Charles Marques Lourenço

10PUBLICATIONS
85CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesRegenerative medicine (incl. stem cells)Gene mappingMetabolic medicine
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Publications (10)

|Jun 25, 2026
The weight of genotype on the clinical presentation of COQ7-related hereditary motor axonal neuropathy: a case series and literature review.

|May 09, 2025
Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective.

Dafne Dain Gandelman Horovitz, André Pessoa, Marcondes Cavalcante França Junior

|May 19, 2024
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.

Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira

|Jan 18, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.

Hana Alharbi, Earnest James Paul Daniel, Jenny Thies

|Sep 06, 2021
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil.

Charles Marques Lourenço, Janaina Dovidio, Isabela F Lopes

|Feb 11, 2021
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.

Lila Allou, Sara Balzano, Andreas Magg

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Frequent Collaborators

2 joint publications

André Pessoa

2 joint publications

Carolina Fischinger Moura de Souza

1 joint publications

Hana Alharbi

1 joint publications

Sheri A Poskanzer