• 8081 Citations
  • 50 h-Index
1977 …2019
If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Carlo Minetti is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 54 Similar Profiles
Mutation Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Muscles Medicine & Life Sciences
Caveolin 3 Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Genes Medicine & Life Sciences
Dystrophin Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences

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

Research Output 1977 2019

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy

Scala, M., Amadori, E., Fusco, L., Marchese, F., Capra, V., Minetti, C., Vari, M. S. & Striano, P., May 24 2019, In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

Brain Diseases
Circadian Rhythm
Sleep
Crying
Inborn Genetic Diseases

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
1 Citation (Scopus)

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Deciphering Developmental Disorders Study & SYNAPS Study Group, Apr 4 2019, In : American Journal of Human Genetics. 104, 4, p. 721-730 10 p.

Research output: Contribution to journalArticle

Open Access
Vesicle-Associated Membrane Protein 2
SNARE Proteins
Synaptic Membranes
Membrane Fusion
Mutation
Mutation
Muscles
Distal Myopathies
Biopsy
Ubiquitin-Protein Ligases