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

Carlos T. Moraes, Salvatore DiMauro, Massimo Zeviani, +17

New England Journal of Medicine

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

Ichizo Nishino, Jin Fu, Kurenai Tanji, +16

Nature

OphthalmologyMedicinePathologyDanon DiseaseX-linked Vacuolar Cardiomyopathy +1

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

Eduardo Bonilla, Craig E. Samitt, Armand F. Miranda, +6

Cell

Muscle FunctionKinesiologyMuscle InjurySkeletal MuscleDuchenne Muscular Dystrophy +6

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

Lefkothea C. Papadopoulou, Carolyn M. Sue, Mercy M. Davidson, +18

Nature Genetics

CardiomyopathyHeart FailureGenetic DisorderGeneticsPathology +8

Exercise Intolerance Due to Mutations in the Cytochrome<i>b</i>Gene of Mitochondrial DNA

Antoni L. Andreu, Michael G. Hanna, Heinz Reichmann, +16

New England Journal of Medicine

<i>N</i> ‐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, +16

Arthritis & Rheumatism

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

David Fernández, Eduardo Bonilla, Naureen Mirza, +2

Arthritis & Rheumatism

Activation of Mammalian Target of Rapamycin Controls the Loss of TCRζ in Lupus T Cells through HRES-1/Rab4-Regulated Lysosomal Degradation

David Fernández, Tiffany Telarico, Eduardo Bonilla, +8

The Journal of Immunology

[43]Cytochemistry and immunocytochemistry of mitochondria in tissue sections

Monica Sciacco, Eduardo Bonilla

Methods in enzymology on CD-ROM/Methods in enzymology

BiochemistryMitochondrial FunctionTissue SectionsMitochondrial StructureMitochondrial Biology +2

Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 Gene

Charalampos Karadimas, Tuan Vu, Stephen A. Holve, +11

The American Journal of Human Genetics

Mpv17 GeneGeneticsPathologyNavajo Neurohepatopathy IsNeurology +3