Nicolas Lebrun

Nicolas Lebrun

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Nicolas Lebrun

Nicolas Lebrun

Publications by authors named "Nicolas Lebrun"

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MeCP2 is involved in random mono-allelic expression for a subset of human autosomal genes.

Biochim Biophys Acta Mol Basis Dis 2020 Jun 15;1866(6):165730. Epub 2020 Feb 15.

Assistance Publique - Hôpitaux de Paris, APHP, Centre Universitaire Paris, Hôpital Cochin, Laboratoire de Génétique et Biologie Moléculaires, Paris, France; Institut de Psychiatrie et de Neurosciences de Paris (IPNP), INSERM U1266, Team "Vulnérabilité aux troubles psychiatriques et addictifs", Université de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2020.165730DOI Listing
June 2020

Identification of rare variants in CADM1 in patients with anorexia nervosa.

Psychiatry Res 2020 Jun 8;291:113191. Epub 2020 Jun 8.

Institut de Psychiatrie et de Neurosciences de Paris, Inserm U1266, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.psychres.2020.113191DOI Listing
June 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology.

J Neural Transm (Vienna) 2019 11 6;126(11):1505-1511. Epub 2019 Aug 6.

Institut de Psychiatrie et de Neurosciences de Paris (IPNP), Inserm U1266, 102 rue de la Santé, 75014, Paris, France.

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http://dx.doi.org/10.1007/s00702-019-02056-2DOI Listing
November 2019

De novo deleterious variants that may alter the dopaminergic reward pathway are associated with anorexia nervosa.

Eat Weight Disord 2019 Oct 29. Epub 2019 Oct 29.

Institut de Psychiatrie et de Neurosciences de Paris, Inserm U1266, 102 rue de la Santé, 75014, Paris, France.

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http://dx.doi.org/10.1007/s40519-019-00802-9DOI Listing
October 2019

Anorexia nervosa is associated with Neuronatin variants.

Psychiatr Genet 2019 08;29(4):103-110

Clinique des maladies mentales et de l'encéphale, Hôpital Sainte-Anne, Université Paris-Descartes.

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http://dx.doi.org/10.1097/YPG.0000000000000224DOI Listing
August 2019

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.

Gene 2018 Dec 12;679:305-313. Epub 2018 Sep 12.

Inserm, U1016, Institut Cochin, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France; CNRS, UMR8104, Paris, France; Institut de Psychiatrie et de Neurosciences de Paris, 102 rue de la santé, 75014 Paris, France; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2018.09.016DOI Listing
December 2018

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

Am J Med Genet A 2015 Dec 11;167A(12):3076-81. Epub 2015 Sep 11.

Inserm, Institut Cochin, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37364DOI Listing
December 2015

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.

Hum Mol Genet 2014 Mar 30;23(6):1516-26. Epub 2013 Oct 30.

Institut Cochin, Université Paris Descartes, CNRS (UMR 8104), Paris F75014, France.

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http://dx.doi.org/10.1093/hmg/ddt538DOI Listing
March 2014

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

Am J Med Genet A 2014 Mar 19;164A(3):789-95. Epub 2013 Dec 19.

Centre de Génétique et Centre de Référence Anomalies du développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU, Dijon, France.

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http://dx.doi.org/10.1002/ajmg.a.36348DOI Listing
March 2014

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.

Proc Natl Acad Sci U S A 2012 Sep 21;109(36):14514-9. Epub 2012 Aug 21.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy.

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http://dx.doi.org/10.1073/pnas.1207488109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3437887PMC
September 2012

Association between the IL-1 family gene cluster and spondyloarthritis.

Ann Rheum Dis 2012 Jun 6;71(6):885-90. Epub 2012 Feb 6.

Department of Ophthalmology,Institut Cochin (INSERM U1016, CNRS UMR8104 and Université Paris Descartes, Paris, France.

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http://ard.bmj.com/content/71/6/885.full.pdf
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http://ard.bmj.com/lookup/doi/10.1136/annrheumdis-2011-20043
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http://dx.doi.org/10.1136/annrheumdis-2011-200439DOI Listing
June 2012

[Dysphagia in the elderly: which drugs are crushable?].

Soins Gerontol 2010 Sep-Oct(85):10-3

Centre Hospitalier de Montauban.

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March 2011