Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review

by Carlotta Spagnoli, Carlo Fusco, Antonio Percesepe, Vincenzo Leuzzi, Francesco Pisani
Published 2021-04-01

<i>KCND3</i>-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes

by Luca Pollini, Serena Galosi, Manuela Tolve, Caterina Caputi, Carla Carducci, Antonio Angeloni, Vincenzo Leuzzi
Published 2020-08-01

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

by Carlo Fusco, Vincenzo Leuzzi, Pasquale Striano, Roberta Battini, Alberto Burlina, the Delphi panel experts’ group, Carlotta Spagnoli
Published 2021-01-01

Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

by Luca Pollini, Manuela Tolve, Francesca Nardecchia, Serena Galosi, Claudia Carducci, Emanuele di Carlo, Carla Carducci, Vincenzo Leuzzi
Published 2020-03-01

Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria

by Barbara Trimarco, Filippo Manti, Francesca Nardecchia, Sergio Melogno, Mara Testa, Giovanni Meledandri, Claudia Carducci, Roberta Penge, Vincenzo Leuzzi
Published 2020-06-01

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis

by Mario Mastrangelo, Chiara Alfonsi, Isabella Screpanti, Laura Masuelli, Barbara Tavazzi, Davide Mei, Flavia Giannotti, Renzo Guerrini, Vincenzo Leuzzi
Published 2019-12-01

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

by Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati, Barbara Garavaglia, Daniele Ghezzi, Daniele Ghezzi, Vincenzo Leuzzi
Published 2018-12-01

Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency

by Luigia Rossi, Francesca Nardecchia, Francesca Pierigè, Rossella Ventura, Claudia Carducci, Vincenzo Leuzzi, Mauro Magnani, Simona Cabib, Tiziana Pascucci
Published 2021-08-01

Creatine Levels in Patients with Phenylketonuria and Mild Hyperphenylalaninemia: A Pilot Study

by Elvira Verduci, Maria Teresa Carbone, Laura Fiori, Claudia Gualdi, Giuseppe Banderali, Claudia Carducci, Vincenzo Leuzzi, Giacomo Biasucci, Gian Vincenzo Zuccotti
Published 2021-05-01

A novel mouse model of creatine transporter deficiency [v1; ref status: indexed, http://f1000r.es/4f8]

by Laura Baroncelli, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Cornelius Gross, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso
Published 2014-09-01

Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples

by Cristina Romani, Filippo Manti, Francesca Nardecchia, Federica Valentini, Nicoletta Fallarino, Claudia Carducci, Sabrina De Leo, Anita MacDonald, Liana Palermo, Vincenzo Leuzzi
Published 2020-10-01

Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels

by Cristina Romani, Filippo Manti, Francesca Nardecchia, Federica Valentini, Nicoletta Fallarino, Claudia Carducci, Sabrina De Leo, Anita MacDonald, Liana Palermo, Vincenzo Leuzzi
Published 2019-11-01

Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia.

by Tiziana Pascucci, Giacomo Giacovazzo, Diego Andolina, Alessandra Accoto, Elena Fiori, Rossella Ventura, Cristina Orsini, David Conversi, Claudia Carducci, Vincenzo Leuzzi, Stefano Puglisi-Allegra
Published 2013-01-01

A novel mouse model of creatine transporter deficiency [v2; ref status: indexed, http://f1000r.es/4zb]

by Laura Baroncelli, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Francesca Zonfrillo, Cornelius Gross, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso
Published 2015-01-01

ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T

by Michele Menotta, Sara Biagiotti, Chiara Spapperi, Sara Orazi, Luigia Rossi, Luciana Chessa, Vincenzo Leuzzi, Daniela D’Agnano, Annarosa Soresina, Roberto Micheli, Mauro Magnani
Published 2017-07-01

Living with phenylketonuria in adulthood: The PKU ATTITUDE study

by Chiara Cazzorla, Giulia Bensi, Giacomo Biasucci, Vincenzo Leuzzi, Filippo Manti, Antonella Musumeci, Francesco Papadia, Vera Stoppioni, Albina Tummolo, Marcella Vendemiale, Giulia Polo, Alberto Burlina
Published 2018-09-01

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)

by Martino L. di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci, Davide Mei, Martino Montomoli, Angela Tramonti, Renzo Guerrini, Roberto Contestabile, Vincenzo Leuzzi
Published 2017-12-01

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label...

by Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch
Published 2021-08-01

Targeting mGlu5 Metabotropic Glutamate Receptors in the Treatment of Cognitive Dysfunction in a Mouse Model of Phenylketonuria

by Francesca Nardecchia, Francesca Nardecchia, Rosamaria Orlando, Luisa Iacovelli, Marco Colamartino, Elena Fiori, Vincenzo Leuzzi, Sonia Piccinin, Sonia Piccinin, Robert Nistico, Stefano Puglisi-Allegra, Stefano Puglisi-Allegra, Luisa Di Menna, Giuseppe Battaglia, Ferdinando Nicoletti, Ferdinando Nicoletti, Tiziana Pascucci, Tiziana Pascucci
Published 2018-03-01

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

by Danique van Vliet, Annemiek M.J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Kari Casas, Bozena Didycz, Maja Djordjevic, Jozef L. Hertecant, Vincenzo Leuzzi, Per Mathisen, Francesca Nardecchia, Kimberly K. Powell, Frank Rutsch, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Published 2019-10-01