Claire-Marie Dhaenens

Claire-Marie Dhaenens

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Claire-Marie Dhaenens

Claire-Marie Dhaenens

Publications by authors named "Claire-Marie Dhaenens"

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42Publications

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Myotonic Dystrophy: an RNA Toxic Gain of Function Tauopathy?

Adv Exp Med Biol 2019 ;1184:207-216

University of Lille, INSERM, CHU-Lille, UMR-S 1172 - Alzheimer & Tauopathies, LabEx DISTALZ, Lille, France.

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http://dx.doi.org/10.1007/978-981-32-9358-8_17DOI Listing
April 2020

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Genet Med 2020 Apr 20. Epub 2020 Apr 20.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41436-020-0787-4DOI Listing
April 2020

Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease.

Invest Ophthalmol Vis Sci 2019 12;60(15):4951-4957

Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientfique, Institut de la Vision, Paris, France.

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http://dx.doi.org/10.1167/iovs.19-27100DOI Listing
December 2019

Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) mutation.

Ophthalmic Genet 2019 08 22;40(4):365-368. Epub 2019 Aug 22.

Biochemistry and Molecular Biology Department - UF Génopathies, Univ Lille , Lille , France.

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http://dx.doi.org/10.1080/13816810.2019.1655771DOI Listing
August 2019

Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis.

Ophthalmology 2018 10 5;125(10):1587-1596. Epub 2018 May 5.

Centre de Maladies Rares "Dystrophies Rétiniennes d'Origine Génétique," DHU Sight Restore INSERM-DHOS CIC 1423, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2018.03.057DOI Listing
October 2018

Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer's disease and progressive supranuclear palsy brains.

Sci Rep 2017 10 3;7(1):12589. Epub 2017 Oct 3.

Univ. Lille, Inserm, CHU Lille, UMR-S 1172 - JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, F-59000, Lille, France.

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http://dx.doi.org/10.1038/s41598-017-12955-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5626709PMC
October 2017

The MAPT gene is differentially methylated in the progressive supranuclear palsy brain.

Mov Disord 2016 12 6;31(12):1883-1890. Epub 2016 Oct 6.

Univ. Lille, Inserm, CHU Lille, UMR-S 1172 - JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, Lille, France.

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http://dx.doi.org/10.1002/mds.26820DOI Listing
December 2016

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

A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY.

Retina 2016 Sep;36(9):1733-40

*Eye Clinic, University of Cagliari, Cagliari, Italy; †CHRU Lille, Biochemistry and Molecular Biology Department, UF Génopathies, Lille, France; Lille University, Faculté de Médecine, Lille, France; ‡Department of Ophthalmology, IRCCS Ospedale San Raffaele, University Vita-Salute San Raffaele, Milan, Italy; §Department of Ophthalmology, Centre Hospitalier Intercommunal de Creteil, University Paris Est Creteil, Creteil, France; and ¶CRB, Centre de Ressources Biologique, Centre Hospitalier Intercommunal de Creteil, University Paris Est Creteil, Creteil, France.

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http://dx.doi.org/10.1097/IAE.0000000000000966DOI Listing
September 2016

Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies.

Am J Surg Pathol 2015 Aug;39(8):1035-44

Departments of *Pathology †Internal Medicine ‡Biochemistry and Molecular Biology, UF Génopathies §Nephrology ∥Neurology ¶Cardiology #Hematology, CHRU de Lille, Regional Competence Center for Systemic Amyloidosis, and University Lille Nord de France, F-59000, Lille **Laboratoire de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Assistance Publique - Hôpitaux de Paris, Hôpital Bicêtre, CHU Paris Sud, Université Paris Sud, Le Kremlin Bicêtre ††Laboratoire de Biochimie et Génétique Moléculaire, Faculté de Médecine Paris, Université Paris Descartes, Sorbonne Paris Cité, Assistance Publique - Hôpitaux de Paris, Groupe Hospitalier Cochin-Hôtel Dieu; INSERM, Centre de Recherche des Cordeliers, URMS 872, équipe 17 ‡‡Pathology Department, Hôpital Tenon, Assistance Publique - Hôpitaux de Paris, Sorbonne Universités, UPMC Paris 6, Paris, France, F-75020.

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http://dx.doi.org/10.1097/PAS.0000000000000430DOI Listing
August 2015

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

Ophthalmology 2014 Dec 29;121(12):2406-14. Epub 2014 Jul 29.

Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, Montpellier, France; Montpellier University, Montpellier, France; Institute for Neurosciences, INSERM, Montpellier, France.

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http://dx.doi.org/10.1016/j.ophtha.2014.06.028DOI Listing
December 2014

Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.

Thyroid 2014 Apr 20;24(4):639-48. Epub 2014 Jan 20.

1 Department of Endocrinology, Regional University Hospital Center (CHRU) of Lille, Lille, France .

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http://dx.doi.org/10.1089/thy.2013.0164DOI Listing
April 2014

Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy.

Front Mol Neurosci 2014 Jan 9;6:57. Epub 2014 Jan 9.

Alzheimer and Tauopathies, Faculty of Medicine, Jean-Pierre Aubert Research Centre, Institute of Predictive Medicine and Therapeutic Research, Inserm, UMR 837 Lille, France ; University of Lille Nord de France, UDSL Lille, France.

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http://journal.frontiersin.org/article/10.3389/fnmol.2013.00
Publisher Site
http://dx.doi.org/10.3389/fnmol.2013.00057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885824PMC
January 2014

MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.

J Neurol 2013 Apr 16;260(4):998-1003. Epub 2012 Nov 16.

INSERM UMR837, Alzheimer and Tauopathies, University Lille-Nord de France, USDL, IMPRT, Jean-Pierre Aubert Research Center, Batiment Biserte, 1, Place de Verdun, 59045 Lille, France.

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http://dx.doi.org/10.1007/s00415-012-6740-yDOI Listing
April 2013

Transcriptional regulation of the human ST6GAL2 gene in cerebral cortex and neuronal cells.

Glycoconj J 2010 Jan 19;27(1):99-114. Epub 2009 Sep 19.

Structural and Functional Glycobiology Unit, UMR CNRS 8576, University of Sciences and Technologies of Lille, 59655, Villeneuve d'Ascq, France.

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http://link.springer.com/10.1007/s10719-009-9260-y
Publisher Site
http://dx.doi.org/10.1007/s10719-009-9260-yDOI Listing
January 2010

Altered splicing of Tau in DM1 is different from the foetal splicing process.

FEBS Lett 2009 Feb 21;583(4):675-9. Epub 2009 Jan 21.

Inserm U837 - Jean-Pierre Aubert Research Centre, Université de Lille, Institut de Médecine Prédictive et Recherche Thérapeutique, Place de Verdun, F-59045 Lille Cedex, France.

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http://dx.doi.org/10.1016/j.febslet.2008.12.065DOI Listing
February 2009

Clinical and genetic evaluation in a French population presenting with primary focal dystonia.

Mov Disord 2005 Jul;20(7):822-5

Department of Biochemistry and Molecular Biology, Institut National de la Santé et de la Recherche Médicale (IFR 114), Centre Hospitalier Universitaire de Lille, France.

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http://dx.doi.org/10.1002/mds.20398DOI Listing
July 2005

Association study of three polymorphisms of kinesin light-chain 1 gene with Alzheimer's disease.

Neurosci Lett 2004 Sep;368(3):290-2

Groupe Vieillissement Cérébral et Maladies Neurodégénératives, INSERM U422, Laboratoire G. Biserte et Faculté de Médecine, Université de Lille 2, Place de Verdun 59045, Lille Cedex, France.

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http://dx.doi.org/10.1016/j.neulet.2004.07.040DOI Listing
September 2004

Microtubule-associated protein tau gene: a risk factor in human neurodegenerative diseases.

Neurobiol Dis 2004 Apr;15(3):449-60

INSERM U422 and Département de Biochimie et de Biologie moléculaire, Faculté de Médecine, Université de Lille 2, Place de Verdun, 59045, Lille Cedex, France.

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http://dx.doi.org/10.1016/j.nbd.2003.12.009DOI Listing
April 2004