Enrico Silvio Bertini

78PUBLICATIONS

485CO-AUTHORS

Gene mappingCell and nuclear divisionGene and molecular therapyNeurology and neuromuscular diseasesNeurogenetics

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Publications (78)

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|Jun 26, 2026

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

|May 25, 2026

Compound Heterozygous <i>COA7</i> Variants Presenting With Childhood-Onset Axonal Neuropathy in 2 Siblings.

|Apr 23, 2026

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

|Apr 02, 2026

Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-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

|Feb 16, 2026

Nusinersen rescues taurine deficiency in patients with type 1 Spinal Muscular Atrophy.

Raffaella di Vito, Amber Hassan, Tommaso Nuzzo

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Frequent Collaborators

Rosalba Carrozzo

Adele D'Amico

Enza Maria Valente

Francesco Nicita

Marco Tartaglia

Eugenio Mercuri

Claudia Compagnucci

Fiorella Piemonte

Ginevra Zanni

Antonio Novelli

Frequent Collaborators

Rosalba Carrozzo

Adele D'Amico

Enza Maria Valente

Francesco Nicita