DiMauro, Salvatore

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., et al. (2000) · Nature

Glycogen Storage Diseases and MyoclonusLysosomal Storage Disorders Research

Cited by 959

Human mitochondrial DNA: roles of inherited and somatic mutations

Schon, E. A., DiMauro, S., & Hirano, M. (2012) · Nature Reviews Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 757

Diagnosis and management of mitochondrial disease: a consensus statement from the mitochondrial medicine society

Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R., Anselm, I., Cohen, B. H., Falk, M. J., Greene, C., et al. (2015) · Genetics in Medicine

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 607

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Spinazzola, A., Viscomi, C., Fernandez-Vizarra, E., Carrara, F., D'Adamo, P., Calvo, S., Marsano, R. M., Donnini, C., Weiher, H., Strisciuglio, P., et al. (2006) · Nature Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 427

Early‐onset familial parkinsonism due to POLG mutations

Davidzon, G., Greene, P., Mancuso, M., Klos, K. J., Ahlskog, J. E., Hirano, M., & DiMauro, S. (2006) · Annals of Neurology

Parkinson's Disease Mechanisms and TreatmentsMitochondrial Function and Pathology

Cited by 239

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Kornblum, C., Nicholls, T. J., Haack, T. B., Schöler, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., et al. (2013) · Nature Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 232

Heterogeneity of Coenzyme Q10Deficiency: Patient Study and Literature Review

Emmanuele, V., López, L. C., Berardo, A., Naini, A., Tadesse, S., Wen, B., D’Agostino, E., Solomon, M., DiMauro, S., Quinzii, C., et al. (2012) · Archives of Neurology

Coenzyme Q10 studies and effectsMetabolism and Genetic Disorders

Cited by 214

Mitochondrial abnormalities in temporal lobe of autistic brain

Tang, G., Gutierrez Rios, P., Kuo, S.-H., Akman, H. O., Rosoklija, G., Tanji, K., Dwork, A., Schon, E. A., DiMauro, S., Goldman, J., et al. (2013) · Neurobiology of Disease

Autism Spectrum Disorder ResearchMitochondrial Function and Pathology

Cited by 194

Muscle coenzyme Q10 level in statin-related myopathy

Lamperti, C., Naini, A. B., Lucchini, V., Prelle, A., Bresolin, N., Moggio, M., Sciacco, M., Kaufmann, P., & DiMauro, S. (2005) · Archives of Neurology

Coenzyme Q10 studies and effectsLipoproteins and Cardiovascular Health

Cited by 178

A Novel Polymerase γ Mutation in a Family With Ophthalmoplegia, Neuropathy, and Parkinsonism

Mancuso, M., Filosto, M., Oh, S. J., & DiMauro, S. (2004) · Archives of Neurology

Mitochondrial Function and PathologyParkinson's Disease Mechanisms and Treatments

Cited by 92

Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript

Alemi, M., Prigione, A., Wong, A., Schoenfeld, R., DiMauro, S., Hirano, M., Taroni, F., & Cortopassi, G. (2007) · Free Radical Biology and Medicine

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 50

Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency

Sadat, R., Barca, E., Masand, R., Donti, T. R., Naini, A., De Vivo, D. C., DiMauro, S., Hanchard, N. A., & Graham, B. H. (2016) · Molecular Genetics and Metabolism

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 38