Enrico Silvio Bertini

81PUBLICATIONS
495CO-AUTHORS
Neurology and neuromuscular diseasesInfant and child healthLiquid biopsiesGene mappingCell and nuclear division
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Publications (81)

|Nov 05, 2026
Dysregulation of dopamine metabolism in children with spinal muscular atrophy type 1.

|Oct 02, 2026
Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

|Sep 21, 2026
Effects of combined nutritional interventions on the natural history of X-linked adrenoleukodystrophy in female carriers.

|Jun 26, 2026
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

|May 25, 2026
Compound Heterozygous COA7 Variants Presenting With Childhood-Onset Axonal Neuropathy in 2 Siblings.

|Apr 02, 2026
Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

Alessandra Torraco, Charlotte L Alston, Giulia Barcia

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Frequent Collaborators

9 joint publications

Enza Maria Valente

9 joint publications

Rosalba Carrozzo

9 joint publications

Adele D'Amico

8 joint publications

Francesco Nicita