Vincenzo Leuzzi | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease	GENES	2023
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants	FRONTIERS IN NEUROLOGY	2023
Estensione del fenotipo epilettico nel deficit di diidropteridina reduttasi (DHPR): una paziente con pattern tipo Lennox-Gastaut e stato di male epilettico focale dopo stroke metabolico	Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2023	2023
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments	PARKINSONISM & RELATED DISORDERS	2023
Metabolic control and clinical outcome in adolescents with phenylketonuria	MOLECULAR GENETICS AND METABOLISM	2023
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum	MOVEMENT DISORDERS	2023
Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation	NEUROBIOLOGY OF DISEASE	2023
Looking back at the neonatal period in early-treated phenylketonuric patients	PEDIATRIC RESEARCH	2022
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations	JOURNAL OF NEUROLOGY	2022
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia	HUMAN MOLECULAR GENETICS ONLINE	2022
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2022
Engineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatine	MOLECULAR THERAPY. METHODS & CLINICAL DEVELOPMENT	2022
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2022
Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications	MOLECULAR GENETICS AND METABOLISM	2022
PRICKLE1-Related Disorders	GENEREVIEWS	2022
PHENOTYIPING AND DIAGNOSTIC TIMING IN NGS-DIAGNOSED GENETIC DEVELOPMENTAL ENCEPHALOPATHIES WITH EPILEPSY AND MOVEMENT DISORDERS	14th European Paediatric Neurology Society Congress	2022
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders	JOURNAL OF NEURAL TRANSMISSION	2022
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency	PARKINSONISM & RELATED DISORDERS	2022
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.	FRONTIERS IN NEUROLOGY	2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease	GENETICS IN MEDICINE	2022

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