Vincenzo Leuzzi | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Other single-gene disorders	The causes of epilepsy common and uncommon causes in adults and children	2019
Clinical characterization of tremor in patients with phenylketonuria	MOLECULAR GENETICS AND METABOLISM	2019
A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study	SCIENTIFIC REPORTS	2019
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels	ORPHANET JOURNAL OF RARE DISEASES	2019
Untreated PKU patients without intellectual disability: What do they teach us?	NUTRIENTS	2019
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis	MOLECULAR GENETICS AND METABOLISM REPORTS	2019
A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3	PARKINSONISM & RELATED DISORDERS	2019
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review	PARKINSONISM & RELATED DISORDERS	2019
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)	CEREBELLUM	2019
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study	MOVEMENT DISORDERS	2019
Newborn screening for homocystinurias: Recent recommendations versus current practice	JOURNAL OF INHERITED METABOLIC DISEASE	2019
Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142]	MOLECULAR GENETICS AND METABOLISM	2018
Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria	FRONTIERS IN NEUROSCIENCE	2018
A new therapy prevents intellectual disability in mouse with phenylketonuria	MOLECULAR GENETICS AND METABOLISM	2018
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.	METABOLIC BRAIN DISEASE	2018
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test	METHODS AND PROTOCOLS	2018
Can untreated PKU patients escape from intellectual disability? A systematic review	ORPHANET JOURNAL OF RARE DISEASES	2018
Living with phenylketonuria in adulthood: the PKU ATTITUDE study	MOLECULAR GENETICS AND METABOLISM REPORTS	2018
Successful pregnancy in a patient with l-amino acid decarboxylase deficiency. therapeutic management and clinical outcome	MOVEMENT DISORDERS CLINICAL PRACTICE	2018
Ap1s2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency	ACTA PAEDIATRICA	2018

Progetti di Ricerca

Study of brain vulnerability to phenylalanine in adults with early-treated phenylketonuria: assessment of executive functions and cerebral connectivity with respect to blood and brain phenylalanine
Study of serotoninergic system in phenylketonuria: insights from the ENU2 mouse model and early treated patients

Gruppi di ricerca - Responsabile

Piattaforma interattiva “Moduli Rosa” – Formazione e-learning specialistica per tutte le professionalità che a vario titolo entrano in contatto con i minori vittime di violenza assistita o con i minori orfani di crimini domestici