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JIMD Reports|May 13, 2024
Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospitalGustavo Marquezani Spolador, Clarissa Bueno, Rita Tiziana Verardo Polastrini, et al.
Investigative Ophthalmology & Visual Science|January 19, 2018
Melanopsin System Dysfunction in Smith-Magenis Syndrome PatientsMirella Telles Salgueiro Barboni, Clarissa Bueno, Balázs Vince Nagy, et al.
JIMD Reports|November 12, 2021
Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent strokeJosé A Paz, Emilia K Embiruçu, Clarissa Bueno, et al.
Diabetes|February 16, 2019
Melatonin Increases Brown Adipose Tissue Volume and Activity in Patients With Melatonin Deficiency: A Proof-of-Concept StudyBruno Halpern, Marcio C Mancini, Clarissa Bueno, et al.
Journal of Sleep Research|August 14, 2025
Sleep and Rhythmic Profile After Pineal Gland Removal in HumansRenata de Andrade Prado Gobetti, Clarissa Bueno, Letícia M S F A Soster, et al.
Annals of Human Genetics|April 7, 2009
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genesLúcia Inês Macedo-Souza, Fernando Kok, Silvana Santos, et al.
Cold Spring Harbor Molecular Case Studies|September 30, 2022
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegiaFernando Freua, Mariana Espíndola de Castro Almeida, Paulo Ribeiro Nóbrega, et al.
European Journal of Human Genetics : EJHG|September 27, 2007
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigreeMiguel Mitne-Neto, Fernando Kok, Christian Beetz, et al.
Bone Marrow Transplantation|January 14, 2018
Haploidentical bone marrow transplantation with post transplant cyclophosphamide for patients with X-linked adrenoleukodystrophy: a suitable choice in an urgent situationJuliana Folloni Fernandes, Carmem Bonfim, Fábio Rodrigues Kerbauy, et al.
Brain Sciences|August 26, 2023
Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutières Syndrome PhenotypeIsabella Peixoto de Barcelos, Clarissa Bueno, Luís Filipe S Godoy, et al.
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