Publications by authors named "Aurelie Méneret"

41Publications

Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations.

Parkinsonism Relat Disord 2020 Sep 15;80:73-81. Epub 2020 Sep 15.

Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de Référence des Démences Rares ou Précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Paris Brain Institute - Institut du Cerveau - ICM, FrontLab, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.09.019DOI Listing
September 2020

Increased diagnostic yield in complex dystonia through exome sequencing.

Parkinsonism Relat Disord 2020 05 20;74:50-56. Epub 2020 Apr 20.

Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1016/j.parkreldis.2020.04.003DOI Listing
May 2020

Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome.

J Neurol Neurosurg Psychiatry 2020 04 6;91(4):444-445. Epub 2019 Nov 6.

Faculté de Médecine de Sorbonne Université, UMR S 1127, Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, Paris, France

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http://dx.doi.org/10.1136/jnnp-2019-321694DOI Listing
April 2020

Renal Pathological Findings in Action Myoclonus-Renal Failure Syndrome.

Nephron 2020 12;144(2):55-58. Epub 2019 Sep 12.

Nephrology Department, Pitié-Salpêtrière University Hospital and Sorbonne University, Paris, France.

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http://dx.doi.org/10.1159/000503067DOI Listing
September 2019

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.

Tremor Other Hyperkinet Mov (N Y) 2019 17;9. Epub 2019 Jul 17.

Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR.

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http://dx.doi.org/10.7916/tohm.v0.641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692767PMC
January 2020

Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene.

Ann Intern Med 2019 09 11;171(6):439. Epub 2019 Jun 11.

Assistance Publique - Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Inserm U 1127, CNRS UMR 7225, Sorbonne University, UPMC Univ Paris 06 UMR S 1127, Paris, France (A.M., E.M., E.R.).

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http://dx.doi.org/10.7326/L19-0038DOI Listing
September 2019

GLUT1 Deficiency in a Patient Diagnosed as Cerebral Palsy: Is NGS a Valuable Tool to Be Considered in All Cases of CP to Detect Underlying Genetic Disorders?

Mov Disord Clin Pract 2019 Apr 28;6(4):277-279. Epub 2019 Mar 28.

Department of Neurology Pitié-Salpêtrière Hospital, APHP Paris France.

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http://dx.doi.org/10.1002/mdc3.12754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476600PMC
April 2019

Systematic review of movement disorders and oculomotor abnormalities in Whipple's disease.

Mov Disord 2018 11 19;33(11):1700-1711. Epub 2018 Oct 19.

Movement Disorders Research Center, Toront Western Hospital, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mds.27419DOI Listing
November 2018

First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation.

Cortex 2019 08 1;117:407-413. Epub 2018 Sep 1.

Department of Neurology, Pitié-Salpêtrière Hospital, APHP, Paris, France; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, CIC-1422, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S00109452183026
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http://dx.doi.org/10.1016/j.cortex.2018.08.014DOI Listing
August 2019

Miming neurological syndromes improves medical student's long-term retention and delayed recall of neurology.

J Neurol Sci 2018 08 7;391:143-148. Epub 2018 Jun 7.

Faculty of Medicine of Sorbonne University, University Pierre-et-Marie-Curie (UPMC), 91, boulevard de l'Hôpital, 75013 Paris, France; Department of Internal Medicine, Hôpital Tenon, AP-HP, 4, rue de la Chine, 75020 Paris, France.

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http://dx.doi.org/10.1016/j.jns.2018.06.003DOI Listing
August 2018

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2018 18;8:554. Epub 2018 Apr 18.

Sorbonne Universités, UPMC-Paris 6, UMR S 1127, ICM, Paris, France.

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http://dx.doi.org/10.7916/D8VM5VBQDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910540PMC
November 2018

ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.

Mov Disord 2017 02 9;32(2):305-306. Epub 2016 Dec 9.

Geriatric Research, Education and Clinical Center Department of Veteran Affairs, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/mds.26888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5318268PMC
February 2017

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature.

Tremor Other Hyperkinet Mov (N Y) 2016 3;6:424. Epub 2016 Nov 3.

Sorbonne Universités, UPMC Univ Paris 06, INSERM U1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, Paris, France; Département de Neurologie, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.7916/D8BK1CNFDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099496PMC
November 2016

A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia.

Neurology 2016 May 6;86(18):1729-35. Epub 2016 Apr 6.

From Université de la Sorbonne UPMC Paris 06 UMR S 1127 (E.H., M.V., V.B., C.H., D.G., A. Méneret, S. Dupont, E.A., J.-C.C., E.R.), Inserm U 1127, CIC-1422, CNRS UMR 7225, Institut du Cerveau et de la Moëlle, Paris; Département des Maladies du Système Nerveux (E.H., M.V., C.H., B.D., C.B., D.G., J.-C.C., E.R.), Département de Biostatistiques, Unité de Recherche Clinique (N.C., A.B., A. Mallet), Pharmacie (F.C.-B.), Département de Pharmacologie (N.Z.), Département de Génétique, UF de Neurogénétique Moléculaire et Cellulaire (F.C.), and Département d'Epilepsie et de Réhabilitation (S. Dupont), Hôpital Pitié-Salpêtrière, AP-HP; Unité de Neurophysiologie (E.H., E.A.), Département DéPAS, Hôpital Saint-Antoine, AP-HP, Paris; Hospices Civils de Lyon (S.T.), Hôpital Neurologique Pierre Wertheimer; Université Lyon 1 (S.T.); CNRS (S.T.), Centre de Neurosciences Cognitives, UMR 5229, Bron; Département de Neurologie (C.T.), Hôpital de Hautepierre, CHU Strasbourg; Fédération de Médecine translationnelle de Strasbourg (FMTS) (C.T.), Strasbourg, France; Département de Neurologie (G.G.), Hôpital Brugmann, Bruxelles, Belgium; Département de Neurologie (S.Drapier), Hôpital Pontchaillou, CHU Rennes; EA-4712 "Comportement et Noyaux Gris Centraux" (S. Drapier), Université de Rennes 1; Département de Neurologie et Pathologies du Movement (E.M.) and Département de Neurologie (T.L.), CHU de Lille; INSERM UMR-S 1172 (E.M.), Lille; Département de Neurologie (A.D.D.M.), Hôpital Maison Blanche, CHU de Reims; Centre Memoire de Ressources et de Recherche (CMRR) (T.L.), Lille; ESPCI Paris Tech (A.-P.L.), PSL Research University; and Département de Neurologie et Pathologie du Movement (J.-P.A.), Pôle Neurosciences Cliniques, INT-CNRS/AMU Aix-Marseille, France.

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http://dx.doi.org/10.1212/WNL.0000000000002631DOI Listing
May 2016

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

Mov Disord 2016 Jan 21;31(1):147-8. Epub 2015 Dec 21.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, F-75013, Paris, France.

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http://dx.doi.org/10.1002/mds.26494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724296PMC
January 2016

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Neurology 2015 Dec 4;85(23):2026-35. Epub 2015 Nov 4.

From the Departments of Neurology (D.-H.C., E.S.B., M.Y.D., P.D.S., M.W., T.D.B.), Psychiatry and Behavioral Sciences (O.K., W.H.R.), Genome Sciences (H.A.S., E.E.E.), Medicine (F.M.H., L.M.A., W.H.R.), and Pathology (M.O.D.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle; Inserm (A.M., D. Grabli, M.V., O.T., E.R.), U 1127; CNRS (A.M., D. Grabli, M.V., O.T., E.R.), UMR 7225; Sorbonne Université (A.M., D. Grabli, M.V., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle Épinière (A.M., D. Grabli, M.V., O.T., E.R.), ICM; Départements de Neurologie (A.M., B.D., D. Grabli, M.V., O.T., E.R.) et de Génétique (C.M.), Hôpital de la Pitié Salpêtrière, AP-HP, Paris, France; the Departments of Neurosciences and Pediatrics (J.R.F.), University of California, San Diego; Rady Childrens Hospital (J.R.F.), San Diego, CA; Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Israel; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP; Centre de Référence Mouvements Anormaux de l'Enfant à l'Adulte (D.D.); Centre des Déficiences Intellectuelles de Causes Rares (C.M.), Paris; Département de Neurologie (M.A., C.T.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., C.T.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., C.T.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Phoenix Children's Hospital (S.B.), AZ; CHU de Bordeaux (N.D.-P.), Explorations Fonctionnelles du Système Nerveux; Service de Neuropédiatrie (D. Gras), Hôpital Robert Debré, AP-HP, Paris, France; Department of Child Neurology (K.M.M.), Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA; Johns Hopkins All Children's Hospital (S.W.), St. Petersburg, FL; The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute, S

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http://dx.doi.org/10.1212/WNL.0000000000002058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676753PMC
December 2015

Congenital mirror movements caused by a mutation in the DCC gene.

Dev Med Child Neurol 2015 Aug 22;57(8):776. Epub 2015 May 22.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), Paris, France.

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http://dx.doi.org/10.1111/dmcn.12810DOI Listing
August 2015

Congenital mirror movements: from piano player to opera singer.

Neurology 2015 Feb;84(8):860

From Inserm (A.M., Q.W., O.T., E.R.), U 1127; CNRS (A.M., Q.W., O.T., E.R.), UMR 7225; Sorbonne Universités (A.M., Q.W., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle épinière (A.M., Q.W., O.T., E.R.), ICM; AP-HP (A.M., E.R.), Département de Neurologie, Hôpital de la Pitié Salpêtrière; and Neuroscience Paris Seine (Q.W.), CNRS UMR8246, Inserm U1130, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000001290DOI Listing
February 2015

Congenital mirror movements: no mutation in DNAL4 in 17 index cases.

J Neurol 2014 Oct 19;261(10):2030-1. Epub 2014 Sep 19.

Inserm, U 1127, 75013, Paris, France,

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http://dx.doi.org/10.1007/s00415-014-7505-6DOI Listing
October 2014

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.

Neurology 2014 Sep 13;83(12):1087-95. Epub 2014 Aug 13.

From INSERM, UMRS 975, CNRS 7225-CRICM (A.M., E.A., S.R.-P., A.D., M.V., D.G.), AP-HP, Fédération de Neurophysiologie Clinique (B.G., T.M.), AP-HP, Département des Maladies du Système Nerveux (B.D., M.V., D.G.), Département de Génétique et Cytogénétique, Unité Fonctionnelle de Génétique Chromosomique (B.B.), and Département de Génétique et Cytogénétique (A.D., M.A.), Hôpital Pitié-Salpêtrière, Paris; Université Pierre et Marie Curie-Paris-6 (A.M., B.G., E.A., S.R.-P., B.D., A.D., M.V., D.G.); AP-HP, Service de Physiologie (Y.A.-B., E.A.), Hôpital Saint-Antoine; INSERM U830 (G.R., M.-H.S., D.S.-L.), Paris; Unité d'Immuno-Hématologie et Rhumatologie Pédiatriques (N.M., A.F.), CEREDIH (French Reference Center for Primary Immunodeficiencies) (N.M., F.S., A.F.), and Service d'Hématologie Adultes (F.S.), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP); Imagine Institute (N.M., F.S., A.F.), Sorbonne Paris Cité (D.S.-L.), Université Paris Descartes; Département de Neurologie (C.T., M.A.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (C.T., M.A.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (C.T., M.K., M.A.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (M.K.), Nouvel Hôpital Civil, Strasbourg; Laboratoire de Génétique des Maladies Rares (M.K.), INSERM UMR_S 827, Institut Universitaire de Recherche Clinique, Montpellier; and Department of Tumour Biology (M.-H.S., C.D.E., D.S.-L.), Institut Curie, Paris, France.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000079
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http://dx.doi.org/10.1212/WNL.0000000000000794DOI Listing
September 2014

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

Neurology 2014 Jun 7;82(22):1999-2002. Epub 2014 May 7.

From INSERM, U 975, and CNRS 7225-CRICM (A.M., C.D., O.T., D.B., I.L., M.V., A.B., E.R.), Département de Neurologie (A.M., M.V., E.R.), Fédération de Génétique, Département de Génétique et de Cytogénétique (C.D., A.B.), Banque d'ADN et de cellules (I.L.), Department of Biostatistics (J.-L.G.), and Centre d'Investigation Clinique Pitié Neurosciences 1422 (E.R.), Hôpital Pitié-Salpêtrière, AP-HP, Paris; Université Pierre et Marie Curie-Paris-6 (A.M., C.D., M.V., A.B., E.R.), UMR_S 975, Paris; Laboratoire de Génétique (F.R.), Groupe hospitalier Lariboisière-Fernand Widal, AP-HP, Paris; INSERM UMR_S740 (F.R.), Université Paris 7 Denis Diderot, Paris, France; Unit of Neurology (M.C., A.B.), Florence Health Authority, Italy; Génétique Médicale (P.B.), CHU Paris Nord, Hôpital Jean Verdier, Bondy, France; Department of Human Genetics (J.W.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Institute of Neurogenetics (A.W.), University of Lübeck, Germany; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP, Paris, France; Unit of Neurology (M.R.), Villa Sofia-Cervello Hospital, Palermo; Department of Neuroscience (S.R.), Section of Neurology and Clinical Neurophysiology, Azienda Ospedaliera Universitaria of Siena, Italy; Neurologie et Pathologie du Mouvement (L.D.), Neurologie A, Hopital Salengro, Centre Hospitalier Universitaire, EA 1046, Lille, France; Pediatric Neurology and Metabolism (L.D.M.), Universitair Ziekenhuis Brussel, Belgium; James J. and Joan A. Gardner Family Center for Parkinson's disease and Movement Disorders (A.J.E.), University of Cincinnati Academic Health Center, Cincinnati, OH; IRCCS Fondazione Stella Maris (S.F.), Calambrone, Pisa, Italy; Department of Neurology (S.K.), University Hospital Würzburg, Germany; Service de Génétique Clinique (C.Q.), Hôpital Sud, Rennes, France; Institute for Human Genetics (S.R.-S.), Uniklinik RWTH Aachen, Germany; Service de Génétique (G.P.), CHU Clémenceau, Caen, F

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http://dx.doi.org/10.1212/WNL.0000000000000477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105259PMC
June 2014

The multiple faces of the ATP1A3-related dystonic movement disorder.

Mov Disord 2013 Sep 8;28(10):1457-9. Epub 2013 Mar 8.

AP-HP, Service de Neuropédiatrie, Hôpital Armand Trousseau Paris, France.

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http://dx.doi.org/10.1002/mds.25396DOI Listing
September 2013

Chvostek sign, frequently found in healthy subjects, is not a useful clinical sign.

Neurology 2013 Mar;80(11):1067

Département de Neurologie, Hôpital de la Salpêtrière, Paris.

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http://dx.doi.org/10.1212/WNL.0b013e31828728bcDOI Listing
March 2013

PRRT2 mutations cause hemiplegic migraine.

Neurology 2012 Nov 17;79(21):2122-4. Epub 2012 Oct 17.

Groupe Hospitalier Lariboisière-Fernand Widal, Laboratoire de Génétique, Paris.

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http://dx.doi.org/10.1212/WNL.0b013e3182752cb8DOI Listing
November 2012

A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.

Arch Neurol 2012 Jul;69(7):908-11

Department of Neurology, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, France.

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http://dx.doi.org/10.1001/archneurol.2011.1526DOI Listing
July 2012

Congenital mirror movements: a clue to understanding bimanual motor control.

J Neurol 2011 Nov 3;258(11):1911-9. Epub 2011 Jun 3.

CENIR, Institut du Cerveau et de la Moelle Epiniere, Paris, France.

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http://dx.doi.org/10.1007/s00415-011-6107-9DOI Listing
November 2011

[Early complications after insertion of pacemaker].

Presse Med 2009 Jun 25;38(6):1030-1. Epub 2008 Dec 25.

Service de médecine interne, CHU Tenon (AP-HP), F-75020 Paris, France.

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http://dx.doi.org/10.1016/j.lpm.2008.08.012DOI Listing
June 2009