Vincenzo Leuzzi | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Fenotipo epilettico e gestione terapeutica in un paziente con deficit di succinico semialdeide deidrogenasi: evoluzione dall’ infanzia all’ età adulta	Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2024	2024
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome	ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY	2024
A Systematic Review on Autism and Hyperserotonemia: State-of-the-Art, Limitations, and Future Directions	BRAIN SCIENCES	2024
New findings about neuropathological outcomes in the PKU mouse throughout lifespan	MOLECULAR GENETICS AND METABOLISM	2024
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes	MOVEMENT DISORDERS CLINICAL PRACTICE	2024
Biallelic variants of MRPS36 cause a new form of Leigh syndrome	MOVEMENT DISORDERS	2024
Impaired arterial dilation and increased NOX2 generated oxidative stress in subjects with ataxia-telangiectasia mutated (ATM) kinase	REDOX BIOLOGY	2024
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome	EUROPEAN JOURNAL OF HUMAN GENETICS	2024
Disturbo del neurosviluppo e parkinsonismo-distonia ad esordio tardivo nel deficit di DNAJC12	30° Congresso Nazionale SINPIA, 3° Convegno Nazionale degli Specializzandi in Neuropsichiatria Infantile	2024
Psychogenic non-epileptic seizures and functional motor disorders in developmental age: A comparison of clinical and psychopathological features	EPILEPSY & BEHAVIOR	2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism	GENES	2023
Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene	MOVEMENT DISORDERS CLINICAL PRACTICE	2023
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review	MOLECULAR GENETICS AND METABOLISM	2023
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans	FRONTIERS IN MOLECULAR NEUROSCIENCE	2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism	JOURNAL OF INHERITED METABOLIC DISEASE	2023
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria	MOLECULAR GENETICS AND METABOLISM	2023
Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient	MOVEMENT DISORDERS CLINICAL PRACTICE	2023
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

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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