• 1157 Citations
  • 18 h-Index
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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.

  • 53 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

  • 1157 Citations
  • 18 h-Index
  • 62 Article
  • 1 Editorial
1 Citation (Scopus)

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
Brain Diseases
1 Citation (Scopus)

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Scala, M., Brigati, G., Fiorillo, C., Nesti, C., Rubegni, A., Pedemonte, M., Bruno, C., Severino, M., Derchi, M., Minetti, C. & Santorelli, F. M., Aug 7 2019, In : Neurogenetics. 20, 3, p. 165-172 8 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Sensorineural Hearing Loss
Leigh Disease
Brain Diseases
Electron Transport

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

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

Research output: Contribution to journalArticle

Observational Studies
Spinal Muscular Atrophies of Childhood
Noninvasive Ventilation