 1 2018, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Mitochondrial Encephalomyopathies
Muscles
Mutation
Muscle Weakness
Cardiomegaly
4 Citations (Scopus)

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review

Mari, F., Berti, B., Romano, A., Baldacci, J., Rizzi, R., Grazia Alessandrì, M., Tessa, A., Procopio, E., Rubegni, A., Lourenḉo, C. M., Simonati, A., Guerrini, R. & Santorelli, F. M., May 1 2018, In : Neurogenetics. 19, 2, p. 123-130 8 p.

Research output: Contribution to journalArticle

Neuroimaging
Dysarthria
Mutation
Dystonia
Hydrolases
7 Citations (Scopus)

Congenital myopathies: Clinical phenotypes and new diagnostic tools

Cassandrini, D., Trovato, R., Rubegni, A., Lenzi, S., Fiorillo, C., Baldacci, J., Minetti, C., Astrea, G., Bruno, C., Santorelli, F. M., Berardinelli, A., Bertini, E. S., Comi, G., D'Amico, A., Donati, M. A., Dotti, M. T., Fattori, F., Grandis, M., Maggi, L., Magri, F. & 25 others, Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Mercuri, E., Merlini, L., Moggio, M., Mora, M., Morandi, L. O., Musumeci, O., Nigro, V., Pane, M., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Savarese, M., Siciliano, G., Simonati, A., Tonin, P. & Toscano, A., 2017, In : Italian Journal of Pediatrics. 43, 1

Research output: Contribution to journalArticle

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan

Marchese, M., Pappalardo, A., Baldacci, J., Verri, T., Doccini, S., Cassandrini, D. A., Bruno, C., Fiorillo, C., Garcia-Gil, M., Bertini, E. S., Pitto, L. & Santorelli, F. M., Aug 12 2016, In : Biochemical and Biophysical Research Communications. 477, 1, p. 137-143 7 p.

Research output: Contribution to journalArticle

Dystroglycans
Zebrafish
Muscle
Muscles
Genes
3 Citations (Scopus)

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan

Marchese, M., Pappalardo, A., Baldacci, J., Verri, T., Doccini, S., Cassandrini, D., Bruno, C., Fiorillo, C., Garcia-Gil, M., Bertini, E., Pitto, L. & Santorelli, F. M., Aug 12 2016, In : Biochemical and Biophysical Research Communications. 477, 1, p. 137-143 7 p.

Research output: Contribution to journalArticle

Dystroglycans
Zebrafish
Muscle
Muscles
Genes