Mitochondrial encephalomyopathy with coenzyme Q10 deficiency C Sobreira, M Hirano, S Shanske, RK Keller, RG Haller, E Davidson, ... Neurology 48 (5), 1238-1243, 1997 | 241 | 1997 |
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy JP Halter, W Michael, M Schüpbach, H Mandel, C Casali, K Orchard, ... Brain 138 (10), 2847-2858, 2015 | 153 | 2015 |
A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy N Goemans, E Mercuri, E Belousova, H Komaki, A Dubrovsky, ... Neuromuscular Disorders 28 (1), 4-15, 2018 | 124 | 2018 |
Expanding the phenotypes of the Pro56Ser VAPB mutation: Proximal SMA with dysautonomia VD Marques, AA Barreira, MB Davis, PM Abou‐Sleiman, WA Silva Jr, ... Muscle & Nerve: Official Journal of the American Association of …, 2006 | 90 | 2006 |
Hand weakness in Duchenne muscular dystrophy and its relation to physical disability FL Mattar, C Sobreira Neuromuscular Disorders 18 (3), 193-198, 2008 | 84 | 2008 |
Creatine supplementation attenuates corticosteroid-induced muscle wasting and impairment of exercise performance in rats LG Menezes, C Sobreira, L Neder, AL Rodrigues-Júnior, ... Journal of Applied Physiology 102 (2), 698-703, 2007 | 67 | 2007 |
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations SM Oba-Shinjo, R Da Silva, FG Andrade, RE Palmer, RJ Pomponio, ... Journal of neurology 256, 1881-1890, 2009 | 62 | 2009 |
Validação da escala motora funcional EK para a língua portuguesa JAB Martinez, MA Brunherotti, MR Assis, CFR Sobreira Revista da Associação Médica Brasileira 52, 347-351, 2006 | 49 | 2006 |
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease JC Llerena Junior, OJM Nascimento, ASB Oliveira, MET Dourado Junior, ... Arquivos de Neuro-Psiquiatria 74, 166-176, 2015 | 48 | 2015 |
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 | 40 | 2019 |
Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives APQC Araujo, AAS de Carvalho, EBU Cavalcanti, JAM Saute, E Carvalho, ... Arquivos de neuro-psiquiatria 75, 104-113, 2017 | 35 | 2017 |
Dihydrorhodamine 123 identifies impaired mitochondrial respiratory chain function in cultured cells harboring mitochondrial DNA mutations. C Sobreira, M Davidson, MP King, AF Miranda Journal of Histochemistry & Cytochemistry 44 (6), 571-579, 1996 | 35 | 1996 |
Clinical and molecular findings in a cohort of ANO5‐related myopathy AMS Silva, AR Coimbra-Neto, PVS Souza, PB Winckler, MVM Gonçalves, ... Annals of clinical and translational neurology 6 (7), 1225-1238, 2019 | 34 | 2019 |
Correlations of Egen Klassifikation and Barthel Index scores with pulmonary function parameters in Duchenne muscular dystrophy MA Brunherotti, C Sobreira, AL Rodrigues-Júnior, MR de Assis, ... Heart & Lung 36 (2), 132-139, 2007 | 32 | 2007 |
Cross-cultural adaptation and validation of the Brazilian version of the Wisconsin Brief Pain Questionnaire FO Toledo, PS Barros, M Herdman, G Vilagut, GC Reis, J Alonso, ... Journal of pain and symptom management 46 (1), 121-130, 2013 | 22 | 2013 |
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 |
Idiopathic hyperCKemia and malignant hyperthermia susceptibility HyperCKémie idiopathique et susceptibilité al’hyperthermie maligne JM Santos, MSPV Andrade, PDL Galleni, MSM Vainzof, CFR Sobreira, ... Can J Anesth/J Can Anesth 64, 1202-1210, 2017 | 19 | 2017 |
PND66 cross-cultural adaptation and validation of the Brazilian version of the fatigue severity scale (FSS) FO Toledo, WM Junior, JG Speciali, C Sobreira Value in Health 14 (7), A329-A330, 2011 | 19 | 2011 |
Myalgia as the revealing symptom of multicore disease and fibre type disproportion myopathy C Sobreira, W Marques, AA Barreira Journal of Neurology, Neurosurgery & Psychiatry 74 (9), 1317-1319, 2003 | 16 | 2003 |
Delays in pulmonary decline in eteplirsen‐treated patients with Duchenne muscular dystrophy J Iff, C Gerrits, Y Zhong, E Tuttle, E Birk, Y Zheng, X Paul, EK Henricson, ... Muscle & Nerve 66 (3), 262-269, 2022 | 14 | 2022 |