Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia LE Novis, RS Frezatti, D Pellerin, PJ Tomaselli, S Alavi, MV Della Coleta, ... Neurology: Genetics 9 (5), e200094, 2023 | 20 | 2023 |
Neuromuscular disease genetics in under-represented populations: increasing data diversity LA Wilson, WL Macken, LD Perry, CJ Record, KR Schon, RSS Frezatti, ... Brain 146 (12), 5098-5109, 2023 | 11 | 2023 |
Conduction block and temporal dispersion in a SIGMAR1‐related neuropathy RSS Frezatti, PJ Tomaselli, FB Figueiredo, S Zuchner, MM Reilly, ... Journal of the Peripheral Nervous System 27 (4), 316-319, 2022 | 1 | 2022 |
Hopkins Syndrome: An Uncommon Cause of Weakness in Intensive Care Unit TAP Gonçalves, MCZ Zotin, CL Moreira, RSS Frezatti, AC Santos, ... Pediatric Neurology 163, 4-6, 2025 | | 2025 |
Monoclonal gammopathy‐associated peripheral neuropathies: Uncovering pearls and challenges TAP Gonçalves, CD Donadel, RSS Frezatti, PMM Garibaldi, RT Calado, ... Journal of the Peripheral Nervous System, 2024 | | 2024 |
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country RSS Frezatti, PJ Tomaselli, CJ Record, LA Wilson, GM Alves, N Dominik, ... Brain Communications 6 (6), fcae342, 2024 | | 2024 |
Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families VAZ Maciel, G Maximiano‐Alves, RSS Frezatti, ALDM Alves, ... Journal of the Peripheral Nervous System 28 (4), 614-619, 2023 | | 2023 |
P. 215 Non 5Q SMA: a Brazilian cohort study R Frezatti, P Tomaselli, C Record, R Pitceathly, H Houlden, M Hanna, ... Neuromuscular Disorders 32, S134, 2022 | | 2022 |
P. 181 Limb girdle muscle dystrophy: a Brazilian cohort on ICGNMD study P Tomaselli, R Frezatti, C Record, R Pitceathly, H Houlden, M Hanna, ... Neuromuscular Disorders 32, S119, 2022 | | 2022 |
Hicka,’s dictum on a case of progressive weakness and hypermobility: a double genetic hit disorder R Frezatti, P Tomaselli, M Reilly, C Record, F Figueiredo, W Marques Wiley-Blackwell, 2022 | | 2022 |
Distal hereditary motor neuropathy: a brazilian cohort studyI P Tomaselli, R Frezatti, F Figueiredo, S Gouvea, M Reilly, W Marques Wiley-Blackwell, 2022 | | 2022 |
GENETIC PROFILING OF A BRAZILIAN COHORT OF INHERITED DEMYELINATING NEUROPATHIES P Tomaselli, F Figueiredo, I Lorena, S Gouvea, R Frezatti, MV Gomes, ... JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 27, S89-S89, 2022 | | 2022 |
Clinical & Medical RSS Frezatti, PJ Tomaselli, TO de Holanda Monteiro Frezatti, ... | | |