Vincenzo Leuzzi | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia	MOLECULAR AND CELLULAR BIOCHEMISTRY	2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies	AMERICAN JOURNAL OF HUMAN GENETICS	2017
Levodopa-Carbidopa Intestinal Gel in a Pediatric Parkinsonism-plus Syndrome	MOVEMENT DISORDERS CLINICAL PRACTICE	2017
Psychiatric disorders in adolescent and young adult patients with phenylketonuria	MOLECULAR GENETICS AND METABOLISM	2016
Erythrocyte-mediated delivery of recombinant enzymes	JOURNAL OF INHERITED METABOLIC DISEASE	2016
Attentional dysfunctions in Ataxia-teleangectasia: a psychophysiological study		2016
Epilepsy in kcnh1-related syndromes	EPILEPTIC DISORDERS	2016
Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type b	NEUROLOGY	2016
A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging.	HUMAN MOLECULAR GENETICS	2016
Cognitive, adaptive, and behavioral features in Joubert syndrome	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2016
Development of global rating instruments for pediatric patients with ataxia telangiectasia	EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY	2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy	AMERICAN JOURNAL OF HUMAN GENETICS	2016
Vulnerability and resilience to phenylalanine in PKU patients.	JOURNAL OF INHERITED METABOLIC DISEASE	2016
Abnormal CSF phenylalanine level in patients presenting with disordersof tetrahydrobiopterin (BH4) metabolism with hyperphenylalaninemia	JOURNAL OF INHERITED METABOLIC DISEASE	2016
Expanded phenotype in creatine transporter deficiency: identification of two novel mutations correlated with mild clinical presentation	JOURNAL OF INHERITED METABOLIC DISEASE	2016
Aromatic L-Amino Acid Decarboxylase (AADC) deficiency in a child with an early myopathic onset	JOURNAL OF INHERITED METABOLIC DISEASE	2016
Secondary pterins alteration in patients with phenylalanine hydroxylase deficit	JOURNAL OF INHERITED METABOLIC DISEASE	2016
Safety and efficacy of Rotigotine in 7 patients with monoaminergic neurotransmitter deficiency	JOURNAL OF INHERITED METABOLIC DISEASE	2016
2 siblings with a new genotype of GAMT deficiency and response to sodium benzoate therapy	JOURNAL OF INHERITED METABOLIC DISEASE	2016
Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase	JOURNAL OF INHERITED METABOLIC DISEASE	2016

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