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

  • 20 Similar Profiles
Mutation Medicine & Life Sciences
Leukoencephalopathies Medicine & Life Sciences
Exome Medicine & Life Sciences
Mitochondrial Diseases Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Proto-Oncogene Proteins c-sis Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 2015 2019

  • 422 Citations
  • 11 h-Index
  • 27 Article

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles
3 Citations (Scopus)

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles
Mitochondrial Myopathies
Ataxia
Retinal Dystrophies
Microphthalmos
Exome

New missense variants of NDUFA11 associated with late-onset myopathy

Peverelli, L., Legati, A., Lamantea, E., Nasca, A., Lerario, A., Galimberti, V., Ghezzi, D. & Lamperti, C., Jan 1 2019, In : Muscle and Nerve. 60, 2, p. E11-E14

Research output: Contribution to journalArticle

2 Citations (Scopus)

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

Invernizzi, F., Zorzi, G., Legati, A., Coppola, G., D'Adamo, P., Nardocci, N., Garavaglia, B. & Ghezzi, D., Oct 1 2018, In : European Journal of Medical Genetics. 61, 10, p. 581-584 4 p.

Research output: Contribution to journalArticle

Chorea
Haploinsufficiency
Hypothyroidism
Nervous System Diseases
Point Mutation