Mario Mastrangelo

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

  • LS4

Interessi di ricerca

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

Keywords

epilepsy
clinical neurology
Children.

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