S. Emperador

发表

Expanding the clinical phenotypes of MT-ATP6 mutations.

E. Ruiz-Pesini, R. Artuch, M. Pineda, 2014, Human molecular genetics.

R. Artuch, J. Montoya, E. López-Gallardo, 2016, Mitochondrion.

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

V. Petruzzella, J. Montoya, S. Emperador, 2018, BMC Research Notes.

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial‐peroxisomal protein

J. Armstrong, A. Ormazabal, R. Artuch, 2017, Movement disorders : official journal of the Movement Disorder Society.

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

E. Ruiz-Pesini, R. Artuch, M. Bayona-Bafaluy, 2019, Molecular genetics and metabolism.

Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

E. Ruiz-Pesini, M. Bayona-Bafaluy, J. Montoya, 2022, Orphanet Journal of Rare Diseases.

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

F. Villarroya, S. Kalko, E. Ruiz-Pesini, 2016, PloS one.

microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases

J. Montoya, S. Emperador, E. García-Arumí, 2017, Scientific Reports.

Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation

E. Ruiz-Pesini, J. Montoya, E. López-Gallardo, 2016, Environmental health perspectives.

Mitochondrial DNA disturbances and deregulated expression of oxidative phosphorylation and mitochondrial fusion proteins in sporadic inclusion body myositis.

A. Zorzano, Á. Díaz-Ramos, J. Montoya, 2016, Clinical science.

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

P. Navas, E. Ruiz-Pesini, M. O'Callaghan, 2015, European Journal of Human Genetics.

Pathological Features in Paediatric Patients with TK2 Deficiency

E. Ruiz-Pesini, C. Ortez, R. Artuch, 2022, International journal of molecular sciences.

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

P. Navas, E. Ruiz-Pesini, E. Trevisson, 2016, Mitochondrion.

Food derived respiratory complex I inhibitors modify the effect of Leber hereditary optic neuropathy mutations.

E. Ruiz-Pesini, M. Bayona-Bafaluy, J. Montoya, 2018, Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association.

Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome

E. Ruiz-Pesini, M. Bayona-Bafaluy, Nuria Garrido-Pérez, 2020, International journal of molecular sciences.

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

E. Ruiz-Pesini, A. Ormazabal, R. Artuch, 2014, Orphanet Journal of Rare Diseases.

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis

E. Ruiz-Pesini, M. Bayona-Bafaluy, J. Montoya, 2019, Clinical genetics.

Retrospective natural history of thymidine kinase 2 deficiency

Robert W. Taylor, S. Dimauro, P. Chinnery, 2018, Journal of Medical Genetics.

Human Mitochondrial DNA: Particularities and Diseases

J. Montoya, S. Emperador, T. Rhouda, 2021, Biomedicines.

Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants.

E. Ruiz-Pesini, J. Montoya, S. Emperador, 2019, Gene.

Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome

E. Ruiz-Pesini, R. Artuch, J. Montoya, 2022, Disease models & mechanisms.

An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations

E. Ruiz-Pesini, M. Bayona-Bafaluy, Nuria Garrido-Pérez, 2015, Front. Genet..

New MT‐ND1 pathologic mutation for Leber hereditary optic neuropathy

E. Ruiz-Pesini, J. Montoya, S. Emperador, 2014, Clinical & experimental ophthalmology.

Increasing mtDNA levels as therapy for mitochondrial optic neuropathies.

E. Ruiz-Pesini, J. Montoya, S. Emperador, 2018, Drug discovery today.

Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy.

E. Ruiz-Pesini, M. Bayona-Bafaluy, E. Iglesias, 2020, Mutation research.

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

E. Ruiz-Pesini, R. Artuch, M. Pineda, 2015, Mitochondrion.

Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.

E. Ruiz-Pesini, A. Ormazabal, R. Artuch, 2011, Mitochondrion.

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy

Robert W. Taylor, A. Torkamani, E. Ruiz-Pesini, 2018, Human molecular genetics.

Infectious stress triggers a POLG-related mitochondrial disease

E. Ruiz-Pesini, R. Artuch, M. Bayona-Bafaluy, 2019, neurogenetics.

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

E. Ruiz-Pesini, R. Artuch, M. Pineda, 2016, European Journal of Human Genetics.

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

E. Ruiz-Pesini, M. Bayona-Bafaluy, J. Montoya, 2019, Orphanet Journal of Rare Diseases.

The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

E. Ruiz-Pesini, R. Artuch, M. Bayona-Bafaluy, 2018, Front. Neurosci..

A novel mutation in the mitochondrial MTND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues.

E. Ruiz-Pesini, J. Arenas, Miguel Ángel Martín, 2019, Mitochondrion.

High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON).

V. Petruzzella, J. Montoya, S. Emperador, 2017, Investigative ophthalmology & visual science.

Acetylsalicylic Acid Exhibits Antitumor Effects in Esophageal Adenocarcinoma Cells In Vitro and In Vivo

Á. Lanas, S. Emperador, A. de Martino, 2016, Digestive Diseases and Sciences.

Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation

E. Ruiz-Pesini, J. Montoya, S. Emperador, 2022, Clinical Genetics.

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset

E. Ruiz-Pesini, R. Artuch, M. Pineda, 2012, neurogenetics.

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

F. Tort, P. Navas, E. Ruiz-Pesini, 2019, Journal of clinical medicine.