Mutational analysis of COASY in an Italian patient with NBIA
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
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1. Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases;Annals of Clinical and Translational Neurology;2024-05-15
2. Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments;International Journal of Molecular Sciences;2023-03-21
3. Status Epilepticus in Coenzyme A Synthase Protein-Associated Neurodegeneration - Expanding the Clinical Phenotype;Indian Journal of Pediatrics;2023-03-06
4. Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families;neurogenetics;2023-02-15
5. COASY Protein-Associated Neurodegeneration: Report from India;Annals of Indian Academy of Neurology;2023
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