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List of works by Eduardo de Paula Estephan

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

scientific article published on 30 January 2018

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil

scientific article published on 05 September 2018

Clinical, histological and radiological responses to methylprednisolone in HIV-associated rod myopathy.

scientific article

Facial and bulbar muscle atrophy in acetylcholine receptor antibody-positive myasthenia gravis

scientific article published on 01 March 2017

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

scientific article published on 23 June 2019

Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient

scientific article published in January 2017

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation

scientific article published on 17 October 2016

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

scientific article published on 01 June 2019

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