Marcela C. Costa-Machado

Salvador, BA, Brazil

Last Updated: 09/26/2026

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Found 13 publications

STAC3 gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia.

STAC3 gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia.

Journal: Arquivos de neuro-psiquiatria
Published: April 22, 2025

Is late diagnosis of Duchenne muscular dystrophy still a reality?

Is late diagnosis of Duchenne muscular dystrophy still a reality?

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: September 23, 2024

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.

Journal: Arquivos de neuro-psiquiatria
Published: February 05, 2024

Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition.

Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition.

Journal: Arquivos de neuro-psiquiatria
Published: April 14, 2023

Small-fibre Neuropathy in Patients with Familial Amyotrophic Lateral Sclerosis Type 8.

Small-fibre Neuropathy in Patients with Familial Amyotrophic Lateral Sclerosis Type 8.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Published: December 02, 2022

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

Journal: International journal of molecular sciences
Published: August 24, 2022

Involvement of cranial nerves in ATTR Ile127Val amyloidosis.

Involvement of cranial nerves in ATTR Ile127Val amyloidosis.

Journal: European journal of medical genetics
Published: February 08, 2022

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.

Journal: Neurology. Genetics
Published: November 21, 2019

Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis.

Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis.

Journal: Journal of human genetics
Published: November 07, 2019

Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.

Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.

Journal: Clinical genetics
Published: May 09, 2019

Clinical and molecular findings in a cohort of ANO5-related myopathy.

Clinical and molecular findings in a cohort of ANO5-related myopathy.

Journal: Annals of clinical and translational neurology
Published: March 11, 2019

Genetic evidence of Zika virus in mother's breast milk and body fluids of a newborn with severe congenital defects.

Genetic evidence of Zika virus in mother's breast milk and body fluids of a newborn with severe congenital defects.

Journal: Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
Published: May 04, 2018
Showing 1-12 of 13

Last Updated: 09/26/2026