Jean-Paul Bonnefont

Jean-Paul Bonnefont

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Jean-Paul Bonnefont

Publications by authors named "Jean-Paul Bonnefont"

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Clinical utility gene card: for incontinentia pigmenti.

Eur J Hum Genet 2019 Dec 9;27(12):1894-1900. Epub 2019 Jul 9.

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", IGB-CNR, Naples, 80131, Italy.

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http://dx.doi.org/10.1038/s41431-019-0463-9DOI Listing
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

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

Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus.

Prenat Diagn 2019 04 1;39(5):388-393. Epub 2019 Apr 1.

Service de Génétique, CHRU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.

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http://dx.doi.org/10.1002/pd.5439DOI Listing
April 2019

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

Autism spectrum disorders in propionic acidemia patients.

J Inherit Metab Dis 2018 07 30;41(4):623-629. Epub 2017 Aug 30.

Service de Pédopsychiatrie, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10545-017-0070-2DOI Listing
July 2018

Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.

Hum Mutat 2018 07 19;39(7):970-982. Epub 2018 May 19.

Laboratory CTGDM, Inserm UMR1163, Paris, France; Institut Imagine, Université Paris-Descartes-Sorbonne Paris-Cité, Paris, France.

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http://dx.doi.org/10.1002/humu.23531DOI Listing
July 2018

[Nuclear transfer to prevent transmission of mtDNA disorders: where are we?]

Med Sci (Paris) 2017 Jun-Jul;33(6-7):642-645. Epub 2017 Jul 19.

AP-HP, Biologie de la Reproduction, Université Paris-Sud, Université Paris-Saclay, Hôpital Antoine-Béclère Clamart, F-92140, France.

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http://dx.doi.org/10.1051/medsci/20173306022DOI Listing
June 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

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Could Failure in Preimplantation Genetic Diagnosis Justify Editing the Human Embryo Genome?

Cell Stem Cell 2018 04 8;22(4):481-482. Epub 2018 Feb 8.

AP-HP, Biologie de la reproduction, Université Paris-Sud, Université Paris-Saclay, Hôpital Antoine-Béclère, Clamart, F-92140 France.

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http://dx.doi.org/10.1016/j.stem.2018.01.004DOI Listing
April 2018

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

Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum.

J Hepatol 2017 Sep 20. Epub 2017 Sep 20.

Brain Liver Pitié-Salpêtrière (BLIPS) study group, Groupement Hospitalier Pitié-Salpêtrière-Charles Foix, Assistance Publique - Hôpitaux de Paris, Paris, France; Université Pierre et Marie Curie Paris 6, Sorbonne Universités, INSERM UMR_S 938, CDR Saint-Antoine Maladies métaboliques, biliaires et fibro-inflammatoires du foie, & Institut de Cardiométabolisme et Nutrition, ICAN, Paris, France; UF de Soins Intensifs d'Hépato-gastroentérologie, Groupement Hospitalier Pitié-Salpêtrière-Charles Foix, Assistance Publique - Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2017.09.009DOI Listing
September 2017

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

Hum Pathol 2017 Apr 11;62:160-169. Epub 2017 Jan 11.

Pathology Department Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris, Université Sorbonne Paris Cité, 75015, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.humpath.2016.12.021DOI Listing
April 2017

Pattern dystrophy in a female carrier of RP2 mutation.

Ophthalmic Genet 2016 12 17;37(4):453-455. Epub 2016 Feb 17.

a Genetics of Sensory Diseases, CHU , Montpellier , France.

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http://dx.doi.org/10.3109/13816810.2015.1081253DOI Listing
December 2016

RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.

Am J Med Genet A 2015 Aug 6;167A(8):1908-12. Epub 2015 Apr 6.

Service de Génétique, INSERM U781, Hôpital Necker-Enfants Malades, Institut Imagine, University Sorbonne-Paris-Cité, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37094DOI Listing
August 2015

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

Int J Biochem Cell Biol 2015 Aug 27;65:91-103. Epub 2015 May 27.

Angers University, Angers, France; Biochemistry and Genetics Laboratory, CHU Angers, F-49000, France; UMR CNRS 6214-INSERM U1083, Angers F-49000, France. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2015.05.017DOI Listing
August 2015

Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned?

J Inherit Metab Dis 2015 Mar 14;38(2):371-2. Epub 2014 Oct 14.

INSERM UMR-S 1124, Université Paris Descartes, UFR Biomédicale des Saints-Pères 45, rue des Saints-Pères, 75270, Paris cedex 06, France,

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http://link.springer.com/10.1007/s10545-014-9775-7
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http://dx.doi.org/10.1007/s10545-014-9775-7DOI Listing
March 2015

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.

Eur J Hum Genet 2014 May 11;22(5):711-2. Epub 2013 Sep 11.

1] Unité Université Paris Descartes-Sorbonne Paris Cité, Institut imagine, INSERM-U781, Paris, France [2] Service de génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2013.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992558PMC
May 2014

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

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

Orphanet J Rare Dis 2013 Sep 23;8:148. Epub 2013 Sep 23.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, APHP, Université Paris Descartes, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016503PMC
September 2013

Clinical Utility Gene Card for: incontinentia pigmenti.

Eur J Hum Genet 2013 Jul 10;21(7). Epub 2012 Oct 10.

Institute of Genetics and Biophysics Adriano Buzzati-Traverso, IGB-CNR, Naples, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722938PMC
July 2013

Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.

J Child Neurol 2013 Jun 12;28(6):787-90. Epub 2012 Jul 12.

Service de Neurologie Pédiatrique et Maladies métaboliques, hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France.

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http://journals.sagepub.com/doi/10.1177/0883073812450209
Publisher Site
http://dx.doi.org/10.1177/0883073812450209DOI Listing
June 2013

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

Am J Med Genet A 2013 Jun 1;161A(6):1370-5. Epub 2013 May 1.

Université Paris Descartes, INSERM U 781 & Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35307DOI Listing
June 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

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Eur J Hum Genet 2013 Feb 18;21(2):195-9. Epub 2012 Jul 18.

INSERM U781, Département de Génétique et de Radiologie Pédiatrique, Fondation IMAGINE, Université Paris Descartes, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2012.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548256PMC
February 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

[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions].

Bull Acad Natl Med 2011 Apr-May;195(4-5):1005-13; discussion 1013-4

Gynécologie-Obstétrique et Médecine de la Reproduction, Hôpital Antoine Béclère, Clamart. Univ. Paris-Sud, Clamart, INSERM, U782, Clamart, F-92140.

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April 2012

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

Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations.

J Am Acad Dermatol 2011 Mar 20;64(3):508-15. Epub 2011 Jan 20.

Centre National de Référence des Maladies Génétiques à Expression Cutanée and the Department of Dermatology, Unité de Formation et de Recherche Necker-Enfants Malades Hospital, Université Paris V, Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S019096221000131
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http://dx.doi.org/10.1016/j.jaad.2010.01.045DOI Listing
March 2011

Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

Eur J Endocrinol 2011 Feb 23;164(2):309-14. Epub 2010 Nov 23.

INSERM U845 Pediatric Endocrinology and Gynecology, Centre des Maladies Endocriniennes Rares de la Croissance, AP-HP, Necker-Enfants Malades Hospital, Université Paris Descartes, 75743 Paris, France.

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http://dx.doi.org/10.1530/EJE-10-0679DOI Listing
February 2011

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

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.

Eur J Hum Genet 2010 Apr 11;18(4):505-8. Epub 2009 Nov 11.

Unité INSERM U781 Institut de Recherche Necker-Enfants Malades, service de génétique médicale, Hôpital Necker-Enfants Malades (Assistance Publique-Hôpitaux de Paris), Université Paris-Descartes, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1038/ejhg.2009.198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987255PMC
April 2010

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Eur J Hum Genet 2010 Mar 21;18(3):285-90. Epub 2009 Oct 21.

Département de Génétique, Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2009.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987214PMC
March 2010

[Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases].

Med Wieku Rozwoj 2008 Jul-Sep;12(3):748-53

Zakład Genetyki Medycznej Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland.

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April 2009

Glutathione S-transferases related to P. aeruginosa lung infection in cystic fibrosis children: preliminary study.

Clin Biochem 2009 Jan 17;42(1-2):57-63. Epub 2008 Oct 17.

Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades Hospital, Laboratory of Biochemistry A, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.clinbiochem.2008.09.116DOI Listing
January 2009

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia.

Prenat Diagn 2008 Jan;28(1):69-71

Service de Cytogénétique et d'Embryologie, Hôpital Necker-Enfants Malades, AP-HP, Paris, Université Paris Descartes, Paris V, France.

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http://dx.doi.org/10.1002/pd.1911DOI Listing
January 2008

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

Refined characterization of the expression and stability of the SMN gene products.

Am J Pathol 2007 Oct 23;171(4):1269-80. Epub 2007 Aug 23.

Molecular Neurogenetics Laboratory, INSERM U798, Evry and Paris 11 Universities, Evry, France.

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http://dx.doi.org/10.2353/ajpath.2007.070399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1988876PMC
October 2007

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

Hum Mutat 2007 Feb;28(2):205-6

INSERM U781 and Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/humu.9478DOI Listing
February 2007

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Hum Mutat 2007 Jan;28(1):81-91

Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement, Institut Nationale de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/humu.20417DOI Listing
January 2007

Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis.

Prenat Diagn 2006 Oct;26(10):906-16

INSERM, Unité 807, Paris, France, Université Réné Descartes, Paris, France.

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http://dx.doi.org/10.1002/pd.1524DOI Listing
October 2006

Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN.

Physiol Genomics 2006 Jan 23;24(2):97-104. Epub 2005 Aug 23.

Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM), E-223, University of Evry, Genopole, Evry, France.

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http://dx.doi.org/10.1152/physiolgenomics.00134.2005DOI Listing
January 2006

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.

Mol Aspects Med 2004 Oct-Dec;25(5-6):495-520

INSERM Unit U393, Assistance Publique - Hôpitaux de Paris, CHU Necker-Enfants Malades, Tour Lavoisier 2 étage, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1016/j.mam.2004.06.004DOI Listing
October 2005

Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR.

Mol Genet Metab 2005 Mar 9;84(3):289-92. Epub 2004 Dec 9.

Department of Genetics, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2004.10.008DOI Listing
March 2005

Molecular diagnostics of mitochondrial disorders.

Biochim Biophys Acta 2004 Dec;1659(2-3):129-35

INSERM U393, Service de Génétique, Hôpital Necker-Enfants Malades, Unite de Recherches sur les, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.bbabio.2004.07.007DOI Listing
December 2004

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

J Biol Chem 2003 Dec 29;278(50):50428-34. Epub 2003 Sep 29.

Département d'Endocrinologie, Institut Cochin, INSERM U567, CNRS Unité Mixte de Recherche 8104, Université René Descartes, 24 Rue du Faubourg Saint-Jacques, 75014 Paris, France.

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http://tonglab.biology.columbia.edu/Research/crat_cpt.pdf
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http://www.jbc.org/cgi/doi/10.1074/jbc.M310130200
Publisher Site
http://dx.doi.org/10.1074/jbc.M310130200DOI Listing
December 2003

Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts.

Mol Genet Metab 2003 Feb;78(2):112-8

INSERM Unité 393, Hôpital Necker--Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/s1096-7192(03)00017-9DOI Listing
February 2003

Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.

Ann Neurol 2002 Sep;52(3):374-7

Service de Neurologie, Hôpital Sainte-Anne, Paris, France.

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http://dx.doi.org/10.1002/ana.10299DOI Listing
September 2002