Wilson J. Marques

Otorhinolaryngology And Head And Neck Surgery
Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 116 publications

Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain-of-Function Variant.

Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain-of-Function Variant.

Journal: Journal of the peripheral nervous system : JPNS

Published: May 27, 2026

Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype.

Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype.

Journal: Journal of the peripheral nervous system : JPNS

Published: May 18, 2026

Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation.

Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation.

Journal: International journal of neonatal screening

Published: May 14, 2026

Motor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.

Motor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.

Journal: Journal of the peripheral nervous system : JPNS

Published: January 17, 2026

Neuropathy in Val122Ile Hereditary Transthyretin (ATTR) Amyloidosis: A Multicenter Retrospective Cohort Study.

Neuropathy in Val122Ile Hereditary Transthyretin (ATTR) Amyloidosis: A Multicenter Retrospective Cohort Study.

Journal: Journal of the peripheral nervous system : JPNS

Published: January 04, 2026

Biallelic Nonsense Variants in NEFL May Cause a Non-Length-Dependent Neuropathy With Temporal Dispersion on Nerve Conduction Studies.

Biallelic Nonsense Variants in NEFL May Cause a Non-Length-Dependent Neuropathy With Temporal Dispersion on Nerve Conduction Studies.

Journal: Journal of the peripheral nervous system : JPNS

Published: December 14, 2025

Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil.

Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil.

Journal: Journal of the peripheral nervous system : JPNS

Published: October 02, 2025

Longitudinal assessment of natural disease progression in Brazilian children and adolescents with Charcot-Marie-Tooth disease.

Longitudinal assessment of natural disease progression in Brazilian children and adolescents with Charcot-Marie-Tooth disease.

Journal: Arquivos de neuro-psiquiatria

Published: August 20, 2025

Brazilian Academy of Neurology recommendations for diagnosis, management, and treatment of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).

Brazilian Academy of Neurology recommendations for diagnosis, management, and treatment of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).

Journal: Arquivos de neuro-psiquiatria

Published: July 28, 2025

Pachymeningeal thickening and subdural effusion in POEMS syndrome.

Pachymeningeal thickening and subdural effusion in POEMS syndrome.

Journal: Practical neurology

Published: June 11, 2025

EGR2 gene mutations: lessons learned from 4 cases.

EGR2 gene mutations: lessons learned from 4 cases.

Journal: Arquivos de neuro-psiquiatria

Published: May 26, 2025

A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives.

A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives.

Journal: Arquivos de neuro-psiquiatria

Published: May 13, 2025

Showing 1-12 of 116

Last Updated: 09/26/2026