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Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

Human molecular genetics, 2014-04, Vol.23 (8), p.2106-2119

2014

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Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations

Journal of Medical Genetics, 2014-07, Vol.51 (7), p.429-435

2014

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The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Abolishes the Enzymatic Activity of Complex II in the Mitochondrial Respiratory Chain and Activates the Hypoxia Pathway

American journal of human genetics, 2001-12, Vol.69 (6), p.1186-1197

2001

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Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

The Lancet (British edition), 1999-08, Vol.354 (9177), p.477-479

1999

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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

Nature genetics, 1997-10, Vol.17 (2), p.215-217

1997

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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Nature genetics, 2001-09, Vol.29 (1), p.57-60

2001

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Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

Biochimica et biophysica acta, 2009-12, Vol.1792 (12), p.1109-1112

2009

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Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues

The Lancet (British edition), 1999-09, Vol.354 (9184), p.1084-1089

1999

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Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

American journal of human genetics, 2000-11, Vol.67 (5), p.1104-1109

2000

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Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

Journal of medical genetics, 2003-12, Vol.40 (12), p.896-899

2003

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The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

Journal of medical genetics, 2003-03, Vol.40 (3), p.188-191

2003

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Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development

Journal of medical genetics, 2006-10, Vol.43 (10), p.788-792

2006

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A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency

Human molecular genetics, 2000-05, Vol.9 (8), p.1245-1249

2000

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Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

Human molecular genetics, 2001-09, Vol.10 (19), p.2061-2067

2001

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Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

American journal of human genetics, 2001-06, Vol.68 (6), p.1344-1352

2001

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Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA

Human molecular genetics, 2001-05, Vol.10 (11), p.1221-1228

2001

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A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

European journal of medical genetics, 2013-12, Vol.56 (12), p.683-685

2013

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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Clinical genetics, 2017-08, Vol.92 (2), p.188-198

2017

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Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits

Molecular genetics and metabolism, 2002-09, Vol.77 (1-2), p.21-30

2002

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The kidney in mitochondrial cytopathies

Kidney international, 1997-04, Vol.51 (4), p.1000-1007

1997

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Heart Hypertrophy and Function Are Improved by Idebenone in Friedreich's Ataxia

Free radical research, 2002-04, Vol.36 (4), p.467-469

2002

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Mitochondrial ND5 mutations mimicking brainstem tectal glioma

Neurology, 2010-07, Vol.75 (1), p.93

2010

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Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo‐obstruction

Neurogastroenterology and motility, 2011-01, Vol.23 (1), p.24-e1

2011

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Molecular insights into Friedreich's ataxia and antioxidant-based therapies

Trends in Molecular Medicine, 2002-05, Vol.8 (5), p.221-224

2002

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Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial

Neurology, 2004-02, Vol.62 (3), p.524

2004

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Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations

The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Abolishes the Enzymatic Activity of Complex II in the Mitochondrial Respiratory Chain and Activates the Hypoxia Pathway

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues

Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development

A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits

The kidney in mitochondrial cytopathies

Heart Hypertrophy and Function Are Improved by Idebenone in Friedreich's Ataxia

Mitochondrial ND5 mutations mimicking brainstem tectal glioma

Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo‐obstruction

Molecular insights into Friedreich's ataxia and antioxidant-based therapies

Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial

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