Raquel C. Arndt

Curitiba PR
Curitiba, PR, Brazil

Last Updated: 09/26/2026

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Found 9 publications

A TPM2 mutation causes congenital myopathy with fibre-type disproportion.

A TPM2 mutation causes congenital myopathy with fibre-type disproportion.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: April 16, 2024

Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.

Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.

Journal: Arquivos de neuro-psiquiatria

Published: February 23, 2024

Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.

Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.

Journal: Arquivos de neuro-psiquiatria

Published: October 18, 2023

Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.

Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.

Journal: Arquivos de neuro-psiquiatria

Published: December 08, 2020

Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.

Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.

Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

Published: November 22, 2019

HLA-alleles class I and II associated with genetic susceptibility to neuromyelitis optica in Brazilian patients.

HLA-alleles class I and II associated with genetic susceptibility to neuromyelitis optica in Brazilian patients.

Journal: Arquivos de neuro-psiquiatria

Published: October 25, 2018

Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease.

Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease.

Journal: Acta neurologica Belgica

Published: August 31, 2018

Hereditary Neuropathy With Liability to Pressure Palsies: A Single-Center Experience in Southern Brazil.

Hereditary Neuropathy With Liability to Pressure Palsies: A Single-Center Experience in Southern Brazil.

Journal: Neurology international

Published: July 04, 2016

The immunogenetics of multiple sclerosis. The frequency of HLA-alleles class 1 and 2 is lower in Southern Brazil than in the European population.

The immunogenetics of multiple sclerosis. The frequency of HLA-alleles class 1 and 2 is lower in Southern Brazil than in the European population.

Journal: Arquivos de neuro-psiquiatria

Published: May 18, 2016

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Last Updated: 09/26/2026