Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

Por Zollino, Marcella, Gurrieri, Fiorella, Orteschi, Daniela, Marangi, Giuseppe, Leuzzi, Vincenzo, Neri, Giovanni
Publicado em 2011

Sleep Spindle Activity Is Correlated With Reading Abilities in Developmental Dyslexia

Por Bruni, Oliviero, Ferri, Raffaele, Novelli, Luana, Terribili, Monica, Troianiello, Miriam, Finotti, Elena, Leuzzi, Vincenzo, Curatolo, Paolo
Publicado em 2009

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

Por Marangi, Giuseppe, Leuzzi, Vincenzo, Manti, Filippo, Lattante, Serena, Orteschi, Daniela, Pecile, Vanna, Neri, Giovanni, Zollino, Marcella
Publicado em 2013

Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease

Por Leuzzi, Vincenzo, Carducci, Claudia, Chiarotti, Flavia, D’Agnano, Daniela, Giannini, Maria Teresa, Antonozzi, Italo, Carducci, Carla
Publicado em 2012

Age-Related Psychophysiological Vulnerability to Phenylalanine in Phenylketonuria

Por Leuzzi, Vincenzo, Mannarelli, Daniela, Manti, Filippo, Pauletti, Caterina, Locuratolo, Nicoletta, Carducci, Carla, Carducci, Claudia, Vanacore, Nicola, Fattapposta, Francesco
Publicado em 2014

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency

Por Chilosi Annamaria, Casarano Manuela, Comparini Alessandro, Battaglia Francesca, Mancardi Margherita, Schiaffino Cristina, Tosetti Michela, Leuzzi Vincenzo, Battini Roberta, Cioni Giovanni
Publicado em 2012-06-01

A novel mouse model of creatine transporter deficiency

Por Baroncelli, Laura, Alessandrì, Maria Grazia, Tola, Jonida, Putignano, Elena, Migliore, Martina, Amendola, Elena, Gross, Cornelius, Leuzzi, Vincenzo, Cioni, Giovanni, Pizzorusso, Tommaso
Publicado no F1000Res (2014)

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency

Por Chilosi, Annamaria, Casarano, Manuela, Comparini, Alessandro, Battaglia, Francesca Maria, Mancardi, Margherita Maria, Schiaffino, Cristina, Tosetti, Michela, Leuzzi, Vincenzo, Battini, Roberta, Cioni, Giovanni
Publicado em 2012

Behavioral and Neurochemical Characterization of New Mouse Model of Hyperphenylalaninemia

Por Pascucci, Tiziana, Giacovazzo, Giacomo, Andolina, Diego, Accoto, Alessandra, Fiori, Elena, Ventura, Rossella, Orsini, Cristina, Conversi, David, Carducci, Claudia, Leuzzi, Vincenzo, Puglisi-Allegra, Stefano
Publicado em 2013

In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited di...

Por Carducci Claudia, Carducci Carla, Santagata Silvia, Adriano Enrico, Artiola Cristiana, Thellung Stefano, Gatta Elena, Robello Mauro, Florio Tullio, Antonozzi Italo, Leuzzi Vincenzo, Balestrino Maurizio
Publicado em 2012-04-01

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

Por Calì, Francesco, Ruggeri, Giuseppa, Vinci, Mirella, Meli, Concetta, Carducci, Carla, Leuzzi, Vincenzo, Pozzessere, Simone, Schinocca, Pietro, Ragalmuto, Alda, Chiavetta, Valeria, Miccichè, Salvatore, Romano, Valentino
Publicado em 2010

In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited di...

Por Carducci, Claudia, Carducci, Carla, Santagata, Silvia, Adriano, Enrico, Artiola, Cristiana, Thellung, Stefano, Gatta, Elena, Robello, Mauro, Florio, Tullio, Antonozzi, Italo, Leuzzi, Vincenzo, Balestrino, Maurizio
Publicado em 2012

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia

Por Leuzzi, Vincenzo, Micheli, Roberto, D'Agnano, Daniela, Molinaro, Anna, Venturi, Tullia, Plebani, Alessandro, Soresina, Annarosa, Marini, Mirella, Ferremi Leali, Pierino, Quinti, Isabella, Pietrogrande, Maria C., Finocchi, Andrea, Fazzi, Elisa, Chessa, Luciana, Magnani, Mauro
Publicado no Neurol Neuroimmunol Neuroinflamm (2015)

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

Por Cafiero, Concetta, Marangi, Giuseppe, Orteschi, Daniela, Ali, Marwan, Asaro, Alessia, Ponzi, Emanuela, Moncada, Alice, Ricciardi, Stefania, Murdolo, Marina, Mancano, Giorgia, Contaldo, Ilaria, Leuzzi, Vincenzo, Battaglia, Domenica, Mercuri, Eugenio, Slavotinek, Anne M, Zollino, Marcella
Publicado no Eur J Hum Genet (2015)

Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

Por Leuzzi, Vincenzo, Mastrangelo, Mario, Polizzi, Agata, Artiola, Cristiana, van Kuilenburg, André B. P., Carducci, Carla, Ruggieri, Martino, Barone, Rita, Tavazzi, Barbara, Abeling, Nico G. G. M., Zoetekouw, Lida, Sofia, Vito, Zappia, Mario, Carducci, Claudia
Publicado no JIMD Rep (2014)

Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees

Por Carelli, Valerio, Achilli, Alessandro, Valentino, Maria Lucia, Rengo, Chiara, Semino, Ornella, Pala, Maria, Olivieri, Anna, Mattiazzi, Marina, Pallotti, Francesco, Carrara, Franco, Zeviani, Massimo, Leuzzi, Vincenzo, Carducci, Carla, Valle, Giorgio, Simionati, Barbara, Mendieta, Luana, Salomao, Solange, Belfort, Rubens, Sadun, Alfredo A., Torroni, Antonio
Publicado em 2006

Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial

Por Chessa, Luciana, Leuzzi, Vincenzo, Plebani, Alessandro, Soresina, Annarosa, Micheli, Roberto, D’Agnano, Daniela, Venturi, Tullia, Molinaro, Anna, Fazzi, Elisa, Marini, Mirella, Ferremi Leali, Pierino, Quinti, Isabella, Cavaliere, Filomena Monica, Girelli, Gabriella, Pietrogrande, Maria Cristina, Finocchi, Andrea, Tabolli, Stefano, Abeni, Damiano, Magnani, Mauro
Publicado em 2014

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

Por Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, De Laet, Corinne, Leuzzi, Vincenzo, Rutsch, Frank, Sivri, H. Serap, Vijay, Suresh, Bal, Milva Orquidea, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelie S., Munafo, Alain, Mould, Diane R., Moreau-Stucker, Flavie, Rogoff, Daniela
Publicado no Orphanet J Rare Dis (2017)

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Por Chong, Jessica X., Caputo, Viviana, Phelps, Ian G., Stella, Lorenzo, Worgan, Lisa, Dempsey, Jennifer C., Nguyen, Alina, Leuzzi, Vincenzo, Webster, Richard, Pizzuti, Antonio, Marvin, Colby T., Ishak, Gisele E., Ardern-Holmes, Simone, Richmond, Zara, Bamshad, Michael J., Ortiz-Gonzalez, Xilma R., Tartaglia, Marco, Chopra, Maya, Doherty, Dan
Publicado no Am J Hum Genet (2016)

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

Por Danti, Federica Rachele, Galosi, Serena, Romani, Marta, Montomoli, Martino, Carss, Keren J., Raymond, F. Lucy, Parrini, Elena, Bianchini, Claudia, McShane, Tony, Dale, Russell C., Mohammad, Shekeeb S., Shah, Ubaid, Mahant, Neil, Ng, Joanne, McTague, Amy, Samanta, Rajib, Vadlamani, Gayatri, Valente, Enza Maria, Leuzzi, Vincenzo, Kurian, Manju A., Guerrini, Renzo
Publicado no Neurol Genet (2017)