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Arquivos De Neuro-Psiquiatria|January 14, 2010
Autosomal recessive ataxias: 20 types, and countingEmília Katiane Embiruçu, Marcília Lima Martyn, David Schlesinger, et al.Arquivos De Neuro-Psiquiatria|May 14, 2010
Joubert syndrome: large clinical variability and a unique neuroimaging aspectEmília Katiane Embiruçu Leão, Marcília Martyn Lima, Otacílio de Oliveira Maia, et al.International Archives of Otorhinolaryngology|August 11, 2021
Hearing Loss in MucopolysaccharidosisCibele Gomes Bicalho, Emília Katiane Embiruçu de Araújo Leão, Álvaro Muiños de Andrade, et al.Arquivos De Neuro-Psiquiatria|May 9, 2025
Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspectiveDafne Dain Gandelman Horovitz, André Pessoa, Marcondes Cavalcante França Junior, et al.Arquivos De Neuro-Psiquiatria|April 14, 2023
Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts groupLeticia Pereira de Brito Sampaio, Maria Luiza Giraldes de Manreza, André Pessoa, et al.Orphanet Journal of Rare Diseases|May 1, 2016
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case seriesDafne Dain Gandelman Horovitz, Angelina X Acosta, Roberto Giugliani, et al.Journal of Clinical Medicine|January 28, 2026
A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in BrazilRoberto Giugliani, Ana Cecília Menezes de Siqueira, Ana Maria Martins, et al.International Journal of Infectious Diseases : IJID : Official Publication of the International Society for Infectious Diseases|November 3, 2021
Detection and sequencing of Zika virus in normocephalic newborns with congenital Zika infectionBreno Lima de Almeida, Marta Giovanetti, João Vitor Oliveira, et al.Genetics and Molecular Biology|March 15, 2024
Disease progression in Sanfilippo type B: Case series of Brazilian patientsYorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, et al.Brain and Behavior|October 22, 2025
Genetic Basis of the Negative Response to the Use of Triptans for the Treatment of Migraine-A Systematic Review and Meta-AnalysisVictoria Gomes Andreata, Ruan Pablo Duarte Freitas, Jéssica da Silva Nascimento, et al.Pageof 2