Enrico Silvio Bertini

80PUBLICATIONS
494CO-AUTHORS
Infant and child healthLiquid biopsiesGene mappingCell and nuclear divisionNeurology and neuromuscular diseases
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Publications (80)

|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

|Mar 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Daniel Greene, Rodrigo Mendez, Jon Lees

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Frequent Collaborators

9 joint publications

Rosalba Carrozzo

9 joint publications

Adele D'Amico

8 joint publications

Enza Maria Valente

8 joint publications

Francesco Nicita