De P. Estephan

Sao Jose Do Rio Preto, SP, Brazil

Last Updated: 09/26/2026

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Found 18 publications

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

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

Journal: Arquivos de neuro-psiquiatria

Published: June 25, 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.

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

Journal: Journal of neurology

Published: May 02, 2026

Clinical and Genetic Spectrum of ATP1A3-Related Disorders: A Multicenter Cross-Sectional Study.

Clinical and Genetic Spectrum of ATP1A3-Related Disorders: A Multicenter Cross-Sectional Study.

Journal: Neurology. Genetics

Published: December 16, 2025

Surgical treatment of myasthenia gravis: 10 years of single center experience.

Surgical treatment of myasthenia gravis: 10 years of single center experience.

Journal: Frontiers in neurology

Published: March 18, 2025

Electrophysiological evaluation of the neuromuscular junction: a brief review.

Electrophysiological evaluation of the neuromuscular junction: a brief review.

Journal: Arquivos de neuro-psiquiatria

Published: December 29, 2023

A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.

A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.

Journal: Neuromuscular disorders : NMD

Published: February 13, 2023

The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.

The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.

Journal: Journal of neuropathology and experimental neurology

Published: July 28, 2022

Myasthenia gravis in clinical practice.

Myasthenia gravis in clinical practice.

Journal: Arquivos de neuro-psiquiatria

Published: March 16, 2022

Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders.

Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders.

Journal: Arquivos de neuro-psiquiatria

Published: August 23, 2021

Teaching Video NeuroImage: Reflex Facilitation in Lambert-Eaton Myasthenic Syndrome.

Teaching Video NeuroImage: Reflex Facilitation in Lambert-Eaton Myasthenic Syndrome.

Journal: Neurology

Published: May 27, 2021

Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia.

Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia.

Journal: Neuromuscular disorders : NMD

Published: August 03, 2020

Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.

Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.

Journal: Neuromuscular disorders : NMD

Published: April 07, 2019

Showing 1-12 of 18

Last Updated: 09/26/2026