• 1134 Citations
  • 18 h-Index
19962019
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Fingerprint Dive into the research topics where Marina Pedemonte is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 62 Similar Profiles
Mutation Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Muscles Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Myosin Heavy Chains Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Cofilin 2 Medicine & Life Sciences
Myotonia Congenita Medicine & Life Sciences

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Research Output 1996 2019

  • 1134 Citations
  • 18 h-Index
  • 61 Article
  • 1 Editorial

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access
AMPA Receptors
mutations
disabilities
Brain Diseases
disorders

A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1” written by pechmann and colleagues”

Sansone, V. A., Pane, M., Messina, S., Bruno, C., D'Amico, A., Albamonte, E., Catteruccia, M., Sframeli, M., Pedemonte, M., Vita, G., Bertini, E., Mercuri, E., Leone, D., de Sanctis, R., Forcina, N., Piastra, M., Genovese, O., Pedicelli, A., Versaci, A., Rulli, I. & 30 others, Gitto, E., Faraone, C., La Foresta, S., Macrì, M., Colia, G., Bonetti, A. M., Carlesi, A., Cutrera, R., Chiarini, M. B., Ferretti, M., Garaventa, A., Montobbio, G., Gandolfo, C., Iurilli, V., Tacchetti, P., Bobeica, E., D'Agostino, A., Pirola, A., Lupone, S., De Mattia, E., Falcier, E., Rao, F., Casiraghi, J., Salmin, F., Grandi, C., Fedeli, F., Mancini, L., Stoia, P., Heinen, M. & Cozzi, V., 2018, In : European Journal of Paediatric Neurology. 22, 4, p. 729-731 3 p.

Research output: Contribution to journalArticle

An observational study of functional abilities in infants, children, and adults with type 1 SMA

Pane, M., Palermo, C., Messina, S., Sansone, V. A., Bruno, C., Catteruccia, M., Sframeli, M., Albamonte, E., Pedemonte, M., D'Amico, A., Brigati, G., De Sanctis, R., Coratti, G., Lucibello, S., Bertini, E., Vita, G., Tiziano, F. D. & Mercuri, E., 2018, In : Neurology. 91, 8, p. e696-e703

Research output: Contribution to journalArticle

An observational study of functional abilities in infants, children, and adults with type 1 SMA

Italian EAP working Group, Aug 21 2018, In : Neurology. 91, 8, p. e696-e703 8 p.

Research output: Contribution to journalArticle

Observational Studies
Tracheostomy
Phenotype
Spinal Muscular Atrophies of Childhood
Noninvasive Ventilation