Publications by authors named "Agnes Rotig"

100Publications

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.

Eur J Hum Genet 2020 Nov 9. Epub 2020 Nov 9.

Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.

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http://dx.doi.org/10.1038/s41431-020-00757-xDOI Listing
November 2020

Improving post-natal detection of mitochondrial DNA mutations.

Expert Rev Mol Diagn 2020 Oct 20;20(10):1003-1008. Epub 2020 Sep 20.

Université de Paris et Service de Génétique Moléculaire, Reference Center for Mitochondrial Diseases (CARAMMEL), Groupe Hospitalier Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris , Paris, France.

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http://dx.doi.org/10.1080/14737159.2020.1820326DOI Listing
October 2020

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

Eur J Med Genet 2020 Nov 8;63(11):104033. Epub 2020 Aug 8.

Centre de Référence des Surdités Génétiques, Institut Imagine, Hôpital Necker-Enfants Malades, AP-HP.Centre, Paris, France; Fédération de Génétique, Hôpital Necker-Enfants Malades, AP-HP.Centre, Paris, France; Laboratoire d'Embryologie et de Génétique des Malformations Congénitales, INSERM UMR 1163, Institut Imagine, Université Paris Descartes, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104033DOI Listing
November 2020

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency.

Neuromuscul Disord 2020 07 10;30(7):593-598. Epub 2020 Jun 10.

Pediatric Noninvasive Ventilation and Sleep Unit, Hôpital Necker-Enfants Malades, Paris, France; VIFASOM, Université de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2020.06.002DOI Listing
July 2020

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Am J Hum Genet 2020 01 26;106(1):102-111. Epub 2019 Dec 26.

Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042493PMC
January 2020

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF.

Mol Genet Metab Rep 2019 Dec 23;21:100522. Epub 2019 Oct 23.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819737PMC
December 2019

Expanding the clinical spectrum of mutations.

Mol Genet Metab Rep 2019 Dec 13;21:100501. Epub 2019 Aug 13.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706677PMC
December 2019

Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.

J Biol Chem 2018 08 13;293(35):13604-13615. Epub 2018 Jul 13.

From the Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, UPR9002, F-67084 Strasbourg, France and

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http://dx.doi.org/10.1074/jbc.RA118.003400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120215PMC
August 2018

Pitfalls in molecular diagnosis of Friedreich ataxia.

Eur J Med Genet 2018 Aug 9;61(8):455-458. Epub 2018 Mar 9.

Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, INSERM UMR1163, Laboratoire des Maladies Mitochondriales, Paris, France; Service de Génétique, Groupe hospitalier Necker Enfants Malades, Assistance Publique -Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.03.004DOI Listing
August 2018

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Am J Hum Genet 2018 02;102(2):266-277

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Laboratory of Excellence GR-Ex, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183000
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http://dx.doi.org/10.1016/j.ajhg.2018.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985451PMC
February 2018

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

J Med Genet 2018 Jun 22;55(6):378-383. Epub 2018 Jan 22.

Department of Pediatric Radiology, INSERM UMR 1163 and INSERM U1000, Paris Descartes University, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-105094DOI Listing
June 2018

[Exome and transcriptome sequencing as complementary approaches for disease gene identification].

Authors:
Agnès Rötig

Med Sci (Paris) 2017 Dec 20;33(12):1045-1047. Epub 2017 Dec 20.

UMR1163, université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24, boulevard du Montparnasse, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/20173312009DOI Listing
December 2017

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Am J Hum Genet 2017 Oct 28;101(4):630-637. Epub 2017 Sep 28.

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Centre de Référence des Surdités Génétiques, Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630197PMC
October 2017

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.

J Med Genet 2018 02 28;55(2):131-136. Epub 2017 Jul 28.

Universitè Paris Descartes - Sorbonne Paris Citè, Institut Imagine, INSERM UMR1163, Laboratoire des Maladies Mitochondriales, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104615DOI Listing
February 2018

Compound heterozygosity for severe and hypomorphic mutations cause non-syndromic LHON-like optic neuropathy.

J Med Genet 2017 05 28;54(5):346-356. Epub 2016 Dec 28.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-104212DOI Listing
May 2017

Mouse models for mitochondrial diseases.

Hum Mol Genet 2016 Oct 21;25(R2):R115-R122. Epub 2016 Jun 21.

INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France

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http://dx.doi.org/10.1093/hmg/ddw176DOI Listing
October 2016

Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.

Hum Mol Genet 2016 Feb 21;25(4):715-27. Epub 2015 Dec 21.

Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Univ Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette cedex, France,

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http://dx.doi.org/10.1093/hmg/ddv509DOI Listing
February 2016

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Eur J Hum Genet 2016 08 16;24(8):1112-6. Epub 2015 Dec 16.

Departments of Pediatric, Cardiology and Genetics and INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants-Malades, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2015.264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970679PMC
August 2016

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Hum Mol Genet 2015 Jun 26;24(11):3238-47. Epub 2015 Feb 26.

Department of Pediatrics, University of Pittsburgh School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15224, USA

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http://dx.doi.org/10.1093/hmg/ddv074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424958PMC
June 2015

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.

Eur J Hum Genet 2015 Jun 17;23(6):880-2. Epub 2014 Sep 17.

INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795040PMC
June 2015

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans.

Cell Rep 2014 May;7(4):933-4

Université Paris-Descartes; Sorbonne Paris Cité, Institut IMAGINE and INSERM U781; Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris, Cedex 15, France.

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http://dx.doi.org/10.1016/j.celrep.2014.05.005DOI Listing
May 2014

Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis.

JIMD Rep 2014 9;14:17-21. Epub 2013 Nov 9.

Biochemistry Unit, Hôpital Bicêtre, Assistance Publique - Hôpitaux de Paris, Université Paris Sud 11, 78, rue du Général Leclerc, Le Kremlin-Bicêtre, 94275 cedex, France,

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http://link.springer.com/10.1007/8904_2013_278
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http://dx.doi.org/10.1007/8904_2013_278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213329PMC
October 2014

Respiratory chain deficiencies.

Handb Clin Neurol 2013 ;113:1651-66

Department of Pediatric Metabolism, Reference Center, Hôpital Necker-Enfants Malades, and Université Paris Descartes, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00033-2DOI Listing
March 2014

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.

Biochim Biophys Acta 2013 Aug 18;1832(8):1304-12. Epub 2013 Apr 18.

Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine and INSERM U781, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.bbadis.2013.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787750PMC
August 2013

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

Hum Mol Genet 2013 May 5;22(9):1867-72. Epub 2013 Feb 5.

Institut Imagine and INSERM U781, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Université Paris-Descartes, 149 rue de Sèvres, Paris cedex 15, France.

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http://dx.doi.org/10.1093/hmg/ddt040DOI Listing
May 2013

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

Mol Genet Metab 2012 Dec 22;107(4):700-4. Epub 2012 Oct 22.

Assistance Publique-Hôpitaux de Paris, Services de Génétique, de Cytogénétique et de Maladies Métaboliques, Hôpital Necker-Enfants Malades, 149, rue de Sèvres 75743 Paris cedex 15, France.

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http://dx.doi.org/10.1016/j.ymgme.2012.10.008DOI Listing
December 2012

Toward genotype phenotype correlations in GFM1 mutations.

Mitochondrion 2012 Mar 1;12(2):242-7. Epub 2011 Oct 1.

Department of Genetics, Hôpital Necker-Enfants Malades, Université Paris Descartes and INSERM U781, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.mito.2011.09.007DOI Listing
March 2012

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.

Hum Mutat 2011 Nov 14;32(11):1225-31. Epub 2011 Sep 14.

Department of Genetics, INSERM U781, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1002/humu.21562DOI Listing
November 2011

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.

J Hepatol 2012 Jan 8;56(1):294-7. Epub 2011 Jul 8.

Department of Genetics, Hôpital Necker-Enfants Malades, Université Paris Descartes and INSERM U781, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.jhep.2011.06.014DOI Listing
January 2012

Human diseases with impaired mitochondrial protein synthesis.

Authors:
Agnès Rötig

Biochim Biophys Acta 2011 Sep 25;1807(9):1198-205. Epub 2011 Jun 25.

Université Paris Descartes and INSERM U781, 149 rue de Sèvres, Hôpital Necker-Enfants Malades, 75015 Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S00052728110015
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http://dx.doi.org/10.1016/j.bbabio.2011.06.010DOI Listing
September 2011

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.

Am J Hum Genet 2011 Apr;88(4):494-8

Université Paris-Descartes, Faculté de Médecine, Unité INSERM U781, Service de Génétique Médicale, Hôpital Necker-Enfants Malades (Assistance Publique-Hôpitaux de Paris), 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1016/j.ajhg.2011.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071907PMC
April 2011

Caenorhabditis elegans, a pluricellular model organism to screen new genes involved in mitochondrial genome maintenance.

Biochim Biophys Acta 2010 Sep 24;1802(9):765-73. Epub 2010 May 24.

Université Paris-Sud, CNRS, UMR 8621, Institut de Génétique et Microbiologie, Orsay, F-91405, France.

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http://dx.doi.org/10.1016/j.bbadis.2010.05.007DOI Listing
September 2010

News in ubiquinone biosynthesis.

Authors:
Agnès Rötig

Chem Biol 2010 May;17(5):415-6

INSERM U781, Hôpital Necker-Enfants Malades, Université René Descartes, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.chembiol.2010.05.001DOI Listing
May 2010

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

Mitochondrion 2010 Jun 1;10(4):335-41. Epub 2010 Mar 1.

Université Paris Descartes, Hôpital Necker-Enfants Malades et Inserm U781 et U797, Départements de Génétique, de Radiologie pédiatrique, des Maladies Métaboliques et de Biochimie B, Paris F-75015, France.

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http://dx.doi.org/10.1016/j.mito.2010.02.006DOI Listing
June 2010

[Mitochondrial genome instability and associated diseases].

Med Sci (Paris) 2010 Feb;26(2):171-6

Inserm U781, Hôpital Necker Enfants malades, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/2010262171DOI Listing
February 2010

Genetic bases of mitochondrial respiratory chain disorders.

Authors:
Agnès Rötig

Diabetes Metab 2010 Apr 21;36(2):97-107. Epub 2010 Jan 21.

Inserm U781, hôpital Necker-Enfants Malades, université Paris Descartes, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.diabet.2009.11.002DOI Listing
April 2010

Pearson syndrome in the neonatal period: two case reports and review of the literature.

J Pediatr Hematol Oncol 2009 Dec;31(12):947-51

AP-HP, Hôpital Armand Trousseau, Department of Pediatric Hematology Oncology and Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1097/MPH.0b013e3181bbc4efDOI Listing
December 2009

Acute infantile liver failure due to mutations in the TRMU gene.

Am J Hum Genet 2009 Sep;85(3):401-7

Department of Human Genetics and Metabolic Diseases, Hadassah, the Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2009.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771591PMC
September 2009

[Mitochondrial disorders].

Bull Acad Natl Med 2009 Jan;193(1):19-41; discussion 41-3

Pédiatrie, Hôpital Necker-Enfants malades, INSERM U393, 149 rue de Sèvres, 75743 Paris.

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January 2009

Genetic causes of mitochondrial DNA depletion in humans.

Biochim Biophys Acta 2009 Dec 9;1792(12):1103-8. Epub 2009 Jul 9.

INSERM U781, Hôpital Necker-Enfants Malades, Université René Descartes Paris V, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.bbadis.2009.06.009DOI Listing
December 2009

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.

Mol Genet Metab 2009 Jul 11;97(3):185-9. Epub 2009 Mar 11.

Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2009.03.002DOI Listing
July 2009

The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations.

Biochimie 2008 Oct 27;90(10):1452-60. Epub 2008 May 27.

Institute of Biomembranes and Bioenergetics, Italian Research Council, Bari, Italy.

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http://dx.doi.org/10.1016/j.biochi.2008.04.017DOI Listing
October 2008

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

Am J Hum Genet 2008 Mar;82(3):623-30

INSERM U781 and Department of Genetics, Hôpital Necker-Enfants Malades, Université René Descartes Paris V, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.ajhg.2007.12.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427298PMC
March 2008

Mitochondrial respiratory chain complex assembly and function during human fetal development.

Mol Genet Metab 2008 May 30;94(1):120-6. Epub 2008 Jan 30.

INSERM U781 and Service de Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2007.12.007DOI Listing
May 2008

Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components.

J Clin Endocrinol Metab 2008 Apr 22;93(4):1433-41. Epub 2008 Jan 22.

Université Paris Descartes, Centre National de la Recherche Scientifique Unité Propre de Recherche 9078, Faculté Necker-Enfants Malades, 75015 Paris, France.

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http://dx.doi.org/10.1210/jc.2007-1701DOI Listing
April 2008

[p53R2 : DNA repair or mitochondrial DNA synthesis?].

Med Sci (Paris) 2007 Oct;23(10):803-5

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http://dx.doi.org/10.1051/medsci/20072310803DOI Listing
October 2007

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

Ann Neurol 2007 Dec;62(6):579-87

Institut National de la Sante et de la Recherche Médicale U781 and Service de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ana.21207DOI Listing
December 2007

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.

Mol Genet Metab 2007 Sep-Oct;92(1-2):104-8. Epub 2007 Jun 28.

Service de Génétique and INSERM U781, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2007.05.010DOI Listing
November 2007