List of works - Joél Smet

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

scientific article

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

scientific article

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

scientific article published on 16 January 2010

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

scientific article published on 01 January 2004

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

scientific article published in November 2001

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

scientific article published on 23 May 2010

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

scientific article

Complex III staining in blue native polyacrylamide gels

scientific article

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

scientific article

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).

scientific article published on 28 June 2013

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

scientific article published on 26 April 2013

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

scientific article

Lactic acidosis in a newborn with adrenal calcifications

scientific article published in September 2009

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

scientific article

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

scientific article

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

scientific article

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

scientific article

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

scientific article published in August 2012

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

scientific article published on 6 March 2013

List of works by 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.