Nathalie Drouot

Nathalie Drouot

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Nathalie Drouot

Nathalie Drouot

Publications by authors named "Nathalie Drouot"

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29Publications

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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

Am J Hum Genet 2020 Apr 19;106(4):438-452. Epub 2020 Mar 19.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, Strasbourg 67000, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.013DOI Listing
April 2020

Loss-of-function mutations in NR4A2 cause dopa-responsive dystonia Parkinsonism.

Mov Disord 2020 Jan 10. Epub 2020 Jan 10.

Sorbonne Université, Institut du Cerveau et de la Moelle épinière, Inserm U 1127, CNRS UMR 7225, F-75013, Paris, France.

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http://dx.doi.org/10.1002/mds.27982DOI Listing
January 2020

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

Eur J Hum Genet 2018 04 8;26(4):527-536. Epub 2018 Feb 8.

Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, 1 place de l'hôpital, Strasbourg, 67091, France.

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http://www.nature.com/articles/s41431-017-0009-y
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http://dx.doi.org/10.1038/s41431-017-0009-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891492PMC
April 2018

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Am J Hum Genet 2017 Sep 17;101(3):428-440. Epub 2017 Aug 17.

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173028
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http://dx.doi.org/10.1016/j.ajhg.2017.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590842PMC
September 2017

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

J Neurol 2016 Aug 26;263(8):1552-8. Epub 2016 May 26.

Laboratoire de Génétique de Maladies Rares, Institut Universitaire de Recherche Clinique, EA7402, Université de Montpellier, CHU Montpellier, 641 Avenue du Doyen Gaston Giraud, 34093, Montpellier Cedex 5, France.

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http://dx.doi.org/10.1007/s00415-016-8167-3DOI Listing
August 2016

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

BMC Med Genet 2015 Jun 12;16:36. Epub 2015 Jun 12.

Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, USTHB, Alger, Algeria.

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http://dx.doi.org/10.1186/s12881-015-0180-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630839PMC
June 2015

Cerebral Iron Accumulation Is Not a Major Feature of /SPG35.

Mov Disord Clin Pract 2015 Mar 18;2(1):56-60. Epub 2015 Feb 18.

Institute of Genetics and Cellular and Molecular Biology INSERM U964 CNRS UMR7104 University of Strasbourg Illkirch France.

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http://dx.doi.org/10.1002/mdc3.12118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353525PMC
March 2015

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Hum Mol Genet 2015 Jan 8;24(2):463-70. Epub 2014 Sep 8.

INSERM U827, Montpellier F-34000, France Université Montpellier I, Montpellier F-34000, France Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire (CHU) Montpellier, Montpellier F-34000, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964/CNRS UMR7104/Université de Strasbourg, Illkirch, France

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http://hmg.oxfordjournals.org/content/early/2014/09/08/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu461
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http://dx.doi.org/10.1093/hmg/ddu461DOI Listing
January 2015

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

JAMA Neurol 2014 Oct;71(10):1305-10

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Strasbourg, Strasbourg, France9Laboratoire de Génétique des Maladies Rar.

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http://dx.doi.org/10.1001/jamaneurol.2014.193DOI Listing
October 2014

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.

Neurogenetics 2012 Feb 6;13(1):49-59. Epub 2012 Jan 6.

Institute of Anatomy and Cell Biology, Center for Neurosciences, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1007/s10048-011-0307-4DOI Listing
February 2012

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

Brain 2010 Aug;133(Pt 8):2439-47

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université de Strasbourg, et Collège de France, 67404 Illkirch, France.

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http://dx.doi.org/10.1093/brain/awq181DOI Listing
August 2010

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.

Am J Med Genet A 2010 May;152A(5):1244-9

Department of Genetics, University Hospital of Rouen, Rouen, France.

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http://dx.doi.org/10.1002/ajmg.a.33369DOI Listing
May 2010