Mario Mastrangelo | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines	NATURE COMMUNICATIONS	2021
Contemporary onset of atypical chronic inflammatory demyelinating polyradiculoneuropathy and type 1 diabetes in an adolescent	DIABETIC MEDICINE	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
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients	JOURNAL OF INHERITED METABOLIC DISEASE	2020
KCNQ2 encephalopathy manifesting with Rett-like features A follow-up into adulthood	NEUROLOGY. GENETICS	2020
Laparoscopic patch repair of a Morgagni hernia in Menkes disease	ASIAN JOURNAL OF ENDOSCOPIC SURGERY	2020
Erratum: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (Orphanet Journal of Rare Diseases (2020) 15: 126 DOI: 10.1186/s13023-020-01379-8)	ORPHANET JOURNAL OF RARE DISEASES	2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies	ORPHANET JOURNAL OF RARE DISEASES	2020
Towards an evidence-based treatment of pediatric status epilepticus: still a mountain to climb.	SEIZURE	2020
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)	JOURNAL OF PEDIATRIC GENETICS	2020
Encefalopatia epilettica correlata al gene KCNQ2: outcome a lungo termine in una paziente con 29 anni di follow-up	Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2020	2020
Epilepsy in children with type 1 diabetes mellitus: Pathophysiological basis and clinical hallmarks.	EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY	2019
Other single-gene disorders	The causes of epilepsy common and uncommon causes in adults and children	2019
Clinical approach to neurodegenerative disorders in childhood: an updated overview.	ACTA NEUROLOGICA BELGICA	2019
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis	MOLECULAR GENETICS AND METABOLISM REPORTS	2019
A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3	PARKINSONISM & RELATED DISORDERS	2019
Early Post-cooling Brain Magnetic Resonance for the Prediction of Neurodevelopmental Outcome in Newborns with Hypoxic-Ischemic Encephalopathy	JOURNAL OF PEDIATRIC NEUROSCIENCES	2019
Update on the treatment of vitamin B6 dependent epilepsies	EXPERT REVIEW OF NEUROTHERAPEUTICS	2019
Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142]	MOLECULAR GENETICS AND METABOLISM	2018
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.	METABOLIC BRAIN DISEASE	2018

ERC

Interessi di ricerca

Epilessie su base genetico-metabolica
Malattie neurogenetiche rare
Emergenze neurologiche Pediatriche

Keywords

epilepsy

clinical neurology

Children.