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List of works by Osorio Abath Neto

A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels

scientific article published on 6 February 2016

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

scientific article published on 30 January 2018

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

scientific article published on 6 July 2017

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.

scientific article

Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature

scientific article published on 07 April 2017

Clinical aspects of patients with sarcoglycanopathies under steroids therapy

scientific article published on 01 October 2014

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

scientific article published on 30 May 2017

DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

scientific article

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

scientific article published on 23 December 2016

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.

scientific article

Impact of stroke unit in a public hospital on length of hospitalization and rate of early mortality of ischemic stroke patients

scientific article

Integrative data mining highlights candidate genes for monogenic myopathies

scientific article

Limb-girdle muscular dystrophy type 2A in Brazilian children

scientific article published in December 2015

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss

scientific article published in 2021

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

scientific article published in January 2017

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

scientific article published on 8 February 2017

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy

scientific article published on 20 January 2012

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

scientific article published on 17 October 2016

One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.

scientific article

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

scientific journal article

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