Juliana Giannetti-Gurgel

Belo Horizonte, MG, Brazil

Last Updated: 09/26/2026

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Found 38 publications

Confirmatory long-term efficacy and safety results of ataluren in patients with nmDMD from Study 041, an international, randomized, double-blind, placebo-controlled, Phase III trial.

Confirmatory long-term efficacy and safety results of ataluren in patients with nmDMD from Study 041, an international, randomized, double-blind, placebo-controlled, Phase III trial.

Journal: Journal of comparative effectiveness research

Published: August 22, 2025

Safety and tolerability of onasemnogene abeparvovec for patients with spinal muscular atrophy weighing ≤17 kg and ≤24 months old from OFELIA, a phase 4, open-label, multicenter, non-randomised, interventional study.

Safety and tolerability of onasemnogene abeparvovec for patients with spinal muscular atrophy weighing ≤17 kg and ≤24 months old from OFELIA, a phase 4, open-label, multicenter, non-randomised, interventional study.

Journal: Lancet regional health. Americas

Published: March 12, 2025

Thrombotic microangiopathy following gene therapy for 5q-spinal muscular atrophy.

Thrombotic microangiopathy following gene therapy for 5q-spinal muscular atrophy.

Journal: Gene therapy

Published: January 15, 2025

Why should a 5q spinal muscular atrophy neonatal screening program be started?

Why should a 5q spinal muscular atrophy neonatal screening program be started?

Journal: Arquivos de neuro-psiquiatria

Published: October 13, 2024

Is late diagnosis of Duchenne muscular dystrophy still a reality?

Is late diagnosis of Duchenne muscular dystrophy still a reality?

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 23, 2024

Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort.

Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort.

Journal: Scientific reports

Published: July 30, 2024

Brazilian version of the Hammersmith Functional Motor Scale Expanded: cross-cultural adaptation and validation.

Brazilian version of the Hammersmith Functional Motor Scale Expanded: cross-cultural adaptation and validation.

Journal: Arquivos de neuro-psiquiatria

Published: July 29, 2024

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.

Journal: Arquivos de neuro-psiquiatria

Published: February 05, 2024

DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.

DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.

Journal: Journal of neuromuscular diseases

Published: July 02, 2023

Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group.

Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group.

Journal: Arquivos de neuro-psiquiatria

Published: April 14, 2023

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.

Journal: Arquivos de neuro-psiquiatria

Published: March 14, 2023

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

Journal: International journal of molecular sciences

Published: August 24, 2022

Showing 1-12 of 38

Last Updated: 09/26/2026