| 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands … AH Beggs, G Bonne, C Bönnemann, S Donkervoort, JJ Dowling, ... Neuromuscular Disorders 29 (8), 644-650, 2019 | | 2019 |
| 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands … S Donkervoort, JJ Dowling, J Laporte, D MacArthur, CG Bönnemann, ... Neuromuscular Disorders 29 (8), 644-650, 2019 | 2 | 2019 |
| 61%(25/41) of infants were sitting without support for at least 5 seconds at Month 24, as measured by the BSID-III D Vlodavets, BT Darras, R Masson, M Mazurkiewicz-Bełdzińska, K Rose, ... | | |
| A common CHRNE mutation (c. 130dupG) in Brazilian patients with congenital myasthenic syndrome E Estephan, A Silva, R Mendonça, V Caldas, A Zambon, P Marchiori, ... Neuromuscular Disorders 27, S221, 2017 | | 2017 |
| A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome PJ Tomaselli, W Marques, RPM Ortega, MCM Costa, RH Mendonça, ... Journal of Neurology, 2018 | | 2018 |
| A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome EP Estephan, CFR Sobreira, ACJ Dos Santos, PJ Tomaselli, W Marques, ... Journal of neurology 265, 708-713, 2018 | 21 | 2018 |
| A new mutation in PYGM causing McArdle disease in a Brazilian patient CP Gomes, AMS da Silva, E Zanoteli, JB Pesquero Acta Neurologica Belgica 120, 705-707, 2020 | 2 | 2020 |
| A novel acta 1 mutation in a patient with nemaline myopathy CA Martins, OL Abath Neto, UC Reed, E Zanoteli Arquivos de Neuro-Psiquiatria 72, 90, 2014 | | 2014 |
| A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms M Sampedro Castañeda, E Zanoteli, RS Scalco, V Scaramuzzi, ... Brain 141 (12), 3308-3318, 2018 | 38 | 2018 |
| A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant TB Leoni, C González‐Salazar, TJR Rezende, ALC Hernandez, ... Annals of neurology 90 (2), 239-252, 2021 | 28 | 2021 |
| A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy V Tosch, HM Rohde, H Tronchere, E Zanoteli, N Monroy, C Kretz, ... Human molecular genetics 15 (21), 3098-3106, 2006 | 153 | 2006 |
| A partial-merosin deficient congenital muscular dystrophy patient associated with temporal cysts, type II lissencephaly, flattening brainstem and white matter changes CCS Pereira, E Zanoteli, LS Moura, B Schmidt, AJ Rocha, ASB Oliveira NEUROMUSCULAR DISORDERS 15 (9-10), 704-705, 2005 | | 2005 |
| A self-reported Brazilian registry of spinal muscular atrophy: data from natural history, genetic characteristics, and multidisciplinary care RH Mendonca, JSA de Godoi, E Zanoteli | | 2023 |
| A study of a cohort of X-linked myotubular myopathy at the clinical, histologic, and genetic levels OA Neto, MR e Silva, C de Araújo Martins, ASB Oliveira, UC Reed, ... Pediatric neurology 58, 107-112, 2016 | 15 | 2016 |
| Abnormal myosin post‐translational modifications and ATP turnover time associated with human congenital myopathy‐related RYR1 mutations A Sonne, AK Antonovic, E Melhedegaard, F Akter, JL Andersen, ... Acta Physiologica 239 (2), e14035, 2023 | 5 | 2023 |
| Acidóse tubular renal distal manifestando-se com rabdomiólise E Zanoteli, ASB Oliveira, CH Tengan, MPA Morita, B Schmidt, AA Gabbai Arquivos de Neuro-Psiquiatria 52, 549-553, 1994 | 1 | 1994 |
| Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues V Biancalana, S Scheidecker, M Miguet, A Laquerrière, NB Romero, ... Acta neuropathologica 134, 889-904, 2017 | 56 | 2017 |
| AGRADECIMENTO AOS AVALIADORES AQC Araújo, A Topczewski, ASB Oliveira, AB da Silva, AB Daudt, ... Arq Neuropsiquiatr 56 (4), 869-871, 1998 | | 1998 |
| Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy TBC Marques, JC Neves, LA Portes, JM Salge, E Zanoteli, UC Reed Jornal Brasileiro de Pneumologia 40 (5), 528-534, 2014 | 62 | 2014 |
| Análise da expressão do colágeno VI na distrofia muscular congênita RTL Freitas, E Zanoteli, MPA Morita, ASB Oliveira Arquivos de Neuro-Psiquiatria 63, 514-518, 2005 | 4 | 2005 |
