• 7527 Citations
  • 45 h-Index
1993 …2019
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Fingerprint Dive into the research topics where Claudio Bruno is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 30 Similar Profiles
Mutation Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Muscles Medicine & Life Sciences
Genes Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Glycogen Storage Disease Type V Medicine & Life Sciences
Mitochondrial DNA Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences

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Research Output 1993 2019

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
mutations
disabilities
Brain Diseases
disorders

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, Aug 1 2019, In : PLoS One. 14, 7, p. e0220714

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, 2019, In : PLoS One. 14, 6, p. e0218683

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

Brogna, C., Coratti, G., Pane, M., Ricotti, V., Messina, S., D’Amico, A., Bruno, C., Vita, G., Berardinelli, A., Mazzone, E., Magri, F., Ricci, F., Mongini, T., Battini, R., Bello, L., Pegoraro, E., Baranello, G., Previtali, S. C., Politano, L., Comi, G. P. & 6 others, Sansone, V. A., Donati, A., Bertini, E., Muntoni, F., Goemans, N. & Mercuri, E., 2019, In : PLoS One. 14, 6, e0218683.

Research output: Contribution to journalArticle

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