Enrico Silvio Bertini

78PUBLICATIONS
485CO-AUTHORS
Gene mappingCell and nuclear divisionNeurology and neuromuscular diseasesNeurogeneticsMedical biochemistry - proteins and peptides (incl. medical proteomics)
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Publications (78)

|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

|Feb 16, 2026
Nusinersen rescues taurine deficiency in patients with type 1 Spinal Muscular Atrophy.

Raffaella di Vito, Amber Hassan, Tommaso Nuzzo

|Jan 19, 2026
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.

Carla Damiano, Antonietta Tarallo, Vincenza Gragnaniello

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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