Eduardo P Estephan

8PUBLICATIONS
59CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Gene and molecular therapyRespiratory diseasesMedical genetics (excl. cancer genetics)
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Publications (8)

|Jul 20, 2026
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

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

|Dec 29, 2023
Electrophysiological evaluation of the neuromuscular junction: a brief review.

João Aris Kouyoumdjian, Eduardo de Paula Estephan

|Aug 17, 2022
Myasthenia gravis in clinical practice.

Eduardo de Paula Estephan, José Pedro Soares Baima, Antonio Alberto Zambon

|Aug 10, 2022
Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders.

Cristiane Araujo Martins Moreno, Clara Gontijo Camelo, Pedro Henrique Marte de Arruda Sampaio

|Nov 08, 2021
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.

Eduardo P Estephan, Antonio A Zambon, Rachel Thompson

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Frequent Collaborators

3 joint publications

Edmar Zanoteli

2 joint publications

Rachel Thompson

2 joint publications

Sergi Beltran

2 joint publications

Hanns Lochmüller