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Publications by Salvatore DiMauro

Mitochondrial Diseases in North America

Neurology: Genetics
NeurologyGenetics
2020English

Slowly Progressive Encephalopathy With Hearing Loss Due to a Mutation in the mtDNA tRNALeu(CUN) Gene

Journal of the Neurological Sciences
Neurology
2010English

Short Communication: Transplacental Nucleoside Analogue Exposure and Mitochondrial Parameters in HIV-Uninfected Children

AIDS Research and Human Retroviruses
VirologyInfectious DiseasesImmunology
2011English

Treatment of CoQ10 Deficient Fibroblasts With Ubiquinone, CoQ Analogs, and Vitamin C: Time- And Compound-Dependent Effects

PLoS ONE
Multidisciplinary
2010English

Mutation in an mtDNA Protein-Coding Gene

Journal of Child Neurology
Child HealthNeurologyPediatricsPerinatology
2012English

CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine
Alternative MedicineComplementary
2012English

Mitochondrial Myopathies

Annals of Neurology
Neurology
1985English

Respiratory Chain Dysfunction and Oxidative Stress Correlate With Severity of Primary CoQ10 Deficiency

FASEB Journal
BiochemistryBiotechnologyGeneticsMolecular BiologyMedicine
2008English

A Critical Approach to the Therapy of Mitochondrial Respiratory Chain and Oxidative Phosphorylation Diseases

Biochimica et Biophysica Acta - Molecular Basis of Disease
Molecular MedicineMolecular Biology
2009English

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