Karina C. Donis
Joao Pessoa, PB, Brazil
Last Updated: 09/26/2026
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Found 40 publications
The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil.
Journal: Cerebellum (London, England)
Published: June 08, 2026
Cross-Cultural Adaptation of the Patient-Reported Outcome Measure of Ataxia: the Brazilian Version of PROM-Ataxia.
Journal: Cerebellum (London, England)
Published: May 16, 2025
Unveiling Spinocerebellar Ataxia 25: First Case Report of a Brazilian Family.
Journal: Cerebellum (London, England)
Published: January 25, 2025
Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing.
Journal: Journal of community genetics
Published: October 08, 2024
Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges.
Journal: Journal of community genetics
Published: July 08, 2024
Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.
Journal: Jornal de pediatria
Published: April 07, 2024
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Journal: Clinical genetics
Published: February 15, 2024
Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review.
Journal: Cerebellum (London, England)
Published: October 30, 2023
Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis.
Journal: Journal of neuromuscular diseases
Published: October 02, 2023
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report.
Journal: Molecular syndromology
Published: July 12, 2023
Neonatal screening for spinal muscular atrophy: A pilot study in Brazil.
Journal: Genetics and molecular biology
Published: April 28, 2023
Last Updated: 09/26/2026