Lista de obras -

Antidepressant drugs modulate growth factors in cultured cells

artículo científico publicado en 2008

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

article

CAD mutations and uridine-responsive epileptic encephalopathy.

artículo científico publicado en 2016

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

artículo científico publicado en 2015

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

artículo científico publicado en 2015

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

Electrophoretic separation of amyloid beta peptides in plasma.

artículo científico publicado en 2004

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

artículo científico publicado en 2012

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

artículo científico publicado en 2012

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

artículo científico publicado en 2012

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

artículo científico publicado en 2011

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

artículo científico publicado en 2013

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

artículo científico

Spectrum of combined respiratory chain defects

artículo científico publicado en 2015

Spontaneous magnetoencephalographic activity in patients with obsessive-compulsive disorder

artículo científico publicado en 2006

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

scientific journal article

The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era

artículo científico publicado en 2020

Lista de obras de

Antidepressant drugs modulate growth factors in cultured cells

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

CAD mutations and uridine-responsive epileptic encephalopathy.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Electrophoretic separation of amyloid beta peptides in plasma.

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

Spectrum of combined respiratory chain defects

Spontaneous magnetoencephalographic activity in patients with obsessive-compulsive disorder

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era