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Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

Journal of medical genetics, 2007-12, Vol.44 (12), p.784-786

2007

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Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

Brain (London, England : 1878), 2007-01, Vol.130 (1), p.110-119

2007

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The mitochondrial complex i inhibitor annonacin is toxic to mesencephalic dopaminergic neurons by impairment of energy metabolism

Neuroscience, 2003-01, Vol.121 (2), p.287-296

2003

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Prediction of long‐term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome

European journal of neurology, 2017-02, Vol.24 (2), p.255-261

2017

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Les approches lipidomiques et métabolomiques identifient les MAM (mitochondria-associated membranes) comme la cible cellulaire du mitotane

Annales d'endocrinologie, 2016-09, Vol.77 (4), p.257-257

2016

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Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA

Neurology, 2010-02, Vol.74 (8), p.674-677

2010

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P.17.15 Life-threatening lactic acidosis occurring in adults with rare mutations of mtDNA: About three cases

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.830-831

2013

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G.P.186

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.866-866

2014

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Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum

Neurology, 2012-02, Vol.78 (9), p.644-648

2012

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Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis

Mitochondrion, 2009-09, Vol.9 (5), p.331-339

2009

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Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders

European journal of neurology, 2006-09, Vol.13 (9), p.923-929

2006

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Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

Neurology, 2007-01, Vol.68 (4), p.295-297

2007

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Myoblast Xenotransplantation as a Tool to Evaluate the Appropriateness of Nanoparticular versus Cellular Trackers

Cell transplantation, 2008-09, Vol.17 (9), p.1035-1043

2008

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Methylene blue induced O2 consumption is not dependent on mitochondrial oxidative phosphorylation: Implications for salvage pathways during acute mitochondrial poisoning

Respiratory physiology & neurobiology, 2022-10, Vol.304, p.103939-103939, Article 103939

2022

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Adrenocortical carcinoma

Endocrinology and metabolism clinics of North America, 2015-06, Vol.44 (2), p.411-434

Baudin, Eric

2015

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

Neurology, 1994-04, Vol.44 (4), p.721-721

1994

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A novel FTL insertion causing neuroferritinopathy

Journal of medical genetics, 2010-01, Vol.47 (1), p.71-72

2010

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Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins

Molecular biology of the cell, 2002-12, Vol.13 (12), p.4343-4354

2002

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CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

American journal of human genetics, 2008-03, Vol.82 (3), p.623-630

2008

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Organization and dynamics of human mitochondrial DNA

Journal of cell science, 2004-06, Vol.117 (Pt 13), p.2653-2662

2004

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Modulation of mitochondrial morphology by bioenergetics defects in primary human fibroblasts

Neuromuscular disorders : NMD, 2008-04, Vol.18 (4), p.319-330

2008

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Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo

Journal of cell science, 2002-04, Vol.115 (Pt 8), p.1663-1674

2002

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MPTP intoxication in mice: a useful model of Leigh syndrome to study mitochondrial diseases in childhood

Metabolic brain disease, 2009-06, Vol.24 (2), p.321-335

2009

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Life-threatening lactic acidosis occurring in adults with mitochondrial disorders

Revue neurologique, 2019-10, Vol.175 (9), p.564-567

2019

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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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Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

The mitochondrial complex i inhibitor annonacin is toxic to mesencephalic dopaminergic neurons by impairment of energy metabolism

Prediction of long‐term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome

Les approches lipidomiques et métabolomiques identifient les MAM (mitochondria-associated membranes) comme la cible cellulaire du mitotane

Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA

P.17.15 Life-threatening lactic acidosis occurring in adults with rare mutations of mtDNA: About three cases

G.P.186

Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum

Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis

Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

Myoblast Xenotransplantation as a Tool to Evaluate the Appropriateness of Nanoparticular versus Cellular Trackers

Methylene blue induced O2 consumption is not dependent on mitochondrial oxidative phosphorylation: Implications for salvage pathways during acute mitochondrial poisoning

Adrenocortical carcinoma

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

A novel FTL insertion causing neuroferritinopathy

Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Organization and dynamics of human mitochondrial DNA

Modulation of mitochondrial morphology by bioenergetics defects in primary human fibroblasts

Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo

MPTP intoxication in mice: a useful model of Leigh syndrome to study mitochondrial diseases in childhood

Life-threatening lactic acidosis occurring in adults with mitochondrial disorders

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

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