A Brief History of Mitochondrial Pathologies

by Salvatore DiMauro
Published 2019-11-01

Miopatia por deficiência de succinato-citocromo-C-redutase: possível defeito no complexo II da cadeia respiratória

by Lineu Cesar Werneck, Salvatore DiMauro
Published 1989-12-01

Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease

by Michael Schlame, Sara Shanske, Steven Doty, Thomas König, Thomas Sculco, Salvatore DiMauro, Thomas J.J. Blanck
Published 1999-09-01

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects.

by Luis C López, Catarina M Quinzii, Estela Area, Ali Naini, Shamima Rahman, Markus Schuelke, Leonardo Salviati, Salvatore Dimauro, Michio Hirano
Published 2010-07-01

A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.

by Francesco Pallotti, Giorgio Binelli, Raffaella Fabbri, Maria L Valentino, Rossella Vicenti, Maria Macciocca, Sabina Cevoli, Agostino Baruzzi, Salvatore DiMauro, Valerio Carelli
Published 2014-01-01

Mitochondrial myopathy and myoclonic epilepsy

by Walter O. Arruda, Luiz F. B. Torres, Anne lombes, Salvatore Dimauro, Belkiss A. Cardoso, Hélio A. G. Teive, Duilton de Paola, Ricardo R. Seixas
Published 1990-03-01

Mitochondrial abnormalities in temporal lobe of autistic brain

by Guomei Tang, Puri Gutierrez Rios, Sheng-Han Kuo, Hasan Orhan Akman, Gorazd Rosoklija, Kurenai Tanji, Andrew Dwork, Eric A. Schon, Salvatore DiMauro, James Goldman, David Sulzer
Published 2013-06-01

A De Novo Mutation in Causes Generalized Dystonia in 2 Unrelated Children

by Yasemin Gulcan Kurt MD, Jorida Çoku MS, H. Orhan Akman PhD, Ali Naini PhD, Jesheng Lu PhD, Kristin Engelstad MS, Michio Hirano MD, Darryl C. De Vivo MD, Salvatore DiMauro MD
Published 2016-03-01

Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.

by Karen M Vernau, Jonathan A Runstadler, Emily A Brown, Jessie M Cameron, Heather J Huson, Robert J Higgins, Cameron Ackerley, Beverly K Sturges, Peter J Dickinson, Birgit Puschner, Cecilia Giulivi, G Diane Shelton, Brian H Robinson, Salvatore DiMauro, Andrew W Bollen, Danika L Bannasch
Published 2013-01-01