Eduardo Bonilla

Overview

Best Publications

• Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

  Carlos T. Moraes;Salvatore Dimauro;Massimo Zeviani;Anne Lombes

  1198
  Citations

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

  Ichizo Nishino;Jin Fu;Kurenai Tanji;Takeshi Yamada

  1058
  Citations

• Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

  M. Zeviani;C. T. Moraes;S. DiMauro;H. Nakase

  966
  Citations

• Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface

  Eduardo Bonilla;Craig E. Samitt;Armand F. Miranda;Armand F. Miranda;Arthur P. Hays;Arthur P. Hays

  752
  Citations

• mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

  Carlos T. Moraes;Sara Shanske;Hans Jürgen Tritschler;June R. Aprille

  711
  Citations

• Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

  L C Papadopoulou;C M Sue;M M Davidson;K Tanji

  674
  Citations

• Mitochondrial DNA mutations and pathogenesis.

  Eric A. Schon;Eduardo Bonilla;Salvatore DiMauro

  605
  Citations

• MELAS: Clinical features, biochemistry, and molecular genetics

  E. Ciafaloni;E. Ricci;S. Shanske;C. T. Moraes

  601
  Citations

• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

  Michio Hirano;G. Silvestri;D. M. Blake;A. Lombes

  489
  Citations

• Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA

  Antoni L. Andreu;Michael G. Hanna;Heinz Reichmann;Claudio Bruno

  481
  Citations

• N-acetylcysteine reduces disease activity by blocking mammalian target of rapamycin in T cells from systemic lupus erythematosus patients: A randomized, double-blind, placebo-controlled trial

  Zhi-Wei Lai;Robert Hanczko;Eduardo Bonilla;Tiffany N. Caza

  474
  Citations

• Rapamycin reduces disease activity and normalizes T cell activation–induced calcium fluxing in patients with systemic lupus erythematosus

  David Fernandez;Eduardo Bonilla;Naureen Mirza;Brian Niland

  424
  Citations

• Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

  I Nishino;A Spinazzola;A Papadimitriou;S Hammans

  397
  Citations

• The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

  C T Moraes;E Ricci;E Bonilla;S DiMauro

  351
  Citations

• Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

  Monica Sciacco;Eduardo Bonilla;Eric A. Schon;Salvatore DiMauro

  336
  Citations

• Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

  Carlos T. Moraes;Federica Ciacci;Gabriella Silvestri;Sara Shanske

  306
  Citations

• Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.

  Shuji Mita;Beny Schmidt;Eric A. Schon;Salvatore Dimauro

  288
  Citations

• Acute quadriplegic myopathy: a complication of treatment with steroids, nondepolarizing blocking agents, or both.

  Michio Hirano;B. R. Ott;E. C. Raps;C. Minetti

  282
  Citations

• Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

  H.-J. Tritschler;H.-J. Tritschler;F. Andreetta;C. T. Moraes;E. Bonilla

  278
  Citations

• [43]Cytochemistry and immunocytochemistry of mitochondria in tissue sections

  Monica Sciacco;Eduardo Bonilla

  275
  Citations