Publications by authors named "Marie Anne Barthez"

24Publications

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:

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

Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.

Neurology 2020 03 2;94(13):e1378-e1385. Epub 2020 Mar 2.

From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence "Déficiences Intellectuelles de Causes Rares" (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France.

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http://dx.doi.org/10.1212/WNL.0000000000009175DOI Listing
March 2020

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Neurol Genet 2019 Dec 25;5(6):e363. Epub 2019 Oct 25.

Service de Génétique (G.B., J.-P.B., S.G.-L.), Groupe Hospitalier Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1163 (G.B., N.B-.B., R.N.), Université Paris Descartes, PRES Sorbonne Paris Cité, Paris, France; Service de Neurologie Pédiatrique (N.C., N.B-.B., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Centre de Référence des Epilepsies Rares (N.C., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1129 (N.N., A.K., R.N.), Paris, France; Service de Neurophysiologie Clinique et Pédiatrie (M.K.), INSERM U1099, Hôpital Universitaire de Rennes, Université de Rennes, France; Service de Neurophysiologie Clinique (M.E., A.K.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Génétique Clinique (V.C.), Hôpital Femme Mère Enfant, Metz-Thionville, France; Pediatric Neurology Research Group (A.M.), Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Service de Génétique Clinique (L.L.), Hôpital d'Enfants, CHU de Nancy, Vandoeuvre-Lès-Nancy, France; Service de Pédiatrie (F.D.), CHU de Grenoble, France; Service de Neurologie Pédiatrique (D.D., T.B.V.), Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Neurologie Pédiatrique (N.V., M.M.), APHM, Hôpital d'Enfants de La Timone, Marseille, France; Service de Neurologie Pédiatrique (M-.A.B., M.M.), Centre Hospitalier Universitaire de Tours, Tours, France; Département de Génétique (C.N., M.M.), Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Radiologie Pédiatrique (N.B., M.M.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Université Aix-Marseille (M.M.), INSERM, MMG, UMR-S 1251, Faculté de Médecine, Marseille, France; and Unité de Neurologie Pédiatrique (S.A.), Hôpital Rober Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878841PMC
December 2019

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.

Pediatr Blood Cancer 2014 Jun 30;61(6):1041-8. Epub 2014 Jan 30.

Service d'Hémato-Oncologie Pédiatrique, APHP Hopital Trousseau, Paris, France; Service de pédiatrie, CHU de Reims, Reims, France.

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http://doi.wiley.com/10.1002/pbc.24964
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http://dx.doi.org/10.1002/pbc.24964DOI Listing
June 2014

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

Topography of syllable change-detection electrophysiological indices in children and adults with reading disabilities.

Neuropsychologia 2009 Feb 14;47(3):761-70. Epub 2008 Dec 14.

UMRS 'Imagerie et Cerveau', Inserm U930, CNRS FRE 2448, Université François Rabelais de Tours, CHRU, Tours, France.

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http://dx.doi.org/10.1016/j.neuropsychologia.2008.12.010DOI Listing
February 2009

Language in benign childhood epilepsy with centro-temporal spikes abbreviated form: rolandic epilepsy and language.

Brain Lang 2005 Mar;92(3):300-8

Laboratoire Langage and Handicap (JE 2321), Université François-Rabelais, Tours, France.

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http://dx.doi.org/10.1016/j.bandl.2004.07.001DOI Listing
March 2005

Outcome at adulthood of the continuous spike-waves during slow sleep and Landau-Kleffner syndromes.

Epilepsia 2003 Nov;44(11):1434-40

Neurology Department, University Hospital, Tours Neuropediatric Department, Bicetre Hospital, Le Kremlin Bicetre, France.

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http://dx.doi.org/10.1046/j.1528-1157.2003.08403.xDOI Listing
November 2003