List of works - Blázquez A

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

scientific article published on 2 September 2015

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

scientific article

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

scientific article published on 01 January 2006

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

scientific article published on 19 June 2017

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

scientific article published on 02 April 2014

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features

scientific article published on 20 August 2013

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

scientific article published in August 2010

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

scientific article published on 23 January 2017

Covariate effects on the apparent clearance of tacrolimus in paediatric liver transplant patients undergoing conversion therapy.

scientific article

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

scientific article published on 20 August 2018

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

scientific article

Impact of the mitochondrial genetic background in complex III deficiency

scientific article

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

scientific article

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

scientific article

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

scientific article published on 05 July 2007

Mitochondrial Respiration Controls Lysosomal Function during Inflammatory T Cell Responses.

scientific article published on 19 August 2015

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

scientific article

Mitochondrial disorders due to nuclear OXPHOS gene defects.

scientific article published on January 2009

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

scientific article

Novel mutation in the PYGM gene resulting in McArdle disease.

scientific article

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

scientific article published on 21 April 2009

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

scientific article published on 30 June 2016

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

scientific article

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

scientific article published on 25 February 2016

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

scientific article published on 3 June 2016

When should a nephrologist suspect a mitochondrial disease?

scientific article

List of works by Blázquez A

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

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

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

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

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

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features

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

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

Covariate effects on the apparent clearance of tacrolimus in paediatric liver transplant patients undergoing conversion therapy.

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

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

Impact of the mitochondrial genetic background in complex III deficiency

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

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

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

Mitochondrial Respiration Controls Lysosomal Function during Inflammatory T Cell Responses.

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

Mitochondrial disorders due to nuclear OXPHOS gene defects.

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

Novel mutation in the PYGM gene resulting in McArdle disease.

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

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

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

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

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

When should a nephrologist suspect a mitochondrial disease?