A. González-Quintana

发表

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.

Missense mutations have unexpected consequences: The McArdle disease paradigm

A. Lucia, G. Nogales-Gadea, J. Arenas, 2018, Human mutation.

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

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

In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder.

E. Richard, Á. Gil-Izquierdo, A. Logan, 2016, Free radical biology & medicine.

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

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

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.

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.

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.

M. Zeviani, F. Tort, A. Ribes, 2020, Molecular genetics and metabolism.

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.

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

A. Santalla, Margarita Pérez, A. Lucia, 2017, BMC Genomics.

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma

Miguel Ángel Martín, Á. Hernández-Martín, S. Palencia-Pérez, 2023, Genes.