Jorida Coku

发表

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Robert W. Taylor, S. Dimauro, S. Marie, 2009, Brain : a journal of neurology.

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

S. Dimauro, R. Carrozzo, M. Koenig, 2010, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia

S. Dimauro, K. Tanji, E. Sotiriou, 2009, Neuromuscular Disorders.

Kearns-Sayre Syndrome Presenting as Complete Heart Block

S. Chawla, S. Kannan, Thomas A. Forbes, 2008, Pediatric Cardiology.

Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA(Leu) gene (m.3243A>G)

W. Chung, D. Vivo, D. Vinck, 2008, Journal of Inherited Metabolic Disease.

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

J. Ganesh, S. Dimauro, K. Flanigan, 2008, Neuromuscular Disorders.

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.

S. Dimauro, R. Schiffmann, I. Lerer, 2015, JAMA neurology.

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS

S. Dimauro, Ying Wei, K. Engelstad, 2009, American journal of medical genetics. Part A.

Systematic, network-based characterization of therapeutic target inhibitors

Andrea Califano, Mariano J. Alvarez, Alexander Lachmann, 2017, PLoS Comput. Biol..

Reduced ER–mitochondria connectivity promotes neuroblastoma multidrug resistance

Kangning Liu, G. Hajnóczky, M. Hogarty, 2022, The EMBO journal.

Reduced ER-mitochondria connectivity promotes neuroblastoma multidrug resistance

Kangning Liu, G. Hajnóczky, M. Hogarty, 2021, bioRxiv.

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.

J. Ganesh, S. Dimauro, M. Hirano, 2008, Archives of neurology.

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNALeu(CUN) gene

S. Dimauro, K. Tanji, S. Shanske, 2010, Journal of the Neurological Sciences.

Mitochondrial myopathy associated with a novel mutation in mtDNA

S. Dimauro, J. Lu, S. Shanske, 2007, Neuromuscular Disorders.

A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children

S. Dimauro, K. Engelstad, D. D. De Vivo, 2016, Child neurology open.

Decreased hippocampal expression of calbindin D28K and cognitive impairment in MELAS

V. Emmanuele, K. Tanji, Jorida Coku, 2012, Journal of the Neurological Sciences.

A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)

S. Dimauro, M. Hirano, B. Kurt, 2010, Neuromuscular Disorders.

Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.

S. Dimauro, C. Liou, T. Fujii, 2010, Mitochondrion.