A. Blázquez

发表

Mitochondrial Respiration Controls Lysosomal Function during Inflammatory T Cell Responses.

J. Redondo, J. Falcón-Pérez, J. Enríquez, 2015, Cell metabolism.

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.

Covariate Effects on the Apparent Clearance of Tacrolimus in Paediatric Liver Transplant Patients Undergoing Conversion Therapy

C. Manzanares, J. Manzanares, D. Santos-Buelga, 2001, Clinical Pharmacokinetics.

Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease

A. Lucia, G. Nogales-Gadea, J. Arenas, 2016, Genetics in Medicine.

This information is current as Explanation for Poststroke Infections Stroke : Mitochondrial DNA as a Putative Tolerance Status after Acute Ischemic Circulating Monocytes Exhibit an Endotoxin

Berta, M. Gutiérrez-Fernández, B. Fuentes, 2017 .

When should a nephrologist suspect a mitochondrial disease?

T. Cavero, Miguel Ángel Martín, M. Praga, 2015, Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia.

Circulating Monocytes Exhibit an Endotoxin Tolerance Status after Acute Ischemic Stroke: Mitochondrial DNA as a Putative Explanation for Poststroke Infections

E. López-Collazo, M. Gutiérrez-Fernández, B. Rodríguez-Frutos, 2017, The Journal of Immunology.

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

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

Mitochondrial Complex III Deficiency of Nuclear Origin

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2013 .

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

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

Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study

J. Arenas, D. Lora, J. García-García, 2022, Neuromuscular Disorders.

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia

J. Arenas, Miguel Ángel Martín, P. Serrano-Lorenzo, 2020, Journal of Medical Genetics.

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

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

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.

E. Ruiz-Pesini, A. Ormazabal, R. Artuch, 2010 .

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency

S. Seneca, J. Arenas, Miguel Ángel Martín, 2010, Human mutation.

Mitochondrial disorders due to nuclear OXPHOS gene defects.

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2009, Advances in experimental medicine and biology.

Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report

A. Lucia, J. Arenas, Miguel Ángel Martín, 2020, Genes.

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population

J. Arenas, Miguel Ángel Martín, P. Serrano-Lorenzo, 2019, Genes.

Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.

B. Merinero, J. Arenas, Miguel Ángel Martín, 2010, Biochimica et biophysica acta.

Beyond cervical lipomas: myoclonus, gait disorder and multisystem involvement leading to mitochondrial disease

R. López-Blanco, A. Blázquez, A. Rojo-Sebastián, 2017, BMJ Case Reports.

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients

Alejandro Lucia, Ana Cabello, Alberto Blazquez, 2007, Human mutation.

Molecular Analysis of Myophosphorylase Deficiency in Dutch Patients with McArdle's Disease

B. V. van Engelen, R. Wevers, J. Arenas, 2004, Annals of human genetics.

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity

Miguel Ángel Martín, M. Montero, C. Ayuso, 2016, PloS one.

Molecular Genetics of OXPHOS Disorders

J. Arenas, Miguel Ángel Martín, A. Blázquez, 2016 .

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.

Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

J. Carretero, J. Arenas, Miguel Ángel Martín, 2007, Neuromuscular Disorders.

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

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

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

J. Arenas, Miguel Ángel Martín, P. Serrano-Lorenzo, 2022, Genes.

Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

S. Seneca, T. Gabaldón, J. Arenas, 2009, Mitochondrion.

Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2009, Neuromuscular Disorders.

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

B. Bornstein, J. Arenas, Miguel Ángel Martín, 2006, Archives of neurology.

Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress

Miguel Ángel Martín, E. García-Arumí, E. Gallardo, 2018, Free radical biology & medicine.

Impact of the Mitochondrial Genetic Background in Complex III Deficiency

T. Gabaldón, J. Arenas, Miguel Ángel Martín, 2010, PloS one.

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.

J. Arenas, Miguel Ángel Martín, P. Briones, 2005, Archives of neurology.

Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation.

A. Lucia, J. Arenas, Miguel Ángel Martín, 2020, Molecular genetics and metabolism.

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2023, International journal of molecular sciences.

Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE

J. Arenas, A. Andreu, R. Garesse, 2005, Neuromuscular Disorders.

Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE

J. Arenas, A. Andreu, Y. Campos, 2004, Neurology.

Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome

Miguel Ángel Martín, D. Lora, P. Serrano-Lorenzo, 2023, Journal of clinical medicine.

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

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

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2

Miguel Ángel Martín, M. Moreno-García, A. Arteche-López, 2021, European Journal of Human Genetics.

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.

Novel mutation in the PYGM gene resulting in McArdle disease.

A. Lucia, I. Férnandez-Cadenas, J. Arenas, 2006, Archives of neurology.

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

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

Serum lipids, lipoproteins and apolipoproteins A and B in epileptic patients treated with valproic acid, carbamazepine or phenobarbital

E. Calandre, A. Blázquez, D. Cano, 1991, Acta neurologica Scandinavica.

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features.

B. Bornstein, P. García-Pavía, Miguel Ángel Martín, 2013, Circulation journal : official journal of the Japanese Circulation Society.

Clinical and Genetic Analysis of Patients With TK2 Deficiency

C. Domínguez-González, A. Blázquez, J. Quesada-Espinosa, 2024, Neurology. Genetics.