Pubblicazioni

Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants

2023 - FRONTIERS IN NEUROLOGY

Cursio, Ida; Siliquini, Sabrina; Carducci, Claudia; Bisello, Giovanni; Mastrangelo, Mario; Leuzzi, Vincenzo; Bertoldi, Mariarita; Marini, Carla

Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus

2021 - THE ITALIAN JOURNAL OF PEDIATRICS

Fusco, C.; Leuzzi, V.; Striano, P.; Battini, R.; Burlina, A.; Belcastro, V.; Capodiferro, D.; Donati, M. A.; Gueraldi, D.; Manzoni, F.; Orsini, A.; Parisi, P.; Pisani, F.; Sacchini, M.; Spalice, A.; Verrotti di Pianella, A.; Viri, M.; Spagnoli, C.

Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins

2021 - MOLECULAR GENETICS AND METABOLISM

Longo, C.; Montioli, R.; Bisello, G.; Palazzi, L.; Mastrangelo, M.; Brennenstuhl, H.; de Laureto, P. P.; Opladen, T.; Leuzzi, V.; Bertoldi, M.

Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations

2018 - IUBMB LIFE

Montioli, Riccardo; Janson, Giacomo; Paiardini, Alessandro; Bertoldi, Mariarita; Borri Voltattorni, Carla

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

2017 - ORPHANET JOURNAL OF RARE DISEASES

Wassenberg, Tessa; Molero Luis, Marta; Jeltsch, Kathrin; Hoffmann, Georg F.; Assmann, Birgit; Blau, Nenad; Garcia Cazorla, Angeles; Artuch, Rafael; Pons, Roser; Pearson, Toni S.; Leuzzi, Vincenco; Mastrangelo, Mario; Pearl, Phillip L.; Lee, Wang Tso; Kurian, Manju A.; Heales, Simon; Flint, Lisa; Verbeek, Marcel; Willemsen, MichÃ¨l; Opladen, Thomas

The novel R347G pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency

2016 - BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Montioli, Riccardo; Paiardini, Alessandro; Kurian, Manju A.; Dindo, Mirco; Rossignoli, Giada; Heales, Simon J. R.; Pope, Simon; Voltattorni, Carla Borri; Bertoldi, Mariarita