| A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay CB Santos-Rebouças, N Fintelman-Rodrigues, LR Jensen, AW Kuss, ... Neuroscience letters 498 (1), 67-71, 2011 | 65 | 2011 |
| The association of the fat mass and obesity-associated gene (FTO) rs9939609 polymorphism and the severe obesity in a Brazilian population ACP da Fonseca, GM Abreu, VM Zembrzuski, M Campos Junior, ... Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy, 667-684, 2019 | 39 | 2019 |
| A study of LRRK2 mutations and Parkinson's disease in Brazil MMG Pimentel, KCV Moura, CB Abdalla, JS Pereira, ALZ de Rosso, ... Neuroscience letters 433 (1), 17-21, 2008 | 38 | 2008 |
| Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease AV Dos Santos, CP Pestana, KR da Silva Diniz, M Campos, ... Neuroscience letters 485 (2), 121-124, 2010 | 28 | 2010 |
| Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease CP da Silva, GM Abreu, PHC Acero, MC Júnior, JS Pereira, SRA Ramos, ... Journal of the Neurological Sciences 381, 160-164, 2017 | 24 | 2017 |
| The first case of NEUROD1‐MODY reported in Latin America GM Abreu, RM Tarantino, PH Cabello, VM Zembrzuski, ACP da Fonseca, ... Molecular genetics & genomic medicine 7 (12), e989, 2019 | 23 | 2019 |
| Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson’s disease in Brazilian patients B de Carvalho Guimarães, ACV Pereira, F da Costa Rodrigues, ... Parkinsonism & related disorders 18 (5), 688-689, 2012 | 23 | 2012 |
| Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes KCV Moura, MC Junior, ALZ de Rosso, DH Nicaretta, JS Pereira, ... Disease markers 32 (3), 173-178, 2012 | 23 | 2012 |
| Parkinson disease: α-synuclein mutational screening and new clinical insight into the p. E46K mutation MMG Pimentel, FC Rodrigues, MAA Leite, MC Júnior, AL Rosso, ... Parkinsonism & related disorders 21 (6), 586-589, 2015 | 22 | 2015 |
| Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson’s disease CB Abdalla‐Carvalho, CB Santos‐Rebouças, BC Guimarães, M Campos, ... European journal of neurology 17 (12), 1479-1481, 2010 | 21 | 2010 |
| Autosomal dominant Parkinson’s disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil GM Abreu, DCT Valença, MC Júnior, CP da Silva, JS Pereira, MAA Leite, ... Neuroscience letters 635, 67-70, 2016 | 19 | 2016 |
| Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early‐Onset Parkinson′s Disease KCV Moura, M Campos Junior, ALZ de Rosso, DH Nicaretta, JS Pereira, ... Disease markers 35 (3), 181-185, 2013 | 18 | 2013 |
| Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males M Campos Jr, CB Abdalla, CB Santos-Rebouças, AV dos Santos, ... Brain and Development 29 (5), 293-297, 2007 | 18 | 2007 |
| MODY probability calculator for GCK and HNF1A screening in a multiethnic background population RM Tarantino, GM Abreu, ACP Fonseca, R Kupfer, MFC Pereira, ... Archives of Endocrinology and Metabolism 64 (1), 17-23, 2019 | 16 | 2019 |
| Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients ACP da Fonseca, GM Abreu, VM Zembrzuski, M Campos Junior, ... Eating and Weight Disorders-Studies on Anorexia, Bulimia and Obesity 26 …, 2021 | 15 | 2021 |
| High Frequency of Nonrecurrent MECP2 Duplications Among Brazilian Males with Mental Retardation M Campos, SM Churchman, CB Santos-Rebouças, F Ponchel, ... Journal of molecular neuroscience 41, 105-109, 2010 | 15 | 2010 |
| A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder MC Junior, CP Pestana, AV dos Santos, F Ponchel, S Churchman, ... Brain and Development 33 (10), 807-809, 2011 | 14 | 2011 |
| PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes GMA Miss, RM Tarantino, ACP da Fonseca, RB de Souza, CAPD Soares, ... European Journal of Medical Genetics 64 (5), 104194, 2021 | 13 | 2021 |
| Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient ACP Da Fonseca, GM Abreu, VM Zembrzuski, MC Junior, JRI Carneiro, ... Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy, 257-266, 2019 | 13 | 2019 |
| A telemedicine instrument for remote evaluation of tremor: design and initial applications in fatigue and patients with Parkinson's Disease MCB Júnior, GP Esteves, TP Nunes, LMG Silva, ACD Faria, PL Melo Biomedical engineering online 10, 14, 2011 | 13 | 2011 |
