| Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls BT Darras, R Masson, M Mazurkiewicz-Bełdzińska, K Rose, H Xiong, ... New England Journal of Medicine 385 (5), 427-435, 2021 | 220 | 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 |
| Rhabdomyolysis: a genetic perspective RS Scalco, AR Gardiner, RDS Pitceathly, E Zanoteli, J Becker, JL Holton, ... Orphanet journal of rare diseases 10, 1-15, 2015 | 151 | 2015 |
| Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy J Böhm, V Biancalana, ET DeChene, M Bitoun, CR Pierson, E Schaefer, ... Human mutation 33 (6), 949-959, 2012 | 138 | 2012 |
| Myasthenia gravis and COVID-19: clinical characteristics and outcomes AE Camelo-Filho, AMS Silva, EP Estephan, AA Zambon, RH Mendonça, ... Frontiers in neurology 11, 1053, 2020 | 121 | 2020 |
| Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial R Masson, M Mazurkiewicz-Bełdzińska, K Rose, L Servais, H Xiong, ... The Lancet Neurology 21 (12), 1110-1119, 2022 | 69 | 2022 |
| Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment M Wiessner, A Roos, CJ Munn, R Viswanathan, T Whyte, D Cox, ... The American Journal of Human Genetics 100 (3), 523-536, 2017 | 67 | 2017 |
| 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 | 64 | 2014 |
| Telethonin protein expression in neuromuscular disorders M Vainzof, ES Moreira, OT Suzuki, G Faulkner, G Valle, AH Beggs, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1588 (1), 33-40, 2002 | 64 | 2002 |
| Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid IA Darbar, PG Plaggert, MBD Resende, E Zanoteli, UC Reed BMC neurology 11, 1-5, 2011 | 63 | 2011 |
| Nebulin expression in patients with nemaline myopathy J Gurgel-Giannetti, U Reed, ML Bang, K Pelin, K Donner, SK Marie, ... Neuromuscular Disorders 11 (2), 154-162, 2001 | 61 | 2001 |
| Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital A Studart-Neto, BF Guedes, R de Luca, AE Camelo Filho, GT Kubota, ... Arquivos de neuro-psiquiatria 78 (08), 494-500, 2020 | 60 | 2020 |
| STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility IT Zaharieva, A Sarkozy, P Munot, A Manzur, G O'grady, J Rendu, ... Human mutation 39 (12), 1980-1994, 2018 | 60 | 2018 |
| Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue E Zanoteli, D van de Vlekkert, EJ Bonten, H Hu, L Mann, EM Gomero, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1802 (7-8 …, 2010 | 60 | 2010 |
| Sporadic inclusion body myositis: MRI findings and correlation with clinical and functional parameters JB Guimaraes, E Zanoteli, TM Link, LV de Camargo, L Facchetti, L Nardo, ... American Journal of Roentgenology 209 (6), 1340-1347, 2017 | 59 | 2017 |
| Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis Q Gang, C Bettencourt, PM Machado, S Brady, JL Holton, AM Pittman, ... Neurobiology of Aging 47, 218. e1-218. e9, 2016 | 59 | 2016 |
| 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 |
| Temporomandibular joint and masticatory muscle involvement in myotonic dystrophy: a study by magnetic resonance imaging E Zanoteli, HK Yamashita, H Suzuki, ASB Oliveira, AA Gabbai Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and …, 2002 | 52 | 2002 |
| One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and … A Abrahao, OA Neto, F Kok, E Zanoteli, B Santos, WBV de Rezende Pinto, ... Journal of the neurological sciences 368, 352-358, 2016 | 50 | 2016 |
| Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy PB Winckler, AMS da Silva, AR Coimbra‐Neto, E Carvalho, ... Clinical genetics 96 (4), 341-353, 2019 | 46 | 2019 |
