A. Delmiro

发表

COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.

J. Arenas, Miguel Ángel Martín, Dusanka Milenkovic, 2016, Cell reports.

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.

M. Castro‐Gago, J. Arenas, Miguel Ángel Martín, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Utility of Exome Sequencing in A Familial Trio as A Diagnostic Tool in Cardiomyopathies

A. Delmiro, I. Gómez-Manjón, A. Moreno-Izquierdo, 2016 .

Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2022, Journal of Neurology.

Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

I. Ara, A. Lucia, I. Rodríguez-Gómez, 2018, Medicine and science in sports and exercise.

Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study

Miguel Ángel Martín, A. Delmiro, I. García‐Consuegra, 2021, International journal of molecular sciences.

Bulk autophagy, but not mitophagy, is increased in cellular model of mitochondrial disease.

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2014, Biochimica et biophysica acta.

Exercise training can induce cardiac autophagy at end-stage chronic conditions: Insights from a graft-versus-host-disease mouse model

A. Lucia, C. Fiuza-Luces, A. Delmiro, 2014, Brain, Behavior, and Immunity.

Soluble fms-like tyrosine kinase-1: a potential early predictor of respiratory failure in COVID-19 patients

A. Lucia, J. Arenas, Miguel Ángel Martín, 2021, Clinical chemistry and laboratory medicine.

iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis

Miguel Ángel Martín, J. Fafián-Labora, P. Fernández-Pernas, 2015, Stem Cell Research & Therapy.

Whole‐Exome Sequencing Identifies a Variant of the Mitochondrial MT‐ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox–Gastaut Syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2013, Human mutation.

Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects

P. Boya, J. Arenas, Miguel Ángel Martín, 2022, Antioxidants.

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

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

A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2015, Journal of the Neurological Sciences.

Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy

B. Bornstein, Miguel Ángel Martín, E. García-Arumí, 2015, Neurology.

A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis

L. Elnitski, Valer Gotea, Ghadi Rai, 2016, Front. Immunol..

Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.

J. Arenas, Miguel Ángel Martín, J. Docampo, 2019, Molecular genetics and metabolism.

The Mitochondrial Isoform of FASTK Modulates Nonopsonic Phagocytosis of Bacteria by Macrophages via Regulation of Respiratory Complex I

Miguel Ángel Martín, A. Delmiro, P. Serrano-Lorenzo, 2018, The Journal of Immunology.

A crowdsourcing database for the copy-number variation of the Spanish population

Jose L. Fernandez-Rueda, Luis Antonio Castaño, J. Dopazo, 2023, Human Genomics.

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome

J. Arenas, A. Delmiro, F. Martínez-Azorín, 2017, Clinical genetics.

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield

A. Delmiro, S. Mayo, D. Escribano, 2018, BioMed research international.

iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis

Miguel Ángel Martín, J. Fafián-Labora, P. Fernández-Pernas, 2015, Stem Cell Research & Therapy.

Exercise benefits in chronic graft versus host disease: a murine model study.

A. Lucia, G. Melen, C. Fiuza-Luces, 2013, Medicine and science in sports and exercise.

CSVS, a crowdsourcing database of the Spanish population genetic variability

Carlos Loucera, Joaquín Dopazo, Aurora Pujol, 2020, Nucleic Acids Res..

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2013, BMC Nephrology.

Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

E. Ruiz-Pesini, Miguel Ángel Martín, E. García-Arumí, 2022, Antioxidants.

Plasma LDH: A specific biomarker for lung affectation in COVID-19?

A. Lucia, J. Arenas, Miguel Ángel Martín, 2021, Practical Laboratory Medicine.

Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse

J. Arenas, Miguel Ángel Martín, C. Fiuza-Luces, 2023, International journal of molecular sciences.

Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2022, Journal of Neurology.

High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2023 .

Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.

A. Delmiro, J. González de la Aleja, Á. Bernabéu-Sanz, 2023, Neuroradiology.