S
Salvatore DiMauro
Researcher at Columbia University Medical Center
Publications - 651
Citations - 53843
Salvatore DiMauro is an academic researcher from Columbia University Medical Center. The author has contributed to research in topics: Mitochondrial DNA & Mitochondrial myopathy. The author has an hindex of 119, co-authored 647 publications receiving 51435 citations. Previous affiliations of Salvatore DiMauro include Baylor College of Medicine & Royal Children's Hospital.
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Mitochondrial respiratory-chain diseases
Salvatore DiMauro,Eric A. Schon +1 more
TL;DR: The mitochondrial respiratory chain has the crucial function of supplying the cell with energy in the form of ATP, and mutations affecting this chain can arise in mitochondrial or nuclear DNA and cause diseases known as mitochondrial encephalomyopathies.
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Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.
Steven G. Pavlakis,Peter C. Phillips,Salvatore DiMauro,Darryl C. De Vivo,Darryl C. De Vivo,Lewis P. Rowland +5 more
TL;DR: It is believed that MELAS represents a distinctive syndrome and that it can be differentiated from two other clinical disorders that also are associated with mitochondrial myopathy and cerebral disease: Kearns‐Sayre syndrome and the myoclonus epilepsy ragged red fiber syndrome.
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Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
Carlos T. Moraes,Salvatore DiMauro,Massimo Zeviani,Anne Lombès,Sara Shanske,Armand F. Miranda,Hirofumi Nakase,Eduardo Bonilla,Lineu Cesar Werneck,Serenella Servidei,Ikuya Nonaka,Yasutoshi Koga,Alfred J. Spiro,A. Keith W. Brownell,Beny Schmidt,Donald L. Schotland,Mary L. Zupanc,Darryl C. DeVivo,Eric A. Schon,Lewis P. Rowland +19 more
TL;DR: It is concluded that deletions of muscle mitochondrial DNA are associated with ophthalmoplegia and may result in impaired mitochondrial function, however, the precise relation between clinical and biochemical phenotypes and deletions remains to be defined.
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Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
Ichizo Nishino,Jin Fu,Kurenai Tanji,Takeshi Yamada,Sadatomo Shimojo,Tateo Koori,Marina Mora,Jack E. Riggs,Shin J. Oh,Yasutoshi Koga,Carolyn M. Sue,Ayaka Yamamoto,Nobuyuki Murakami,Sara Shanske,Edward Byrne,Eduardo Bonilla,Ikuya Nonaka,Salvatore DiMauro,Michio Hirano +18 more
TL;DR: It is concluded that primary LAMP-2 deficiency is the cause of Danon disease and this is the first example of human cardiopathy–myopathy that is caused by mutations in a lysosomal structural protein rather than an enzymatic protein.
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Inclusion body myositis and myopathies.
Robert C. Griggs,Valerie Askanas,Salvatore DiMauro,Andrew G. Engel,George Karpati,Jerry R. Mendell,Lewis P. Rowland +6 more
TL;DR: Newest approaches to diagnosis and pathogenesis of sporadic inclusion-body myositis and hereditary inclusion- body myopathies, including molecular-pathologic similarities to Alzheimer disease are introduced.