Marco Tartaglia

Visual Function in Noonan and LEOPARD Syndrome

E. Mercuri, G. Zampino, F. Colitto, 2008, Neuropediatrics.

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

R. Carrozzo, T. Arzberger, C. La Morgia, 2024, American journal of human genetics.

Identification of the DNA methylation signature of Mowat-Wilson syndrome

G. Mandrile, B. Sadikovic, Lisa Pavinato, 2024, European journal of human genetics : EJHG.

Status epilepticus in BRAF‐related cardio‐facio‐cutaneous syndrome: Focus on neuroimaging clues to physiopathology

E. Musto, C. Leoni, G. Zampino, 2023, Epilepsia open.

Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes

C. Compagnucci, E. Ambrosini, L. Travaglini, 2024, Frontiers in cellular neuroscience.

Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons

C. Compagnucci, Fiorella Colasuonno, Chiara Marioli, 2024, Cell death discovery.

Fluorescent Labeling Can Significantly Perturb Measured Binding Affinity and Selectivity of Peptide-Protein Interactions.

F. Formaggio, G. Bocchinfuso, S. Bobone, 2024, The journal of physical chemistry letters.