Publications by authors named "Juliette Nectoux"

44Publications

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

Eur J Med Genet 2020 Sep 16;63(12):104063. Epub 2020 Sep 16.

ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories and Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA; Clinical Genomics Program, GeneDx, MD, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2020.104063DOI Listing
September 2020

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

Biochim Biophys Acta Mol Basis Dis 2020 06 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:

View Article

Download full-text PDF

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

Development of molecular analysis by digital PCR for clinical practice: positioning, current applications and perspectives.

Ann Biol Clin (Paris) 2019 12;77(6):619-637

ID Solutions, Grabels, France, Service d'anatomie pathologique et neuropathologie, Assistance Publique Hôpitaux de Marseille, AP-HM, Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/abc.2019.1502DOI Listing
December 2019

Current, Emerging, and Future Applications of Digital PCR in Non-Invasive Prenatal Diagnosis.

Authors:
Juliette Nectoux

Mol Diagn Ther 2018 04;22(2):139-148

Juliette Nectoux, Service de Génétique et Biologie Moléculaires, HUPC Hôpital Cochin, 27 rue du Faubourg Saint Jacques, 75014, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s40291-017-0312-xDOI Listing
April 2018

DMD and West syndrome.

Neuromuscul Disord 2017 Oct 19;27(10):911-913. Epub 2017 Jul 19.

I-Motion, Platform for Pediatric Clinical Trials, Arnold Trousseau Hospital, Paris, France; Neuromuscular Center, CHU of Liège, Liège, Belgium. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09608966173009
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2017.07.008DOI Listing
October 2017

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.

Muscle Nerve 2017 Dec 10;56(6):1096-1100. Epub 2017 Apr 10.

APHP, Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mus.25608
Publisher Site
http://dx.doi.org/10.1002/mus.25608DOI Listing
December 2017

[Interest of Droplet digital PCR in non-invasive prenatal testing].

Ann Biol Clin (Paris) 2015 Nov;73 Suppl 1:22-3

Service de biochimie et génétique moléculaire, HUPC Hôpital Cochin, Paris, France, Inserm U1016, Institut Cochin, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/abc.2015.1084DOI Listing
November 2015

Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.

Hum Mol Genet 2016 Jan 24;25(1):146-57. Epub 2015 Nov 24.

Inserm, U1016, Institut Cochin, Paris, France, Cnrs, UMR8104, Paris, France, Université Paris Descartes, Sorbonne Paris Cité, Paris, France, Laboratoire de Biologie et Génétique Moléculaires, HUPC, Hôpital Cochin, Paris, France,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv464DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4690499PMC
January 2016

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

Neurology 2015 Dec 18;85(24):2126-35. Epub 2015 Nov 18.

From INSERM (R.D.C., C.R., K.C., I.R.), U951; Généthon (R.D.C., C.R., K.C., I.R.), R&D Department, INTEGRARE Research Unit, Evry; Neuromuscular Morphology Unit, Myology Institute (N.B.R., M.B.), and INSERM UMRS_974, CNRS FRE 3617, Center of Research in Myology (R.B.Y., F.L., N.B.R., E.M., M.B., I.N., G.B.), Sorbonne Universités, UPMC Univ Paris 06, and AP-HP, University Hospital, Reference Center for Neuromuscular Diseases, Myology Institute (R.B.Y., N.B.R., E.M., B.E.), Groupe Hospitalier La Pitié-Salpêtrière, Paris; Génopole Campus 2 (S.B., A.C.), PartnerChip, Evry; the Department of Medical Genetics (F.L., A.V., B.U.), Folkhälsan Institute of Genetics, University of Helsinki, Finland; AP-HP (J.N.), Groupe Hospitalier Cochin-Broca-Hôtel Dieu, Laboratoire de Biochimie et Génétique Moléculaire, Paris; CEA-IG-Centre National de Genotypage (L.B.A., C.C., R.O.), Evry; Neuromuscular Research Center (B.U.), Tampere University Hospital and University of Tampere, Finland; and the Department of Neurology (B.U.), Vaasa Central Hospital, Finland. R.D.C. is currently affiliated with Disease Genomics Group, Institut de Medicina Predictiva i Personalitzada del Càncer, Campus de Can Ruti, Camí de les Escoles, Badalona (Barcelona), Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000002200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691685PMC
December 2015

Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome.

Neuromolecular Med 2015 Dec 25;17(4):353-63. Epub 2015 Jul 25.

Inserm, U1016, Faculté de Médecine, Laboratoire de Génétique et de Physiopathologie des Maladies Mentales, Institut Cochin, 24 Rue du Faubourg Saint Jacques, 75014, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12017-015-8363-9DOI Listing
December 2015

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model.

J Mol Neurosci 2015 Aug 30;56(4):758-767. Epub 2015 Jan 30.

Institut Cochin, INSERM U1016, Génétique, Physiopathologie et Approches Pharmacologiques des Maladies Neurodéveloppementales, Université Paris Descartes, Paris, France.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s12031-014-0487-0
Publisher Site
http://dx.doi.org/10.1007/s12031-014-0487-0DOI Listing
August 2015

Mutations in the C-terminus of CDKL5: proceed with caution.

Eur J Hum Genet 2014 Feb 12;22(2):270-2. Epub 2013 Jun 12.

1] Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, Paris, France [2] Inserm, U1016, Paris, France [3] Institut Cochin, Université Paris Descartes, Sorbonne Paris Cité, CNRS (UMR 8104), Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895649PMC
February 2014

MeCP2 deficiency is associated with impaired microtubule stability.

FEBS Lett 2013 Jan 10;587(2):245-53. Epub 2012 Dec 10.

Université Paris Descartes, CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.febslet.2012.11.033DOI Listing
January 2013

Altered microtubule dynamics in Mecp2-deficient astrocytes.

J Neurosci Res 2012 May 18;90(5):990-8. Epub 2012 Jan 18.

Université Paris Descartes, CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jnr.23001DOI Listing
May 2012

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Neurogenetics 2011 Feb 24;12(1):1-8. Epub 2010 Aug 24.

Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-010-0255-4DOI Listing
February 2011

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.

Am J Med Genet A 2010 Aug;152A(8):2110-1

Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33037DOI Listing
August 2010

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

Am J Med Genet B Neuropsychiatr Genet 2010 Jan;153B(1):202-7

Service de Neurologie Pédiatrique, Département de Pédiatrie, Hôpital Necker Enfants Malades, AP-HP, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.30974DOI Listing
January 2010

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.

Neurogenetics 2009 Apr 26;10(2):127-33. Epub 2008 Nov 26.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-008-0161-1DOI Listing
April 2009

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.

Pediatr Neurol 2007 Oct;37(4):270-4

Assistance Publique-Hopitaux de Paris, Laboratoire de Biochimie et Génétique Moléculaires, Hôpital Cochin, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2007.06.002DOI Listing
October 2007

Update on fluoroquinolone resistance in Helicobacter pylori: new mutations leading to resistance and first description of a gyrA polymorphism associated with hypersusceptibility.

Int J Antimicrob Agents 2007 Apr 15;29(4):389-96. Epub 2007 Feb 15.

Laboratoire de Bactériologie-Virologie-Hygiène, Centre Hospitalier, Universitaire Henri Mondor, Assistance Publique-Hôpitaux de Paris, Université Paris XII, Créteil, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijantimicag.2006.11.007DOI Listing
April 2007

A quantitative gene expression study suggests a role for angiopoietins in focal nodular hyperplasia.

Gastroenterology 2003 Mar;124(3):651-9

Service d'Anatomie Pathologique and Service de Chirurgie, Hôpital Beaujon, Clichy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/gast.2003.50104DOI Listing
March 2003