Publications by authors named "Karine Nguyen"

40Publications

Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy.

Eur J Paediatr Neurol 2020 Sep 7;28:198-204. Epub 2020 Jul 7.

Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland; University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.ejpn.2020.06.004DOI Listing
September 2020

Facioscapulohumeral Muscular Dystrophy-a Tale of Heterogeneity and the Power of Clinical Assessments.

JAMA Netw Open 2020 05 1;3(5):e205004. Epub 2020 May 1.

Aix Marseille University, Marseille Medical Genetics MMG, Marseille, France.

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http://dx.doi.org/10.1001/jamanetworkopen.2020.5004DOI Listing
May 2020

Left-ventricular non-compaction-comparison between different techniques of quantification of trabeculations: Should the diagnostic thresholds be modified?

Arch Cardiovasc Dis 2020 May 2;113(5):321-331. Epub 2020 Apr 2.

Cardiology Department, La Timone Hospital, AP-HM, 13005 Marseille France; Aix Marseille Université, IRD, APHM, MEPHI, IHU - Méditerranée Infection, 13005 Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.acvd.2020.01.004DOI Listing
May 2020

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.

Neurol Genet 2019 Dec 14;5(6):e372. Epub 2019 Nov 14.

Aix Marseille University, INSERM, MMG (S.R., C.D., N.B., C.L., M.-C.G., J.D.R., A.L., F.P., E.S.C., S.A., M.B., R.B., K.N., F.M.); Département de Génétique Médicale (A.L., C.V., C.C., R.B., K.N.), AP-HM, Hôpital de la Timone enfants, Marseille; and Centre de référence pour les maladies neuromusculaires et la SLA (E.S.C., S.A.), AP-HM, Hôpital de la Timone, Marseille, France.

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http://dx.doi.org/10.1212/NXG.0000000000000372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878839PMC
December 2019

[Marseille welcomes the FSHD Society International Research Conference].

Med Sci (Paris) 2019 Nov 20;35 Hors série n° 2:55-59. Epub 2019 Dec 20.

Aix Marseille Univ, Inserm, MMG, Marseille Medical Genetics, Marseille, France - Centre de référence pour les maladies neuromusculaires et la SLA, Hôpital de la Timone, Marseille, France - Filnemus, Filière Neuromusculaire,.

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http://dx.doi.org/10.1051/medsci/2019184DOI Listing
November 2019

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

Circ Genom Precis Med 2019 05;12(5):e002500

Département de génétique médicale, APHM, Hôpital d'enfants de la Timone, Marseille, France. Aix Marseille University, INSERM, Marseille Medical Genetics, Faculté de Médecine, France (K.N., S.R., D.S., J.-P.D., M.C., F.M., C.B., N.L.).

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http://dx.doi.org/10.1161/CIRCGEN.119.002500DOI Listing
May 2019

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Neurology 2018 06 11;90(23):e2059-e2067. Epub 2018 May 11.

From The Dalglish Family 22q Clinic for Adults and Department of Psychiatry (E.B., A.M.F., A.S.B.), Toronto General Research Institute (A.S.B.), and Division of Cardiology, Department of Medicine (A.S.B.), University Health Network, Toronto, Canada; De Hartekamp Groep (E.B.), Centre for People with Intellectual Disability, Haarlem; Department of Nuclear Medicine (E.B., J.B.), Academic Medical Center, Amsterdam, the Netherlands; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute (N.J.B., A.M.F., A.S.B.), Centre for Addiction and Mental Health, Toronto; Institute of Medical Science (N.J.B., M.M., A.E.L., A.S.B.), Division of Neurology, Department of Medicine (C.M., M.M., A.E.L.), and Department of Psychiatry (A.S.B.), University of Toronto; Deer Lodge Movement Disorders Centre (S.U.); Section of Neurology (S.U.), Division of Internal Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg; Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease Research (C.M., A.E.L.), Toronto Western Hospital and University of Toronto, Canada; Department of Molecular Neuroscience (K.Y.M., N.W.W.), UCL Institute of Neurology, London, UK; Department of Neurology (S.K.), Kansai Medical University, Osaka, Japan; Department of Neurology (M.J.B.), University of Virginia School of Medicine, Charlottesville; Medical Genetics Unit (P.P.), Perugia University Hospital, Italy; Department of Neurology (B.D.B.), University of Colorado Anschutz Medical Campus, Aurora; Neurology Section (B.D.B.), VA Eastern Colorado Health Care System, Denver; Cognitive & Movement Disorders Clinic and Hurvitz Brain Sciences Research Program (M.M.), Sunnybrook Health Sciences Centre, Toronto, Canada; Departments of Clinical Neurosciences (Movement Disorders) (B.D.) and Genetics (Neurogenetics) (K.N.), Timone University Hospital (AP-HM), Provence-Alpes-Côte d'Azur; Aix-Marseille University (B.D., K.N.), Marseille; Department of Genetics (Neurogenetics) (P.C., A.J.), Pitié-Salpêtrière University Hospital; Sorbonne University (P.C., A.J.), Paris; Department of Neurosciences (Movement Disorders) (E.M.), Lille University Hospital; Lille University (E.M.); Department of Neurology (Movement Disorders) (T.D.), Pierre Wertheimer University Hospital, Lyon; Marc Jeannerod Center for Cognitive Neurosciences (T.D.), Lyon-1 University; Department of Neurology (Movement Disorders) and Clinical Investigation Center (Clinical and Experimental Neurosciences) (O.C.), Poitiers University Hospital; Department of Neurology (Movement Disorders) (S.D.), Rennes University Hospital; Rennes-1 University (S.D.); Department of Clinical Neurosciences (Movement Disorders) (M.B.), Nice University Hospital, France; Department of Psychiatry (A.M.F.), Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, the Netherlands; Center for Human Genetics (E.V., A.S., A.V.), University Hospital Leuven; Department of Human Genetics (A.S.), KU Leuven, Belgium; Department of Neurology (A.P.), University of Munich, Germany; Scientific and Technological Coordination Unit of the ANLIS Directorate (C.P.), National Administration of Laboratories and Institutes of Health, Argentina; Department of Neurodegenerative Diseases (T.G.), Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (T.G.); Department of Neurology (K.C.), AZ Turnhout, Antwerp, Belgium; Neurology Unit and Stroke Center (F.B.), Hôpital Foch, Suresnes, France; Movement Disorder Division (K.M.), Johns Hopkins University, Baltimore, MD; and Psychological Medicine and Clinical Neurosciences (N.M.W.), MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff University, UK.

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http://dx.doi.org/10.1212/WNL.0000000000005660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993183PMC
June 2018

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

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.

Neurology 2014 Aug 16;83(8):733-42. Epub 2014 Jul 16.

From Aix Marseille Universite (M.-C.G., S.R., C.D., A.T., G.B., E.S.-C., N.B., J.M., F.P., M.B., N.L., R.B., S.A., K.N., F.M.), INSERM GMGF UMR S_910, Marseille; and APHM, Centre de Référence des Maladies Neuromusculaires et de la SLA (E.S.-C., S.A.), and APHM, Laboratoire de Génétique Médicale (C.V., C.C., N.L., R.B., K.N.), Hôpital de la Timone, Marseille, France.

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http://dx.doi.org/10.1212/WNL.0000000000000708DOI Listing
August 2014

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.

Ann Neurol 2011 Oct;70(4):627-33

Assistance Publique-Hôpitaux de Marseille, Department of Medical Genetics, Timone Children's Hospital, Marseille, France.

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http://dx.doi.org/10.1002/ana.22513DOI Listing
October 2011

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

Sci Transl Med 2010 Sep;2(50):50ra69

Inserm UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine de Marseille, Université de la Méditerranée, 13005 Marseille, France.

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http://dx.doi.org/10.1126/scitranslmed.3000951DOI Listing
September 2010

Hypokalaemia and dysmorphia, is there a link?

NDT Plus 2009 Jun 4;2(3):222-4. Epub 2009 Feb 4.

Centre de Néphrologie et Transplantation Rénale, AP-HM , Université de la Méditerranée , Marseille.

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https://academic.oup.com/ckj/article-lookup/doi/10.1093/ndtp
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http://dx.doi.org/10.1093/ndtplus/sfp009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421201PMC
June 2009

Dysferlinopathies.

Neurol India 2008 Jul-Sep;56(3):289-97

Assistance Publique Hopitaux de Paris, Hopital Marin, BP40139, 64700 Hendaye, France.

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http://dx.doi.org/10.4103/0028-3886.43447DOI Listing
June 2009

MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia.

Am J Med Genet A 2003 Aug;121A(2):109-12

Département de Génétique Médicale, Hôpital D'enfants de la Timone, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.20186DOI Listing
August 2003

A locus for bilateral perisylvian polymicrogyria maps to Xq28.

Am J Hum Genet 2002 Apr 29;70(4):1003-8. Epub 2002 Jan 29.

INSERM U491, Faculté de Médecine de La Timone, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France.

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http://dx.doi.org/10.1086/339433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379093PMC
April 2002