| Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency T Wassenberg, M Molero-Luis, K Jeltsch, GF Hoffmann, B Assmann, ... Orphanet journal of rare diseases 12, 1-21, 2017 | 213 | 2017 |
| Genes of early-onset epileptic encephalopathies: from genotype to phenotype M Mastrangelo, V Leuzzi Pediatric neurology 46 (1), 24-31, 2012 | 139 | 2012 |
| New trends in neuronal migration disorders A Verrotti, A Spalice, F Ursitti, L Papetti, R Mariani, A Castronovo, ... european journal of paediatric neurology 14 (1), 1-12, 2010 | 107 | 2010 |
| Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies T Opladen, E López-Laso, E Cortès-Saladelafont, TS Pearson, HS Sivri, ... Orphanet journal of rare diseases 15, 1-30, 2020 | 105 | 2020 |
| Genetic background of febrile seizures A Saghazadeh, M Mastrangelo, N Rezaei Reviews in the Neurosciences 25 (1), 129-161, 2014 | 88 | 2014 |
| AADC deficiency from infancy to adulthood: symptoms and developmental outcome in an international cohort of 63 patients TS Pearson, L Gilbert, T Opladen, A Garcia‐Cazorla, M Mastrangelo, ... Journal of inherited metabolic disease 43 (5), 1121-1130, 2020 | 76 | 2020 |
| Inborn errors of creatine metabolism and epilepsy V Leuzzi, M Mastrangelo, R Battini, G Cioni Epilepsia 54 (2), 217-227, 2013 | 73 | 2013 |
| Lennox–Gastaut Syndrome: A State of the Art Review M Mastrangelo Neuropediatrics, IN PRESS, 2017 | 61 | 2017 |
| The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders T Opladen, E Cortès-Saladelafont, M Mastrangelo, G Horvath, R Pons, ... Molecular Genetics and Metabolism Reports 9, 61-66, 2016 | 53 | 2016 |
| Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding … V Leuzzi, M Mastrangelo, A Polizzi, C Artiola, ABP van Kuilenburg, ... JIMD Reports, Volume 15, 39-45, 2015 | 49 | 2015 |
| Actual insights into the clinical management of febrile seizures M Mastrangelo, F Midulla, C Moretti European journal of pediatrics 173, 977-982, 2014 | 49 | 2014 |
| ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria A Vetro, HN Nielsen, R Holm, RF Hevner, E Parrini, Z Powis, RS Møller, ... Brain 144 (5), 1435-1450, 2021 | 42 | 2021 |
| Epilepsy in KCNH1‐related syndromes M Mastrangelo, IE Scheffer, NC Bramswig, LDV Nair, CT Myers, ... Epileptic Disorders 18 (2), 123-136, 2016 | 41 | 2016 |
| Novel genes of early epileptic encephalopathies: from genotype to phenotypes M Mastrangelo Pediatric Neurology, 0887-8994(15)00173-3, 2015 | 40* | 2015 |
| Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C. 347g> A (P.· Arg116gln) mutation ML di Salvo, M Mastrangelo, I Nogués, M Tolve, A Paiardini, C Carducci, ... Molecular genetics and metabolism 122 (1-2), 135-142, 2017 | 39* | 2017 |
| A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies M Mastrangelo, A Celato, V Leuzzi european journal of paediatric neurology 16 (2), 179-191, 2012 | 35 | 2012 |
| The outcome of white matter abnormalities in early treated phenylketonuric patients: a retrospective longitudinal long-term study M Mastrangelo, F Chiarotti, L Berillo, C Caputi, C Carducci, C Di Biasi, ... Molecular genetics and metabolism 116 (3), 171-177, 2015 | 34 | 2015 |
| Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines O Kuseyri Hübschmann, G Horvath, E Cortès-Saladelafont, Y Yıldız, ... Nature communications 12 (1), 5529, 2021 | 33 | 2021 |
| Diagnostic work-up and therapeutic options in management of pediatric status epilepticus M Mastrangelo, A Celato World Journal of Pediatrics 8, 109-115, 2012 | 30 | 2012 |
| Eponym: rasmussen syndrome M Mastrangelo, R Mariani, A Menichella European journal of pediatrics 169, 919-924, 2010 | 27 | 2010 |
Renzo GuerriniProfessore di Neuropsichiatria Infantile, Università di FirenzeAdresse e-mail validée de meyer.it
