Lista de obras - Joél Smet - Dominio Público Uruguay

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

artículo científico publicado en 2006

A systems biology strategy reveals biological pathways and plasma biomarker candidates for potentially toxic statin-induced changes in muscle

artículo científico publicado en 2006

Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia

artículo científico publicado en 2010

Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency

artículo científico publicado en 2004

Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects

artículo científico publicado en 2001

Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Complex III staining in blue native polyacrylamide gels

artículo científico publicado en 2011

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects

artículo científico publicado en 2005

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).

artículo científico publicado en 2013

Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects

artículo científico publicado en 2013

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.

artículo científico publicado en 2012

Lactic acidosis in a newborn with adrenal calcifications

artículo científico publicado en 2009

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

artículo científico publicado en 2007

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

artículo científico publicado en 2009

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

artículo científico publicado en 2014

Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function

artículo científico publicado en 2009

Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms

artículo científico publicado en 2012

Unraveling the mechanisms behind the enhanced MTT conversion by irradiated breast cancer cells.

artículo científico publicado en 2013

Lista de obras de Joél Smet

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

A systems biology strategy reveals biological pathways and plasma biomarker candidates for potentially toxic statin-induced changes in muscle

Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia

Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency

Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects

Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation

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

Complex III staining in blue native polyacrylamide gels

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).

Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.

Lactic acidosis in a newborn with adrenal calcifications

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function

Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms

Unraveling the mechanisms behind the enhanced MTT conversion by irradiated breast cancer cells.