• 4064 Citations
  • 35 h-Index
20002019
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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.

  • 44 Similar Profiles
Duchenne Muscular Dystrophy Medicine & Life Sciences
Mutation Medicine & Life Sciences
Muscles Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Myotonia Congenita Medicine & Life Sciences

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Research Output 2000 2019

  • 4064 Citations
  • 35 h-Index
  • 203 Article
  • 1 Conference contribution

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

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
ivabradine
Cardiomyopathies
Duchenne Muscular Dystrophy
Dilated Cardiomyopathy
Heart Rate

X-linked myotubular myopathy: A prospective international natural history study

Annoussamy, M., Lilien, C., Gidaro, T., Gargaun, E., Chê, V., Schara, U., Gangfuß, A., D'Amico, A., Dowling, J. J., Darras, B. T., Daron, A., Hernandez, A., de Lattre, C., Arnal, J-M., Mayer, M., Cuisset, J-M., Vuillerot, C., Fontaine, S., Bellance, R., Biancalana, V. & 4 othersBuj-Bello, A., Hogrel, J-Y., Landy, H. & Servais, L., Apr 16 2019, In : Neurology. 92, 16, p. e1852-e1867

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Natural History
Phenotype
Ventilation
Dependovirus