| A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis AL Nishimura, M Mitne-Neto, HCA Silva, A Richieri-Costa, S Middleton, ... The American Journal of Human Genetics 75 (5), 822-831, 2004 | 1186 | 2004 |
| Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1268-1283. e6, 2018 | 576 | 2018 |
| Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ... Nature genetics 53 (12), 1636-1648, 2021 | 275 | 2021 |
| Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients M Mitne-Neto, M Machado-Costa, MCN Marchetto, MH Bengtson, ... Human molecular genetics 20 (18), 3642-3652, 2011 | 255 | 2011 |
| A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13 AL Nishimura, M Mitne-Neto, HCA Silva, JRM Oliveira, M Vainzof, M Zatz Journal of medical genetics 41 (4), 315-320, 2004 | 113 | 2004 |
| Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis S Zhang, J Cooper-Knock, AK Weimer, M Shi, T Moll, JNG Marshall, ... Neuron 110 (6), 992-1008. e11, 2022 | 72 | 2022 |
| The p. P56S mutation in the VAPB gene is not due to a single founder: the first European case AD Funke, M Esser, A Krüttgen, J Weis, M Mitne-Neto, M Lazar, ... Clinical genetics 77 (3), 302, 2010 | 71 | 2010 |
| Different donors mesenchymal stromal cells secretomes reveal heterogeneous profile of relevance for therapeutic use A Assoni, G Coatti, MC Valadares, M Beccari, J Gomes, M Pelatti, ... Stem cells and development 26 (3), 206-214, 2017 | 69 | 2017 |
| The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public RAA van der Spek, W van Rheenen, SL Pulit, KP Kenna, ... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20 (5-6), 432-440, 2019 | 67 | 2019 |
| DUOX2 mutations are associated with congenital hypothyroidism with ectopic thyroid gland MML Kizys, RA Louzada, M Mitne-Neto, JR Jara, GK Furuzawa, ... The Journal of Clinical Endocrinology & Metabolism 102 (11), 4060-4071, 2017 | 54 | 2017 |
| Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS PJ Hop, RAJ Zwamborn, E Hannon, GL Shireby, MF Nabais, EM Walker, ... Science translational medicine 14 (633), eabj0264, 2022 | 46 | 2022 |
| MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals EC Castelli, MV De Castro, MS Naslavsky, MO Scliar, NSB Silva, ... Frontiers in Immunology 12, 742881, 2021 | 42 | 2021 |
| A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree M Mitne-Neto, F Kok, C Beetz, A Pessoa, C Bueno, Z Graciani, M Martyn, ... European journal of human genetics 15 (12), 1276-1279, 2007 | 41 | 2007 |
| A mutation in human VAP-B–MSP domain, present in ALS patients, affects the interaction with other cellular proteins M Mitne-Neto, CRR Ramos, DC Pimenta, JS Luz, AL Nishimura, ... Protein expression and purification 55 (1), 139-146, 2007 | 40 | 2007 |
| Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer’s disease (LOAD) in Brazilian patients AL Nishimura, JRM Oliveira, M Mitne-Neto, C Guindalini, R Nitrini, ... Journal of Molecular Neuroscience 22, 257-260, 2004 | 37 | 2004 |
| Targeted genetic screen in amyotrophic lateral sclerosis reveals novel genetic variants with synergistic effect on clinical phenotype J Cooper-Knock, H Robins, I Niedermoser, M Wyles, PR Heath, ... Frontiers in molecular neuroscience 10, 370, 2017 | 28 | 2017 |
| Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases CRDAC Quaio, CM Moreira, GM Novo‐Filho, PR Sacramento‐Bobotis, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 27 | 2020 |
| Stem cells for amyotrophic lateral sclerosis modeling and therapy: myth or fact? GC Coatti, MS Beccari, TR Olávio, M Mitne‐Neto, OK Okamoto, M Zatz Cytometry Part A 87 (3), 197-211, 2015 | 27 | 2015 |
| Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study AC Pereira, TM Bes, M Velho, E Marques, CE Jannes, KR Valino, ... Human molecular genetics 31 (18), 3021-3031, 2022 | 25 | 2022 |
| CALR mutations screening in wild type JAK2V617F and MPLW515K/L Brazilian myeloproliferative neoplasm patients DPT Nunes, LT de Lima, M de Lourdes Chauffaille, M Mitne-Neto, ... Blood Cells, Molecules, and Diseases 55 (3), 236-240, 2015 | 25 | 2015 |
Fernando KokProfessor Associado, Departamento de Neurologia da FMUSPE-mail confirmado em mendelics.com.br
