Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

A. Delmiro · SciRah

Researcher profile · Semantic Scholar

A. Delmiro

Share profile

A. Delmiro — researcher profile on SciRah

h-index: 14
Works: 37
Citations: 662

Most-cited papers

COX7A2L is a mitochondrial complex III-binding protein that stabilizes the III2+IV supercomplex without affecting respirasome formation
Rafael Pérez-Pérez, Teresa Lobo-Jarne, Dusanka Milenkovic, A. Mourier +10 more
2016Cell Reports111 citations Open access
Semantic Scholar
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
D. Yubero, R. Montero, M. Martín, J. Montoya +50 more
2016Mitochondrion (Amsterdam. Print)73 citations Open access
Semantic Scholar
CSVS, a crowdsourcing database of the Spanish population genetic variability
M. Peña-Chilet, G. Roldán, J. Pérez-Florido, F. Ortuño +56 more
2020Nucleic Acids Res.51 citations Open access
Semantic Scholar
Bulk autophagy, but not mitophagy, is increased in cellular model of mitochondrial disease.
M. Morán, A. Delmiro, A. Blázquez, C. Ugalde +2 more
2014Biochimica et Biophysica Acta42 citations Open access
Semantic Scholar
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome
Henry Rivera, E. Martín-Hernández, A. Delmiro, M. García-Silva +5 more
2013BMC Nephrology39 citations Open access
Semantic Scholar
Whole‐Exome Sequencing Identifies a Variant of the Mitochondrial MT‐ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox–Gastaut Syndrome
A. Delmiro, Henry Rivera, M. T. García-Silva, I. García-Consuegra +7 more
2013Human Mutation33 citations
Semantic Scholar
Exercise training can induce cardiac autophagy at end-stage chronic conditions: insights from a graft-versus-host-disease mouse model.
C. Fiuza-Luces, A. Delmiro, L. Soares-Miranda, Á. Gónzalez-Murillo +4 more
2014Brain, behavior, and immunity32 citations
Semantic Scholar
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Susana Peralta, A. González-Quintana, M. Ybarra, A. Delmiro +6 more
2019Molecular Genetics and Metabolism31 citations
Semantic Scholar
iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis
J. Mateos, Arancha Landeira-Abia, J. Fafián-Labora, P. Fernandez-Pernas +7 more
2015Stem cell research & therapeutics31 citations Open access
Semantic Scholar
Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.
M. Castro-Gago, David Dacruz-Álvarez, E. Pintos-Martínez, Andrés Beiras-Iglesias +4 more
2014European journal of paediatric neurology30 citations Open access
Semantic Scholar
Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy
Yolanda Cámara, L. Carreño-Gago, M. Martín, M. Melià +14 more
2015Neurology26 citations Open access
Semantic Scholar
Plasma LDH: A specific biomarker for lung affectation in COVID-19?
Pablo Serrano-Lorenzo, Olga N. Coya, Ana E Lopez-Jimenez, A. Blázquez +8 more
2021Practical Laboratory Medicine25 citations Open access
Semantic Scholar
Exercise benefits in chronic graft versus host disease: a murine model study.
C. Fiuza-Luces, L. Soares-Miranda, Á. Gónzalez-Murillo, J. M. Palacio +7 more
2013Medicine & Science in Sports & Exercise22 citations Open access
Semantic Scholar
Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders
C. Fiuza-Luces, J. Díez-Bermejo, Miguel Fernández-de la Torre, G. Rodríguez-Romo +10 more
2018Medicine & Science in Sports & Exercise17 citations Open access
Semantic Scholar
A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis
Fernando Gallego-Bustos, Valer Gotea, J. Ramos-Amador, R. Rodríguez‐Pena +7 more
2016Frontiers in Immunology14 citations Open access
Semantic Scholar
High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome
M. P. Guerrero-Molina, M. Morales-Conejo, A. Delmiro, M. Morán +6 more
2022European Journal of Neurology13 citations
Semantic Scholar
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects
N. Bujan, C. Morén, F. J. García-García, A. Blázquez +15 more
2022Antioxidants12 citations Open access
Semantic Scholar
Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome
M. P. Guerrero-Molina, M. Morales-Conejo, A. Delmiro, M. Morán +6 more
2022Journal of Neurology11 citations Open access
Semantic Scholar
The Mitochondrial Isoform of FASTK Modulates Nonopsonic Phagocytosis of Bacteria by Macrophages via Regulation of Respiratory Complex I
Ana García Del Río, A. Delmiro, M. Martín, R. Cantalapiedra +8 more
2018Journal of Immunology9 citations Open access
Semantic Scholar
A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy.
A. Hernández-Laín, A. Guerrero, C. Domínguez-gonzález, I. Fernández-Vázquez +7 more
2015Journal of Neurological Sciences9 citations
Semantic Scholar
Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study
S. Laine-Menéndez, C. Domínguez-González, A. Blázquez, A. Delmiro +6 more
2021International Journal of Molecular Sciences8 citations Open access
Semantic Scholar
Soluble fms-like tyrosine kinase-1: a potential early predictor of respiratory failure in COVID-19 patients
José L Eguiburu-Jaime, A. Delmiro, A. Lalueza, P. L. Valenzuela +6 more
2021Clinical Chemistry and Laboratory Medicine7 citations Open access
Semantic Scholar
A crowdsourcing database for the copy-number variation of the Spanish population
D. López-López, G. Roldán, J. L. Fernández-Rueda, G. Bostelmann +51 more
2023Human Genomics4 citations Open access
Semantic Scholar
Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation
M. P. Guerrero-Molina, Á. Bernabéu-Sanz, A. Ramos-González, M. Morales-Conejo +5 more
2023Neuroradiology4 citations
Semantic Scholar
The Spanish Polygenic Score reference distribution: a resource for personalized medicine
R. Carmona, G. Roldán, J. L. Fernández-Rueda, Arcadi Navarro +47 more
2025European Journal of Human Genetics2 citations Open access
Semantic Scholar
Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse
Miguel Fernández de la Torre, C. Fiuza-Luces, S. Laine-Menéndez, A. Delmiro +4 more
2023International Journal of Molecular Sciences2 citations Open access
Semantic Scholar
Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects
S. Laine-Menéndez, Miguel Fernández-de la Torre, C. Fiuza-Luces, A. Delmiro +5 more
2022Antioxidants1 citations Open access
Semantic Scholar
Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield
Irene Gómez-Manjón, A. Moreno-Izquierdo, S. Mayo, M. Moreno-García +3 more
2018BioMed Research International1 citations Open access
Semantic Scholar
Variable skeletal muscle involvement in VARS2 mitochondrial encephalomyopathy
B. S. Millán, A. Blázquez, A. Delmiro, L. Rufián +3 more
20161 citations
Semantic Scholar
Utility of Exome Sequencing in A Familial Trio as A Diagnostic Tool in Cardiomyopathies
Irene Gómez-Manjón, A. Moreno-Izquierdo, M. Moreno-García, A. Delmiro +1 more
20161 citations
Semantic Scholar
Non-Invasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield
Irene Gómez-Manjón, A. Moreno-Izquierdo, S. Mayo, M. Moreno-García +3 more
2021Prime Archives in Biomedical Sciences0 citations Open access
Semantic Scholar
MITOCHONDRIAL DISEASES
C. Domínguez-gonzález, S. Laine-Menéndez, A. Delmiro, I. García-Consuegra +6 more
2021Neuromuscular Disorders0 citations
Semantic Scholar
P.62Muscle multiple mitochondrial DNA deletions: a genetic biomarker to detect nuclear-gene mutations in mtDNA maintenance disorders?
P. Serrano-Lorenzo, I. Hidalgo, Adrián González-Quintana, J. Docampo +7 more
2019Neuromuscular Disorders0 citations
Semantic Scholar
Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene
M. Morán, A. Blázquez, C. Fiuza-Luces, J. Díez-Bermejo +9 more
20160 citations Open access
Semantic Scholar
In vitro studies help us to inderstand the relationship between mitochondrial DNA (MTDNA) haplogroups and OA pathogenesis
M. Fernández-Moreno, T. Hermida-Gómez, A. Dalmao-Fernández, I. Rego-Pérez +10 more
20160 citations Open access
Semantic Scholar
iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis
J. Mateos, Arancha Landeira-Abia, J. Fafián-Labora, P. Fernandez-Pernas +7 more
2015Stem cell research & therapeutics0 citations Open access
Semantic Scholar
M.P.4.03 Transcript analysis for molecular characterization of “manifesting heterozygotes” patients with McArdle disease
I. García-Consuegra, Juan C. Rubio, G. Nogales, A. Delmiro +5 more
20070 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

M. Martín×21
Invite
M. Martín — researcher profile on SciRah
J. Arenas×13
Invite
J. Arenas — researcher profile on SciRah
M. Morán×12
Invite
M. Morán — researcher profile on SciRah
A. Blázquez×10
Invite
A. Blázquez — researcher profile on SciRah

C. Domínguez-gonzález

×6

Invite

C. Domínguez-gonzález — researcher profile on SciRah

C. Fiuza-Luces×6

Invite

C. Fiuza-Luces — researcher profile on SciRah

I. García-Consuegra×5

Invite

I. García-Consuegra — researcher profile on SciRah

A. Hernández-Laín×5

Invite

A. Hernández-Laín — researcher profile on SciRah

Joaquín Arenas×5

Invite

Joaquín Arenas — researcher profile on SciRah

Carmina Espinos×4

Invite

Carmina Espinos — researcher profile on SciRah

A. Moreno-Izquierdo×4

Invite

A. Moreno-Izquierdo — researcher profile on SciRah

Invite

A. Lucia — researcher profile on SciRah