• 8291 Citations
  • 52 h-Index
1977 …2019
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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.

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Mutation Medicine & Life Sciences
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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
Inborn Genetic Diseases
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

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

SYNAPS Study Group, 2019, In : Brain. 142, 10, p. 2948-2964 17 p.

Research output: Contribution to journalArticle

3 Citations (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
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