Screening of ARHSP‐TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion PS Denora, D Schlesinger, C Casali, F Kok, A Tessa, A Boukhris, ... Human mutation 30 (3), E500-E519, 2009 | 76 | 2009 |
Melatonin increases brown adipose tissue volume and activity in patients with melatonin deficiency: a proof-of-concept study B Halpern, MC Mancini, C Bueno, IP Barcelos, ME de Melo, MS Lima, ... Diabetes 68 (5), 947-952, 2019 | 71 | 2019 |
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 | 42 | 2007 |
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes LI Macedo‐Souza, F Kok, S Santos, L Licinio, K Lezirovitz, N Cavaçana, ... Annals of Human Genetics 73 (3), 382-387, 2009 | 40 | 2009 |
Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25 LI Macedo-Souza, F Kok, S Santos, L Licinio, K Lezirovitz, ... Neurogenetics 9, 225-226, 2008 | 35 | 2008 |
Development of sleep/wake, activity and temperature rhythms in newborns maintained in a neonatal intensive care unit and the impact of feeding schedules C Bueno, L Menna-Barreto Infant Behavior and Development 44, 21-28, 2016 | 30 | 2016 |
Melanopsin system dysfunction in Smith-Magenis syndrome patients MTS Barboni, C Bueno, BV Nagy, PL Maia, KSM Vidal, RC Alves, ... Investigative ophthalmology & visual science 59 (1), 362-369, 2018 | 26 | 2018 |
Haploidentical bone marrow transplantation with post transplant cyclophosphamide for patients with X-linked adrenoleukodystrophy: a suitable choice in an urgent situation JF Fernandes, C Bonfim, FR Kerbauy, M Rodrigues, I Esteves, NH Silva, ... Bone marrow transplantation 53 (4), 392-399, 2018 | 24 | 2018 |
Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls MH Vaisbich, A Braga, M Gabrielle, C Bueno, F Piazzon, F Kok Pediatric Nephrology 32, 1089-1092, 2017 | 24 | 2017 |
Gênese e ontogênese do ritmo de sono/vigília em humanos C Bueno, D Wey Revista da Biologia 9 (3), 62-67, 2012 | 22 | 2012 |
Melatonin therapy improves cardiac autonomic modulation in pinealectomized patients LA Campos, C Bueno, IP Barcelos, B Halpern, LC Brito, FG Amaral, ... Frontiers in Endocrinology 11, 239, 2020 | 16 | 2020 |
Environmental factors influencing biological rhythms in newborns: from neonatal intensive care units to home C Bueno, L Menna-Barreto Sleep Science 9 (4), 295-300, 2016 | 14 | 2016 |
Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis MCG Otaduy, CC Leite, LM Nagae, MC Pinho, C Bueno, UC Reed, F Kok Arquivos de neuro-psiquiatria 67, 1054-1056, 2009 | 13 | 2009 |
Cardiac autonomic control during non‐REM and REM sleep stages in paediatric patients with Prader‐Willi syndrome LC Brito, T Queiroga, RR Franco, CGB Passone, MC Lopes, SA Shea, ... Journal of sleep research 30 (3), e13165, 2021 | 12 | 2021 |
Sleep-wake and temperature rhythms in preterm babies maintained in a neonatal care unit C Bueno, L Diambra, L Menna-Barreto Sleep Research Online 4 (3), 77-82, 2001 | 11 | 2001 |
Electrical status epilepticus during sleep in patients with congenital Zika virus syndrome: An unprecedented clinical finding MB Krueger, SC Magalhães, A Pessoa, C Bueno, MR Masruha, ... Seizure 81, 250-253, 2020 | 8 | 2020 |
Breastfeeding, sleep and wake circadian rhythms show distinct temporal emerging patterns GA Oda, F Torres, C Bueno, D Wey, L Duarte, LS Menna-Barreto Biological Rhythm Research 39 (4), 379-387, 2008 | 8 | 2008 |
A questionnaire study on sleep disturbances associated with Prader-Willi syndrome TLO Queiroga, D Damiani, MC Lopes, R Franco, C Bueno, L Soster Journal of Pediatric Endocrinology and Metabolism 33 (3), 397-401, 2020 | 6 | 2020 |
Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke JA Paz, EK Embiruçu, C Bueno, RCCL Ferreira, FS Oliveira, ASS Pereira, ... JIMD reports 62 (1), 49-55, 2021 | 4 | 2021 |
Genesis and ontogenesis of sleep/wake rhythm in humans C Bueno, D Wey Revista da Biologia 9 (3), 62-67, 2012 | 2 | 2012 |