Vincenzo Leuzzi | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients	JOURNAL OF INHERITED METABOLIC DISEASE	2021
Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes	PARKINSONISM & RELATED DISORDERS	2021
TSC1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Child with a Mild Phenotype of Tuberous Sclerosis	NEUROPEDIATRICS	2021
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus	THE ITALIAN JOURNAL OF PEDIATRICS	2021
“Protenuria in SLE: Is it always lupus?”	LUPUS	2021
Novel unconventional variants expand the allelic spectrum of OPHN1 gene	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2021
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts	JOURNAL OF NEUROLOGY	2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria	BRAIN	2021
A NGS-based analysis on a large cohort of ataxic patients refines the clinical spectrum associated with SCA21	EUROPEAN JOURNAL OF NEUROLOGY	2021
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries	MOLECULAR GENETICS AND METABOLISM	2021
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study	JOURNAL OF MEDICAL GENETICS	2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry	JOURNAL OF INHERITED METABOLIC DISEASE	2021
Intellectual disability and brain creatine deficit: Phenotyping of the genetic mouse model for GAMT deficiency	GENES	2021
Acute ischemic stroke in childhood: a comprehensive review	EUROPEAN JOURNAL OF PEDIATRICS	2021
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins	MOLECULAR GENETICS AND METABOLISM	2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines	NATURE COMMUNICATIONS	2021
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile	CLINICAL EPIGENETICS	2021
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum	JOURNAL OF MEDICAL GENETICS	2021
Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency	JOURNAL OF CHROMATOGRAPHY. B	2021
Neurodevelopmental Disorder and Late‐Onset Degenerative Parkinsonism in a Patient with a WDR45 Defect	MOVEMENT DISORDERS CLINICAL PRACTICE	2021

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