Anne-Sophie Lebre

Anne-Sophie Lebre

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Anne-Sophie Lebre

Anne-Sophie Lebre

Publications by authors named "Anne-Sophie Lebre"

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Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

Novel XK mutation in a McLeod patient diagnosed after heart transplant.

Clin Neurol Neurosurg 2018 05 1;168:64-66. Epub 2018 Mar 1.

Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C, 69000 Lyon, France; Université de Lyon, CNRS, Institut des Sciences Cognitives Marc Jeannerod, UMR 5229, 69500 Bron, France; Université de Lyon, Université Claude Bernard Lyon 1, Faculté de médecine Lyon Sud Charles Mérieux, 69000 Lyon, France.

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http://dx.doi.org/10.1016/j.clineuro.2018.02.039DOI Listing
May 2018

Novel gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia.

Neurol Genet 2017 Dec 11;3(6):e205. Epub 2017 Dec 11.

UMR CNRS 6015-INSERM U1083 (C.B., V.D.-D., N.G., D.G., M.B., D.B., P.A.-B., G.L., P.R., V.P.), Mitovasc Institute, Angers University, France; Department of Biochemistry and Genetics (C.B., V.D.-D., N.G., D.G., M.B., D.B., P.A.-B., G.L., P.R., V.P.), University Hospital of Angers, France; Department of Neurology (T.R.), University Hospital of Nantes, France; and CHU Reims (A.-S.L.), Hôpital Maison Blanche, Pole de biologie, Service de génétique, France.

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http://dx.doi.org/10.1212/NXG.0000000000000205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733248PMC
December 2017

Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3.

Free Radic Biol Med 2016 07 25;96:190-8. Epub 2016 Apr 25.

INSERM UMRS 1124, Université Paris Descartes, 75006 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.freeradbiomed.2016.04.027DOI Listing
July 2016

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

Stuve-Wiedemann syndrome: is it underrecognized?

Am J Med Genet A 2014 Sep 2;164A(9):2200-5. Epub 2014 Jul 2.

Department of Medical Genetics, Bezmialem Vakif University of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36626DOI Listing
September 2014

Natural history of Barth syndrome: a national cohort study of 22 patients.

Orphanet J Rare Dis 2013 May 8;8:70. Epub 2013 May 8.

AP-HP, Registre français des neutropénies chroniques sévères, Centre de référence des déficits Immunitaires Héréditaires, Service d'Hémato-oncologie Pédiatrique Hôpital Trousseau, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656783PMC
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

Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7).

Neurobiol Dis 2011 Jan 20;41(1):33-42. Epub 2010 Aug 20.

Jikei University School of Medicine, Division of Neuropathology, 3-25-8 Nishi-Shinbashi, Minato-ku, 105-8461, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nbd.2010.08.016DOI Listing
January 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

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

Clin J Am Soc Nephrol 2010 Jun 8;5(6):1079-90. Epub 2010 Apr 8.

Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France.

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http://dx.doi.org/10.2215/CJN.06810909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2879303PMC
June 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

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.

Eur J Hum Genet 2009 Aug 4;17(8):1019-23. Epub 2009 Mar 4.

AP-HP, Hôpital Necker-Enfants Malades, Département de génétique, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2009.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986554PMC
August 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

Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions.

Acta Neuropathol 2004 Jul 27;108(1):81-7. Epub 2004 Apr 27.

Laboratoire de Neuropathologie Raymond Escourolle, INSERM U360, Association Claude Bernard, Hôpital de La Salpêtrière, 47 boulevard de l'Hôpital, 75651, Paris cedex 13, France.

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http://dx.doi.org/10.1007/s00401-004-0855-xDOI Listing
July 2004

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.

Brain 2003 Jul 6;126(Pt 7):1599-603. Epub 2003 May 6.

INSERM U289, Hôpital de la Salpêtrière, 47 Bd de l'Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1093/brain/awg155DOI Listing
July 2003

Mid-morning tryptophan depletion delays REM sleep onset in healthy subjects.

Neuropsychopharmacology 2002 Nov;27(5):843-51

AP-HP, Centre d'Investigation Clinique, Fédération des Pathologies du Sommeil et UPRES EA 2397, Paris, France.

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http://dx.doi.org/10.1016/S0893-133X(02)00358-5DOI Listing
November 2002