| Primary and secondary carnitine deficiency syndromes R Pons, DC De Vivo Journal of Child Neurology 10 (2_suppl), 2S8-2S24, 1995 | 284 | 1995 |
| 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 | 241 | 2017 |
| Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group J Klepper, C Akman, M Armeno, S Auvin, M Cervenka, HJ Cross, ... Epilepsia open 5 (3), 354-365, 2020 | 231 | 2020 |
| The spectrum of movement disorders in Glut‐1 deficiency R Pons, A Collins, M Rotstein, K Engelstad, DC De Vivo Movement disorders 25 (3), 275-281, 2010 | 192 | 2010 |
| Aromatic l-amino acid decarboxylase deficiency: Clinical features, treatment, and prognosis R Pons, B Ford, CA Chiriboga, PT Clayton, V Hinton, K Hyland, R Sharma, ... Neurology 62 (7), 1058-1065, 2004 | 189 | 2004 |
| Mitochondrial DNA abnormalities and autistic spectrum disorders R Pons, AL Andreu, N Checcarelli, MR Vilà, K Engelstad, CM Sue, ... The Journal of pediatrics 144 (1), 81-85, 2004 | 161 | 2004 |
| 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 | 133 | 2020 |
| Genetic mimics of cerebral palsy TS Pearson, R Pons, R Ghaoui, CM Sue Movement disorders 34 (5), 625-636, 2019 | 119 | 2019 |
| 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 | 93 | 2020 |
| ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients M Carecchio, NE Mencacci, A Iodice, R Pons, C Panteghini, G Zorzi, ... Parkinsonism & related disorders 41, 37-43, 2017 | 90 | 2017 |
| Molecular and functional analysis of SLC25A20 mutations causing carnitine‐acylcarnitine translocase deficiency V Iacobazzi, F Invernizzi, S Baratta, R Pons, W Chung, B Garavaglia, ... Human mutation 24 (4), 312-320, 2004 | 89 | 2004 |
| Neonatal blood carnitine concentrations: normative data by electrospray tandem mass spectometry DH Chace, R Pons, CA Chiriboga, DJ McMahon, I Tein, EW Naylor, ... Pediatric research 53 (5), 823-829, 2003 | 83 | 2003 |
| Mitochondrial myopathy simulating spinal muscular atrophy R Pons, F Andreetta, CH Wang, TH Vu, E Bonilla, S DiMauro, C Darryl Pediatric neurology 15 (2), 153-158, 1996 | 77 | 1996 |
| Levodopa‐induced dyskinesias in tyrosine hydroxylase deficiency R Pons, D Syrengelas, S Youroukos, I Orfanou, A Dinopoulos, B Cormand, ... Movement Disorders 28 (8), 1058-1063, 2013 | 75 | 2013 |
| Paroxysmal eye–head movements in Glut1 deficiency syndrome TS Pearson, R Pons, K Engelstad, SA Kane, ME Goldberg, DC De Vivo Neurology 88 (17), 1666-1673, 2017 | 68 | 2017 |
| The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency R Pons, M Roig, E Riudor, A Ribes, P Briones, L Ortigosa, A Baldellou, ... Pediatric neurology 14 (3), 236-243, 1996 | 66 | 1996 |
| Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion FM Santorelli, MA Barmada, R Pons, LL Zhang, S DiMauro Neurology 47 (5), 1320-1323, 1996 | 62 | 1996 |
| Deficient muscle carnitine transport in primary carnitine deficiency R Pons, R Carrozzo, I Tein, WF Walker, LJ Addonizio, W Rhead, ... Pediatric research 42 (5), 583-587, 1997 | 58 | 1997 |
| The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism R Pons Journal of inherited metabolic disease 32 (3), 321-332, 2009 | 56 | 2009 |
| 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 | 55 | 2016 |