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Publications by Sabrina Dusi

Metabolic Consequences of Mitochondrial Coenzyme a Deficiency in Patients With PANK2 Mutations

Molecular Genetics and Metabolism

Molecular Biology

English

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Muscle Coenzyme Q Deficiency in Familial Mitochondrial Encephalomyopathy.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme a Dehydrogenase Deficiency

Case Reports in Critical Care

English

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals With Leigh-Like Encephalomyopathy

American Journal of Human Genetics

English

Mitofusins Deficiency Elicits Mitochondrial Metabolic Reprogramming to Pluripotency

Cell Death and Differentiation

Molecular Biology

English

Recurrent De Novo Mitochondrial DNA Mutations in Respiratory Chain Deficiency

Journal of Medical Genetics

English

Clinical Syndromes Associated With Coenzyme Q 10 Deficiency

Essays in Biochemistry

Molecular Biology

English

Functional Consequences of Mitochondrial tRNATrp and tRNAArg Mutations Causing Combined OXPHOS Defects

European Journal of Human Genetics

English

Prevalence of Metabolic Syndrome in COPD Patients and Its Consequences

Multidisciplinary

English

Molecular Analysis of Mitochondrial Gene Mutations in Korean Patients With Nonsyndromic Hearing Loss

International Journal of Molecular Medicine

English