• 22013 Citations
  • 74 h-Index
1978 …2019
If you made any changes in Pure these will be visible here soon.

Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 73 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Muscles Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Spinal Muscular Atrophy Medicine & Life Sciences
Ataxia Medicine & Life Sciences

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

Research Output 1978 2019

Nuclear Pore Complex Proteins
Ataxia
Nuclear Pore
Exome
Nuclear Envelope

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 othersLamperti, 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

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 othersLamperti, 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

Diagnosis of 'possible' mitochondrial disease: an existential crisis

Parikh, S., Karaa, A., Goldstein, A., Bertini, E. S., Chinnery, P. F., Christodoulou, J., Cohen, B. H., Davis, R. L., Falk, M. J., Fratter, C., Horvath, R., Koenig, M. K., Mancuso, M., McCormack, S., McCormick, E. M., McFarland, R., Nesbitt, V., Schiff, M., Steele, H., Stockler, S. & 5 othersSue, C., Tarnopolsky, M., Thorburn, D. R., Vockley, J. & Rahman, S., Mar 2019, In : Journal of Medical Genetics. 56, 3, p. 123-130 8 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Inborn Genetic Diseases
Patient Harm
Anxiety
Phenotype