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175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2011-02, Vol.21 (2), p.142-147

2011

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How do mammalian mitochondria synthesize proteins?

Biochemical Society transactions, 2007-11, Vol.35 (Pt 5), p.1290-1291

2007

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Studying the molecular basis of the reversibility in infantile reversible cytochrome c oxidase deficiency

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S22-S22

2012

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DNA repair in organelles: Pathways, organization, regulation, relevance in disease and aging

Biochimica et biophysica acta, 2011, Vol.1813 (1), p.186-200

2011

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P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family

Neuromuscular disorders : NMD, 2010-03, Vol.20, p.S25-S25

2010

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CRISPR/Cas9-mediated knockout of RTN4IP1 leads to a severe Complex I assembly defect

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S32-S33

2018

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M10 - CRISPR/Cas9-mediated knockout of RTN4IP1 leads to a severe Complex I assembly defect

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S32-S33

2018

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Progress and prospects: gene therapy for mitochondrial DNA disease

Gene therapy, 2008-07, Vol.15 (14), p.1017-1023

2008

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Variants in PTCD1 cause combined respiratory chain deficiency and mitoribosomal instability associated with infantile cardiomyopathy

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S32

2018

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M09 - Variants in PTCD1 cause combined respiratory chain deficiency and mitoribosomal instability associated with infantile cardiomyopathy

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S32-S32

2018

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DNA Delivery to Mitochondria: Sequence Specificity and Energy Enhancement

Pharmaceutical research, 2011-11, Vol.28 (11), p.2871-2882

2011

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A Microtiter Plate Assay for Cytochrome c Oxidase in Permeabilized Whole Cells

Analytical biochemistry, 1993-10, Vol.214 (1), p.45-49

1993

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Natural competence of mammalian mitochondria allows the molecular investigation of mitochondrial gene expression

Human molecular genetics, 2006-01, Vol.15 (1), p.143-154

2006

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M14 - Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S34-S34

2018

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Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S34

2018

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DNA import competence and mitochondrial genetics

Biopolymers, 2014, Vol.30, p.71-73

2014

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Mitochondrial transfection for studying organellar DNA repair, genome maintenance and aging

Mechanisms of ageing and development, 2011-08, Vol.132 (8), p.412-423

2011

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Analysis of European mtDNAs for Recombination

American journal of human genetics, 2001-01, Vol.68 (1), p.145-153

2001

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The proton pore in the Escherichia coli F0F1-ATPase: a requirement for arginine at position 210 of the a-subunit

Biochimica et biophysica acta, 1987-12, Vol.894 (3), p.399-406

1987

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Why do mammalian mitochondria possess a mismatch repair activity?

FEBS letters, 2003-11, Vol.554 (1-2), p.6-9

2003

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P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNA Glu in a German family

Neuromuscular disorders : NMD, 2010, Vol.20, p.S25-S25

2010

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Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism

The Journal of biological chemistry, 1993-09, Vol.268 (26), p.19559-19564

1993

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Intracellular Mitochondrial Triplasmy in a Patient with Two Heteroplasmic Base Changes

American journal of human genetics, 1997-06, Vol.60 (6), p.1430-1438

1997

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Chronic inhibition of mitochondrial translation induces an increase in mtDNA transcription without concomitant amplification

Biochemical Society transactions, 2000-02, Vol.28 (1), p.A10-A10

2000

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Adresser du matériel allogène dans le compartiment mitochondrial: Un défi pour comprendre la physiologie mitochondriale et une perspective pour la thérapie

M.S. Médecine sciences, 2007, Vol.23 (5), p.519-525

2007

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175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

How do mammalian mitochondria synthesize proteins?

Studying the molecular basis of the reversibility in infantile reversible cytochrome c oxidase deficiency

DNA repair in organelles: Pathways, organization, regulation, relevance in disease and aging

P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family

CRISPR/Cas9-mediated knockout of RTN4IP1 leads to a severe Complex I assembly defect

M10 - CRISPR/Cas9-mediated knockout of RTN4IP1 leads to a severe Complex I assembly defect

Progress and prospects: gene therapy for mitochondrial DNA disease

Variants in PTCD1 cause combined respiratory chain deficiency and mitoribosomal instability associated with infantile cardiomyopathy

M09 - Variants in PTCD1 cause combined respiratory chain deficiency and mitoribosomal instability associated with infantile cardiomyopathy

DNA Delivery to Mitochondria: Sequence Specificity and Energy Enhancement

A Microtiter Plate Assay for Cytochrome c Oxidase in Permeabilized Whole Cells

Natural competence of mammalian mitochondria allows the molecular investigation of mitochondrial gene expression

M14 - Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction

Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction

DNA import competence and mitochondrial genetics

Mitochondrial transfection for studying organellar DNA repair, genome maintenance and aging

Analysis of European mtDNAs for Recombination

The proton pore in the Escherichia coli F0F1-ATPase: a requirement for arginine at position 210 of the a-subunit

Why do mammalian mitochondria possess a mismatch repair activity?

P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNA Glu in a German family

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism

Intracellular Mitochondrial Triplasmy in a Patient with Two Heteroplasmic Base Changes

Chronic inhibition of mitochondrial translation induces an increase in mtDNA transcription without concomitant amplification

Adresser du matériel allogène dans le compartiment mitochondrial: Un défi pour comprendre la physiologie mitochondriale et une perspective pour la thérapie

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