Clarissa Bueno

Melatonin Increases Brown Adipose Tissue Volume and Activity in Patients With Melatonin Deficiency: A Proof-of-Concept Study

Bruno Halpern, Márcio C. Mancini, Clarissa Bueno et al. · Diabetes · 2019 · 64 citations · Full text

Medicine, Biochemistry, Endocrinology +17

Screening of ARHSP-TCC patients expands the spectrum of<i>SPG11</i>mutations and includes a large scale gene deletion

Paola S. Denora, David Schlesinger, Carlo Casali et al. · Human Mutation · 2008 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes

Lúcia Inês Macedo‐Souza, Fernando Kok, Silvana Santos et al. · Annals of Human Genetics · 2009 · 43 citations · Full text

Life Sciences, Genetics, Neurology +17

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

Miguel Mitne‐Neto, Fernando Kok, Christian Beetz et al. · European Journal of Human Genetics · 2007 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Trine Tangeraas, Juliana Ribeiro Constante, Paul Hoff Backe et al. · Brain · 2023 · 32 citations · Full text

Medicine, Molecular Genetics, Pediatrics +17