Vincenzo Leuzzi | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing	CEREBELLUM	2021
NGS in hereditay ataxia: when rare becomes frequent	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2021
Functional neurological disorders in childhood and adolescence: Epidemiology and phenomenology of an emerging diagnostic and clinical challenge	EUROPEAN PSYCHIATRY	2021
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance	HUMAN MUTATION	2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus	BRAIN	2021
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness	BRAIN	2021
Genetic neonatal-onset epilepsies and developmental/epileptic encephalopathies with movement disorders: A systematic review	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2021
Protenuria in SLE:. is it always lupus	LUPUS	2021
Una bambina con encefalopatia epilettica e dello sviluppo: un ruolo patogenetico per il gene PRMT8?	Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2021	2021
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism	PARKINSONISM & RELATED DISORDERS	2020
Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria	MOLECULAR GENETICS AND METABOLISM REPORTS	2020
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male	MOLECULAR GENETICS AND METABOLISM REPORTS	2020
Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features	MOVEMENT DISORDERS CLINICAL PRACTICE	2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients	JOURNAL OF INHERITED METABOLIC DISEASE	2020
The expanding spectrum of movement disorders in genetic epilepsies	DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY	2020
Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: The challenge for the future guidelines	JOURNAL OF MEDICAL GENETICS	2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthasedeficient patients	MOLECULAR GENETICS AND METABOLISM	2020
The Genetic Landscape and Epidemiology of Phenylketonuria	AMERICAN JOURNAL OF HUMAN GENETICS	2020
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2020
KCNQ2 encephalopathy manifesting with Rett-like features A follow-up into adulthood	NEUROLOGY. GENETICS	2020

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