Nicolas Lebrun

Nicolas Lebrun

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Nicolas Lebrun

Nicolas Lebrun

Publications by authors named "Nicolas Lebrun"

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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

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

J Neural Transm (Vienna) 2019 Aug 6. 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
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